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 AURKAIP1 54998 genome.wustl.edu 37 1 1309524 1309524 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001127229.1 -1 validated p.G118 0.000 112 0% 41 17.1% 234 25.2% - - - NULL GNB1 2782 genome.wustl.edu 37 1 1720561 1720561 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002074.2 -1 reviewed p.R283C 1.000 54 0% 25 28% 643 42.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 KIAA1751 85452 genome.wustl.edu 37 1 1888088 1888088 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080484.1 -1 predicted p.M663V 0.000 42 0% 21 28.6% 0 - benign(0.002) tolerated(0.35) neutral(0.021) NULL KIAA1751 85452 genome.wustl.edu 37 1 1897819 1897819 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080484.1 -1 predicted p.K464N 0.262 62 0% 35 28.6% 0 - possibly_damaging(0.942) tolerated(0.47) neutral(0.398) NULL RER1 11079 genome.wustl.edu 37 1 2333698 2333698 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007033.4 +1 reviewed p.A140T 1.000 59 0% 26 30.8% 210 46.1% benign(0.046) deleterious(0.05) neutral(0.348) HMMPfam_Rer1 PRDM16 63976 genome.wustl.edu 37 1 3342243 3342243 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022114.3 +1 reviewed p.C1012Y 1.000 58 0% 30 33.3% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CCDC27 148870 genome.wustl.edu 37 1 3673373 3673373 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152492.2 +1 validated p.S210 0.343 93 0% 28 17.9% 0 - - - - NULL LRRC47 57470 genome.wustl.edu 37 1 3699292 3699292 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020710.2 -1 validated p.P449L 1.000 131 0% 51 29.4% 81 41.9% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_B3_4 CEP104 9731 genome.wustl.edu 37 1 3755645 3755645 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014704.3 -1 validated p.R258 0.993 197 0% 78 26.9% 25 36% - - - NULL DFFB 1677 genome.wustl.edu 37 1 3789035 3789035 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004402.2 +1 reviewed e6-1 1.000 88 0% 42 21.4% 0 - - - - - CHD5 26038 genome.wustl.edu 37 1 6170461 6170461 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015557.1 -1 provisional p.R1792M 1.000 52 0% 22 18.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CHDCT2 ACOT7 11332 genome.wustl.edu 37 1 6354989 6354989 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181864.2 -1 reviewed p.H265R 1.000 34 0% 22 31.8% 42 54.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_4HBT,superfamily_Thioesterase/thiol ester dehydrase-isomerase ESPN 83715 genome.wustl.edu 37 1 6504642 6504642 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031475.2 +1 reviewed p.Q364H 0.546 158 0% 65 29.2% 6 33.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Ankyrin repeat PHF13 148479 genome.wustl.edu 37 1 6679865 6679865 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153812.2 +1 validated p.E48D 0.479 52 0% 28 32.1% 12 33.3% probably_damaging(0.985) tolerated(0.27) neutral(0.466) NULL PHF13 148479 genome.wustl.edu 37 1 6680027 6680027 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153812.2 +1 validated p.K102N 1.000 57 0% 30 33.3% 11 9% probably_damaging(0.972) tolerated(0.39) neutral(0.430) NULL CAMTA1 23261 genome.wustl.edu 37 1 7737665 7737665 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015215.1 +1 validated p.D929A 1.000 129 0% 50 30% 0 - probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_TIG,superfamily_E set domains CAMTA1 23261 genome.wustl.edu 37 1 7804937 7804937 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015215.1 +1 validated p.P1409S 1.000 278 0.4% 121 27.3% 1 0% benign(0.308) tolerated(0.14) neutral(0.346) NULL PER3 8863 genome.wustl.edu 37 1 7845627 7845627 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016831.1 +1 reviewed p.R85 0.766 65 0% 44 56.8% 2 100% - - - NULL RERE 473 genome.wustl.edu 37 1 8421438 8421438 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001042681.1 -1 reviewed p.S710N 1.000 69 0% 31 16.1% 39 30.7% unknown(0) deleterious(0.01) - HMMPfam_Atrophin-1 ENO1 2023 genome.wustl.edu 37 1 8926457 8926457 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001428.2 -1 reviewed p.R183H 1.000 200 0% 72 29.2% 1272 43.6% benign(0.127) tolerated(0.07) neutral(0.330) HMMPfam_Enolase_C,superfamily_Enolase C-terminal domain-like ENO1 2023 genome.wustl.edu 37 1 8927297 8927297 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001428.2 -1 reviewed p.A108V 1.000 121 0% 78 32.1% 1223 43.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Enolase_N,superfamily_Enolase N-terminal domain-like SLC2A7 155184 genome.wustl.edu 37 1 9078420 9078420 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207420.2 -1 provisional p.A151T 1.000 38 0% 22 31.8% 0 - benign(0) tolerated(0.08) neutral(0.300) HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2,superfamily_MFS_gen_substrate_transporter C1orf200 644997 genome.wustl.edu 37 1 9713940 9713940 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000377320 -1 known p.V134A 0.176 137 0% 69 20.3% 0 - benign(0.053) - - NULL C1orf200 644997 genome.wustl.edu 37 1 9714612 9714612 + RNA SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NR_027045.1 -1 validated NULL 0.034 24 0% 13 38.5% 0 - - - - - CLSTN1 22883 genome.wustl.edu 37 1 9790629 9790629 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001009566.1 -1 validated p.G961 0.063 32 0% 23 30.4% 224 41.5% - - - NULL CLSTN1 22883 genome.wustl.edu 37 1 9791921 9791921 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001009566.1 -1 validated p.H821Y 1.000 61 0% 30 36.7% 207 33.3% possibly_damaging(0.561) deleterious(0.04) deleterious(0.540) NULL NMNAT1 64802 genome.wustl.edu 37 1 10042464 10042464 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022787.3 +1 provisional p.G182E 1.000 291 0% 162 31.5% 18 22.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CTP_transf_2,superfamily_Nucleotidylyl transferase UBE4B 10277 genome.wustl.edu 37 1 10240005 10240005 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001105562.1 +1 reviewed p.S1300 0.882 251 0.4% 126 11.9% 74 21.6% - - - HMMPfam_U-box,superfamily_RING/U-box KIF1B 23095 genome.wustl.edu 37 1 10384910 10384910 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015074.3 +1 reviewed p.D832N 1.000 222 0% 135 33.3% 4 25% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL KIF1B 23095 genome.wustl.edu 37 1 10405975 10405975 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015074.3 +1 reviewed p.V1208A 1.000 161 0.6% 104 39.4% 5 20% benign(0) tolerated(0.29) neutral(0.029) NULL PGD 5226 genome.wustl.edu 37 1 10479762 10479762 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002631.2 +1 reviewed p.T470A 1.000 260 0% 123 17.9% 561 40.9% probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_6PGD,superfamily_6-phosphogluconate dehydrogenase C-terminal domain-like MTOR 2475 genome.wustl.edu 37 1 11294212 11294212 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004958.3 -1 reviewed p.E773D 1.000 162 0.6% 81 14.8% 12 25% possibly_damaging(0.475) tolerated(0.64) neutral(0.160) superfamily_ARM-type_fold PTCHD2 57540 genome.wustl.edu 37 1 11577529 11577529 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020780.1 +1 validated p.V587I 1.000 122 0% 49 18.4% 0 - possibly_damaging(0.93) tolerated(0.33) neutral(0.401) HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain CLCN6 1185 genome.wustl.edu 37 1 11894612 11894612 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001286.2 +1 reviewed p.P586 0.003 122 0% 77 22.1% 1 100% - - - superfamily_Clc chloride channel CLCN6 1185 genome.wustl.edu 37 1 11898614 11898614 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001286.2 +1 reviewed p.P809H 0.997 147 0% 59 32.2% 4 50% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_CBS,superfamily_CBS-domain KIAA2013 90231 genome.wustl.edu 37 1 11982886 11982886 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138346.1 -1 provisional p.Q565R 1.000 28 0% 21 23.8% 154 38.3% possibly_damaging(0.806) deleterious(0.02) deleterious(0.686) HMMPfam_DUF2152 TNFRSF1B 7133 genome.wustl.edu 37 1 12252505 12252505 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001066.2 +1 reviewed p.V159M 0.140 101 0% 69 29% 11 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00208,superfamily_TNF receptor-like VPS13D 55187 genome.wustl.edu 37 1 12336826 12336826 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015378.2 +1 reviewed p.R1061* 0.008 413 0.2% 291 28.5% 3 0% - - - NULL VPS13D 55187 genome.wustl.edu 37 1 12408930 12408930 + Silent SNP C C G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000011700 +1 known p.A1862G 1.000 203 0% 117 28.2% 7 100% - - - NULL VPS13D 55187 genome.wustl.edu 37 1 12416580 12416580 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015378.2 +1 reviewed p.L3333I 1.000 199 0% 114 25.4% 6 33.3% benign(0.018) tolerated(0.47) neutral(0.011) HMMPfam_DUF1162 VPS13D 55187 genome.wustl.edu 37 1 12460263 12460263 + Missense_Mutation SNP C C T rs183460656 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015378.2 +1 reviewed p.T3887M 1.000 220 0% 115 25.2% 16 56.2% possibly_damaging(0.829) tolerated(0.06) deleterious(0.637) NULL AADACL3 126767 genome.wustl.edu 37 1 12785534 12785534 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001103170.1 +1 validated p.E208D 0.000 758 0% 417 30.7% 0 - benign(0) tolerated(1) - HMMPfam_Abhydrolase_3,superfamily_alpha/beta-Hydrolases PRAMEF12 390999 genome.wustl.edu 37 1 12835291 12835291 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080830.1 +1 provisional p.R94H 0.127 154 0% 60 25% 0 - benign(0.06) tolerated(0.85) neutral(0.005) superfamily_SSF52047 PRAMEF12 390999 genome.wustl.edu 37 1 12836154 12836154 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080830.1 +1 provisional p.E252D 0.000 626 0.2% 349 28.1% 1 100% benign(0.003) tolerated(0.55) neutral(0.007) superfamily_SSF52047 PRAMEF1 65121 genome.wustl.edu 37 1 12853423 12853423 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_023013.1 +1 provisional p.S16I 0.002 508 0% 284 25% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SSF52047 PRAMEF2 65122 genome.wustl.edu 37 1 12919735 12919735 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_023014.1 +1 provisional p.P159S 0.000 1206 0.2% 743 27.3% 0 - benign(0.001) tolerated(0.44) neutral(0.013) superfamily_SSF52047 PRAMEF18 391003 genome.wustl.edu 37 1 13475241 13475241 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001099850.1 -1 validated p.E296D 0.002 410 0% 243 28% 0 - possibly_damaging(0.719) tolerated(0.16) neutral(0.320) superfamily_SSF52047 PRDM2 7799 genome.wustl.edu 37 1 14106680 14106680 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012231.4 +1 reviewed p.P797H 0.969 360 0% 217 29% 12 58.3% unknown(0) deleterious(0.01) - NULL PRDM2 7799 genome.wustl.edu 37 1 14108473 14108473 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012231.4 +1 reviewed p.R1395* 0.986 292 0.7% 164 25% 15 60% - - - NULL CASP9 842 genome.wustl.edu 37 1 15833485 15833485 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001229.2 -1 reviewed p.R180H 0.975 100 1% 48 18.8% 20 30% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_C14,HMMSmart_SM00115,superfamily_Caspase-like DNAJC16 23341 genome.wustl.edu 37 1 15863053 15863053 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015291.2 +1 provisional p.Q106 1.000 137 0% 66 39.4% 12 41.6% - - - superfamily_Chaperone J-domain EPHA2 1969 genome.wustl.edu 37 1 16460967 16460967 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004431.3 -1 reviewed p.R560C 1.000 33 0% 24 45.8% 5 20% probably_damaging(1) tolerated(0.09) deleterious(0.796) NULL FBXO42 54455 genome.wustl.edu 37 1 16577348 16577348 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018994.1 -1 provisional p.K657 0.996 367 0.3% 206 26.2% 15 33.3% - - - NULL MST1P9 11223 genome.wustl.edu 37 1 17083867 17083867 + RNA SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NR_002729.2 -1 validated NULL 1.000 162 0% 83 9.6% 1 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) - MFAP2 4237 genome.wustl.edu 37 1 17301785 17301785 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002403.3 -1 reviewed p.A143T 1.000 71 0% 26 15.4% 22 4.5% benign(0.264) deleterious(0.03) neutral(0.392) HMMPfam_MAGP PADI4 23569 genome.wustl.edu 37 1 17664606 17664606 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012387.2 +1 reviewed p.S161Y 0.003 157 0% 98 27.6% 0 - possibly_damaging(0.818) tolerated(0.08) deleterious(0.609) HMMPfam_PAD_M,superfamily_Peptidylarginine deiminase Pad4 middle domain RCC2 55920 genome.wustl.edu 37 1 17743025 17743025 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001136204.1 -1 validated p.P326H 1.000 111 0.9% 31 32.3% 112 48.2% possibly_damaging(0.81) tolerated(0.05) deleterious(0.650) superfamily_RCC1/BLIP-II ARHGEF10L 55160 genome.wustl.edu 37 1 17914019 17914019 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018125.3 +1 validated p.A34 1.000 138 0% 62 32.3% 2 100% - - - NULL ARHGEF10L 55160 genome.wustl.edu 37 1 17958877 17958877 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018125.3 +1 validated p.G549D 0.997 227 0% 91 29.7% 9 33.3% benign(0.047) tolerated(0.38) neutral(0.021) superfamily_PH domain-like TAS1R2 80834 genome.wustl.edu 37 1 19166750 19166750 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152232.2 -1 validated p.Y621 1.000 68 0% 48 22.9% 0 - - - - HMMPfam_7tm_3 TAS1R2 80834 genome.wustl.edu 37 1 19180816 19180816 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152232.2 -1 validated p.R383H 0.145 92 0% 44 20.5% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_ANF_receptor,superfamily_SSF53822 UBR4 23352 genome.wustl.edu 37 1 19439345 19439345 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020765.2 -1 validated p.R3825H 1.000 249 0.4% 152 34.9% 29 3.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_ARM repeat UBR4 23352 genome.wustl.edu 37 1 19523679 19523679 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020765.2 -1 validated p.R325H 1.000 179 0% 119 27.7% 2 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL KIAA0090 23065 genome.wustl.edu 37 1 19545834 19545834 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015047.1 -1 predicted p.L982P 1.000 354 0% 177 19.8% 80 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF1620 AKR7L 246181 genome.wustl.edu 37 1 19597299 19597299 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000457194 -1 known p.L71P 0.097 50 0% 26 19.2% 0 - unknown(0) - - HMMPfam_Aldo_ket_red,superfamily_NAD(P)-linked oxidoreductase TMCO4 255104 genome.wustl.edu 37 1 20020932 20020932 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181719.4 -1 validated p.S499P 1.000 120 0% 65 12.3% 23 21.7% benign(0.21) tolerated(0.27) neutral(0.054) HMMPfam_DUF726 TMCO4 255104 genome.wustl.edu 37 1 20067310 20067310 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181719.4 -1 validated p.N334 1.000 51 0% 25 24% 24 33.3% - - - HMMPfam_DUF726 TMCO4 255104 genome.wustl.edu 37 1 20072051 20072051 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181719.4 -1 validated p.T284M 0.998 161 0% 64 32.8% 16 37.5% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_DUF726 PINK1 65018 genome.wustl.edu 37 1 20971111 20971111 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032409.2 +1 reviewed p.R302H 0.001 121 0% 46 17.4% 89 38.2% benign(0.162) tolerated(0.14) neutral(0.264) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase KIF17 57576 genome.wustl.edu 37 1 21031015 21031015 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020816.2 -1 validated p.L350F 0.999 50 0% 38 23.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52540 HP1BP3 50809 genome.wustl.edu 37 1 21083667 21083667 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016287.3 -1 validated p.T325A 1.000 151 0% 78 24.4% 58 20.6% benign(0.09) deleterious(0) neutral(0.451) "HMMPfam_Linker_histone,superfamily_""Winged helix"" DNA-binding domain" ALPL 249 genome.wustl.edu 37 1 21887175 21887175 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000478.4 +1 reviewed p.A40T 1.000 113 0% 66 33.3% 14 92.8% benign(0) - - superfamily_Alkaline_phosphatase_core CELA3A 10136 genome.wustl.edu 37 1 22332025 22332025 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005747.4 +1 reviewed p.G72D 1.000 114 0% 43 32.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,PatternScan_TRYPSIN_HIS CDC42 998 genome.wustl.edu 37 1 22413323 22413323 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001039802.1 +1 reviewed p.K150N 1.000 907 0% 487 30.8% 423 51.3% benign(0.345) tolerated(0.16) neutral(0.168) HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases ZBTB40 9923 genome.wustl.edu 37 1 22828921 22828921 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001083621.1 +1 validated p.G385D 0.012 405 0% 280 31.1% 5 60% benign(0.001) tolerated(0.69) neutral(0.002) NULL EPHA8 2046 genome.wustl.edu 37 1 22927298 22927298 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020526.3 +1 reviewed p.R845W 0.993 38 0% 17 23.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like C1QC 714 genome.wustl.edu 37 1 22974153 22974153 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001114101.1 +1 reviewed p.G205 0.931 234 0% 117 28.2% 366 0% - - - HMMPfam_C1q,HMMSmart_C1Q,superfamily_TNF_like C1QB 713 genome.wustl.edu 37 1 22987818 22987818 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000491.3 +1 reviewed p.G234D 0.554 571 0.2% 278 30.6% 444 0% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_C1q,HMMSmart_SM00110,superfamily_TNF-like EPHB2 2048 genome.wustl.edu 37 1 23101737 23101737 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000374625 +1 known p.E15* 0.001 127 0% 59 27.1% 0 - - - - HMMPfam_Ephrin_lbd,HMMSmart_SM00615,superfamily_Galactose-binding domain-like HNRNPR 10236 genome.wustl.edu 37 1 23637442 23637442 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001102398.1 -1 reviewed p.D472E 1.000 202 0% 118 18.6% 62 27.4% unknown(0) tolerated(0.59) - NULL ASAP3 55616 genome.wustl.edu 37 1 23769023 23769023 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017707.3 -1 reviewed p.R186W 0.997 53 0% 35 25.7% 8 12.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TCEB3 6924 genome.wustl.edu 37 1 24080872 24080872 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003198.2 +1 reviewed p.G597 0.387 245 0% 128 17.2% 36 11.1% - - - HMMPfam_Elongin_A PITHD1 57095 genome.wustl.edu 37 1 24113854 24113854 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020362.4 +1 validated p.H208 1.000 119 0% 74 36.5% 111 28.8% - - - NULL LYPLA2 11313 genome.wustl.edu 37 1 24121077 24121077 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007260.2 +1 reviewed p.S211I 1.000 137 0% 62 37.1% 129 43.4% probably_damaging(0.98) deleterious(0) deleterious(0.869) HMMPfam_Abhydrolase_2,superfamily_SSF53474 CNR2 1269 genome.wustl.edu 37 1 24201701 24201701 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001841.2 -1 reviewed p.R136H 0.975 101 0% 50 32% 0 - benign(0.011) tolerated(0.7) neutral(0.003) HMMPfam_7tm_1,superfamily_SSF81321 SRRM1 10250 genome.wustl.edu 37 1 24995849 24995849 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005839.3 +1 validated p.K659E 1.000 339 0% 228 13.2% 101 18.8% unknown(0) tolerated(0.05) - NULL RHD 6007 genome.wustl.edu 37 1 25611195 25611195 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016124.3 +1 reviewed p.L94M 0.988 160 0% 76 14.5% 1 100% possibly_damaging(0.475) tolerated(0.97) neutral(0.157) HMMPfam_Ammonium_transp,superfamily_Ammonium ransporter (Pfam 00909) SEPN1 57190 genome.wustl.edu 37 1 26136182 26136182 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000354177 +1 known p.A260V 1.000 57 0% 26 26.9% 83 36.1% possibly_damaging(0.862) tolerated(0.05) deleterious(0.678) NULL PAFAH2 5051 genome.wustl.edu 37 1 26299107 26299107 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000437.3 -1 reviewed p.P342 1.000 353 0% 198 31.3% 18 55.5% - - - HMMPfam_PAF-AH_p_II,superfamily_alpha/beta-Hydrolases PAFAH2 5051 genome.wustl.edu 37 1 26311004 26311004 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000437.3 -1 reviewed p.A119 1.000 75 1.3% 50 34% 7 14.2% - - - HMMPfam_PAF-AH_p_II,superfamily_alpha/beta-Hydrolases EXTL1 2134 genome.wustl.edu 37 1 26349435 26349435 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004455.2 +1 reviewed p.V100M 0.968 99 0% 67 16.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Exostosin EXTL1 2134 genome.wustl.edu 37 1 26355692 26355692 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004455.2 +1 reviewed p.R263H 0.043 37 0% 42 14.3% 0 - benign(0.002) tolerated(0.53) neutral(0.007) HMMPfam_Exostosin CNKSR1 10256 genome.wustl.edu 37 1 26510587 26510587 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006314.2 +1 reviewed p.P294Q 0.028 87 0% 53 24.5% 22 45.4% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_PDZ domain-like CATSPER4 378807 genome.wustl.edu 37 1 26520292 26520292 + Silent SNP G G A rs12138368 byCluster;byFrequency;by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198137.1 +1 validated p.L124 0.993 141 0% 76 30.3% 0 - - - - superfamily_Voltage-gated potassium channels UBXN11 91544 genome.wustl.edu 37 1 26609278 26609278 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_183008.2 -1 reviewed p.S385N 0.585 66 0% 26 38.5% 31 29% benign(0.002) tolerated(0.7) neutral(0.002) superfamily_Ubiquitin-like UBXN11 91544 genome.wustl.edu 37 1 26612419 26612419 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_183008.2 -1 reviewed p.G223 0.003 52 0% 25 28% 22 31.8% - - - superfamily_NSFL1 (p97 ATPase) cofactor p47 SEP domain LIN28A 79727 genome.wustl.edu 37 1 26737393 26737393 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024674.4 +1 validated p.V4A 1.000 35 0% 15 40% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL DHDDS 79947 genome.wustl.edu 37 1 26769270 26769270 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024887.2 +1 validated p.A77T 1.000 280 0% 154 24.7% 15 20% probably_damaging(0.975) tolerated(0.07) deleterious(0.736) HMMPfam_Prenyltransf,superfamily_Undecaprenyl diphosphate synthase RPS6KA1 6195 genome.wustl.edu 37 1 26898686 26898686 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001006665.1 +1 reviewed p.G626S 1.000 236 0% 120 12.5% 100 10% probably_damaging(1) tolerated(0.55) deleterious(0.507) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase ARID1A 8289 genome.wustl.edu 37 1 27105957 27105957 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006015.4 +1 reviewed p.Q1856H 1.000 284 0.4% 143 17.5% 68 20.5% probably_damaging(0.988) deleterious(0.01) deleterious(0.843) NULL ARID1A 8289 genome.wustl.edu 37 1 27107097 27107097 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006015.4 +1 reviewed p.R2236 0.542 142 0% 68 38.2% 88 60.2% - - - NULL NUDC 10726 genome.wustl.edu 37 1 27269431 27269431 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006600.2 +1 provisional p.H206Y 0.996 46 0% 23 39.1% 109 39.4% benign(0.008) tolerated(1) - superfamily_HSP20_chap,HMMPfam_CS FAM46B 115572 genome.wustl.edu 37 1 27332907 27332907 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052943.3 -1 validated p.R269H 1.000 17 0% 13 38.5% 2 0% probably_damaging(0.969) tolerated(0.09) deleterious(0.708) HMMPfam_DUF1693 WDTC1 23038 genome.wustl.edu 37 1 27627870 27627870 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015023.3 +1 validated p.K461N 1.000 115 0% 55 34.5% 29 44.8% possibly_damaging(0.836) deleterious(0.03) deleterious(0.684) superfamily_WD40 repeat-like,HMMSmart_SM00028,superfamily_TPR-like SYTL1 84958 genome.wustl.edu 37 1 27674489 27674489 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032872.1 +1 provisional p.L149I 0.001 57 0% 24 20.8% 37 16.2% possibly_damaging(0.925) tolerated(0.4) neutral(0.390) NULL GPR3 2827 genome.wustl.edu 37 1 27720316 27720316 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005281.2 +1 provisional p.A5V 0.814 185 0.5% 88 17% 0 - benign(0) deleterious(0.05) neutral(0.345) superfamily_SSF81321 GPR3 2827 genome.wustl.edu 37 1 27721053 27721053 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005281.2 +1 provisional p.V251M 0.991 77 0% 49 28.6% 1 100% possibly_damaging(0.903) deleterious(0.01) deleterious(0.764) HMMPfam_7tm_1,superfamily_SSF81321 GPR3 2827 genome.wustl.edu 37 1 27721276 27721276 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005281.2 +1 provisional p.R325H 1.000 184 0% 86 23.3% 0 - possibly_damaging(0.735) tolerated(0.1) deleterious(0.555) superfamily_SSF81321 WASF2 10163 genome.wustl.edu 37 1 27742593 27742593 + Silent SNP G G A rs187587794 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006990.2 -1 reviewed p.D141 0.962 434 0.2% 234 35% 27 51.8% - - - NULL XKR8 55113 genome.wustl.edu 37 1 28293079 28293079 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018053.2 +1 provisional p.R186C 1.000 97 0% 49 26.5% 9 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_XK-related SESN2 83667 genome.wustl.edu 37 1 28599128 28599128 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031459.3 +1 reviewed p.A192T 1.000 238 0% 110 27.3% 33 54.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PA26 GMEB1 10691 genome.wustl.edu 37 1 29040761 29040761 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006582.2 +1 reviewed p.P400T 1.000 154 0% 88 10.2% 26 38.4% possibly_damaging(0.918) tolerated(0.07) deleterious(0.688) NULL MECR 51102 genome.wustl.edu 37 1 29527028 29527028 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016011.2 -1 validated p.A277V 1.000 53 0% 25 28% 34 52.9% benign(0.151) tolerated(0.25) neutral(0.050) HMMPfam_ADH_zinc_N,superfamily_NAD(P)-binding Rossmann-fold domains PTPRU 10076 genome.wustl.edu 37 1 29602075 29602075 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005704.3 +1 reviewed p.S420 1.000 117 0% 53 32.1% 18 33.3% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PUM1 9698 genome.wustl.edu 37 1 31465333 31465333 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001020658.1 -1 reviewed p.G354 1.000 569 0% 339 24.5% 40 47.5% - - - NULL SERINC2 347735 genome.wustl.edu 37 1 31902323 31902323 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178865.3 +1 validated p.Q317H 0.996 45 0% 25 36% 973 45% benign(0.003) tolerated(0.26) neutral(0.034) HMMPfam_Serinc COL16A1 1307 genome.wustl.edu 37 1 32145243 32145243 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001856.3 -1 reviewed p.P921H 1.000 107 0% 63 38.1% 4 0% probably_damaging(1) tolerated(0.12) deleterious(0.760) HMMPfam_Collagen BAI2 576 genome.wustl.edu 37 1 32198155 32198155 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001703.2 -1 reviewed p.S1228F 1.000 26 0% 13 30.8% 2 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL BAI2 576 genome.wustl.edu 37 1 32210249 32210249 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001703.2 -1 reviewed p.G308C 1.000 55 0% 27 29.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_TSP-1 type 1 repeat SPOCD1 90853 genome.wustl.edu 37 1 32262245 32262245 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000452755 -1 known p.A138V 0.078 204 0% 106 26.4% 0 - - - - NULL SPOCD1 90853 genome.wustl.edu 37 1 32280068 32280068 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144569.4 -1 provisional p.P289 0.000 39 0% 26 19.2% 0 - - - - NULL TMEM39B 55116 genome.wustl.edu 37 1 32542820 32542820 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018056.2 +1 validated p.R164H 1.000 590 0% 281 23.8% 18 22.2% probably_damaging(0.97) deleterious(0.01) deleterious(0.818) HMMPfam_Tmp39 EIF3I 8668 genome.wustl.edu 37 1 32696725 32696725 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003757.2 +1 validated p.S302 0.902 112 0% 46 28.3% 291 33.3% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 HDAC1 3065 genome.wustl.edu 37 1 32796216 32796216 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004964.2 +1 reviewed p.A256V 1.000 353 0% 170 25.3% 148 40.5% benign(0.296) tolerated(0.06) neutral(0.414) HMMPfam_Hist_deacetyl,superfamily_Arginase/deacetylase TSSK3 81629 genome.wustl.edu 37 1 32829804 32829804 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052841.3 +1 reviewed p.L252I 0.988 459 0% 167 25.1% 4 50% benign(0.028) tolerated(0.26) neutral(0.036) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ZBTB8A 653121 genome.wustl.edu 37 1 33065775 33065775 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001040441.1 +1 validated p.R361C 1.000 102 0% 71 23.9% 23 47.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL YARS 8565 genome.wustl.edu 37 1 33245861 33245861 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003680.3 -1 reviewed p.L387M 1.000 221 0% 121 28.1% 151 47% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_tRNA_bind,superfamily_Nucleic acid-binding proteins YARS 8565 genome.wustl.edu 37 1 33251993 33251993 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003680.3 -1 reviewed p.Y292 0.997 64 0% 45 11.1% 138 25.3% - - - HMMPfam_tRNA-synt_1b,superfamily_Nucleotidylyl transferase S100PBP 64766 genome.wustl.edu 37 1 33291820 33291820 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022753.2 +1 validated p.E40D 0.974 511 0% 234 23.9% 14 35.7% benign(0.019) tolerated(0.4) neutral(0.017) NULL ADC 113451 genome.wustl.edu 37 1 33583584 33583584 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052998.2 +1 validated p.L371M 1.000 154 0% 67 34.3% 2 0% probably_damaging(0.99) tolerated(0.08) deleterious(0.742) HMMPfam_Orn_DAP_Arg_deC,superfamily_Alanine racemase C-terminal domain-like TRIM62 55223 genome.wustl.edu 37 1 33613209 33613209 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018207.2 -1 validated p.R333C 1.000 49 0% 25 28% 6 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00589 ZNF362 149076 genome.wustl.edu 37 1 33745955 33745955 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152493.2 +1 validated p.R194C 1.000 52 0% 25 32% 20 55% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF362 149076 genome.wustl.edu 37 1 33760820 33760820 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152493.2 +1 validated p.A354T 1.000 86 0% 37 16.2% 14 35.7% possibly_damaging(0.893) deleterious(0.05) deleterious(0.698) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 PHC2 1912 genome.wustl.edu 37 1 33790542 33790542 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198040.2 -1 reviewed p.L834P 1.000 45 0% 35 25.7% 91 37.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain ZSCAN20 7579 genome.wustl.edu 37 1 33956669 33956669 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145238.3 +1 validated p.G271* 1.000 235 0% 113 21.2% 0 - - - - NULL ZSCAN20 7579 genome.wustl.edu 37 1 33957215 33957215 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145238.3 +1 validated p.D453Y 0.995 212 0% 122 30.3% 0 - possibly_damaging(0.945) deleterious(0) deleterious(0.834) NULL CSMD2 114784 genome.wustl.edu 37 1 34123658 34123658 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052896.3 -1 validated p.D1405 1.000 371 0% 173 32.9% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD2 114784 genome.wustl.edu 37 1 34204904 34204904 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052896.3 -1 validated p.G695 0.042 136 0% 78 37.2% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD2 114784 genome.wustl.edu 37 1 34258060 34258060 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052896.3 -1 validated p.G465D 1.000 303 0.3% 163 30.7% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain HMGB4 127540 genome.wustl.edu 37 1 34330349 34330349 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145205.4 +1 validated p.S186N 0.000 69 0% 34 35.3% 0 - possibly_damaging(0.602) deleterious(0) deleterious(0.653) NULL GJB5 2709 genome.wustl.edu 37 1 35223654 35223654 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005268.2 +1 provisional p.D241 0.000 128 0% 60 31.7% 0 - - - - NULL GJB4 127534 genome.wustl.edu 37 1 35227083 35227083 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153212.2 +1 reviewed p.L76 1.000 99 0% 47 27.7% 0 - - - - HMMPfam_Connexin DLGAP3 58512 genome.wustl.edu 37 1 35350603 35350603 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080418.1 -1 provisional p.G659D 1.000 100 0% 43 27.9% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_GKAP ZMYM6 9204 genome.wustl.edu 37 1 35476499 35476499 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007167.3 -1 validated p.I401V 0.002 157 0.6% 82 28% 7 42.8% benign(0) tolerated(0.72) neutral(0.002) NULL ZMYM1 79830 genome.wustl.edu 37 1 35580805 35580805 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024772.3 +1 validated p.P1125H 1.000 157 0% 84 14.3% 12 16.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ZMYM4 9202 genome.wustl.edu 37 1 35871034 35871034 + Missense_Mutation SNP C C T rs147649051 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005095.2 +1 validated p.A1254V 0.000 229 0% 156 28.2% 60 41.6% benign(0.013) tolerated(0.1) neutral(0.287) NULL KIAA0319L 79932 genome.wustl.edu 37 1 35915604 35915604 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024874.4 -1 reviewed p.E739D 0.997 218 0% 126 27.8% 42 28.5% benign(0.038) tolerated(0.91) neutral(0.002) HMMSmart_SM00089,superfamily_PKD domain NCDN 23154 genome.wustl.edu 37 1 36028035 36028035 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001014839.1 +1 reviewed p.V396M 0.998 81 0% 45 22.2% 45 42.2% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_Neurochondrin PSMB2 5690 genome.wustl.edu 37 1 36101917 36101917 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002794.3 -1 reviewed p.R70* 1.000 179 0.6% 107 30.8% 207 1.9% - - - HMMPfam_Proteasome,superfamily_SSF56235 CLSPN 63967 genome.wustl.edu 37 1 36202590 36202590 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022111.2 -1 reviewed p.R1278 1.000 439 0.2% 262 32.4% 8 62.5% - - - NULL CLSPN 63967 genome.wustl.edu 37 1 36230104 36230104 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022111.2 -1 reviewed p.M115I 0.000 203 0% 122 25.4% 4 25% benign(0) tolerated(0.65) neutral(0.003) NULL EIF2C3 192669 genome.wustl.edu 37 1 36474546 36474546 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024852.2 +1 reviewed p.A310 0.919 113 0% 78 21.8% 6 50% - - - HMMPfam_PAZ,superfamily_SSF101690 THRAP3 9967 genome.wustl.edu 37 1 36755112 36755112 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005119.3 +1 validated p.R498G 1.000 420 0% 265 25.3% 56 66% probably_damaging(0.969) tolerated(0.05) deleterious(0.757) NULL LSM10 84967 genome.wustl.edu 37 1 36859391 36859391 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032881.1 -1 provisional p.R114W 1.000 83 0% 44 29.5% 75 38.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CSF3R 1441 genome.wustl.edu 37 1 36933248 36933248 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_156039.2 -1 reviewed p.G623 0.002 104 0% 65 13.8% 3 66.6% - - - superfamily_FN_III-like CSF3R 1441 genome.wustl.edu 37 1 36938141 36938141 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_156039.2 -1 reviewed p.R274C 0.009 130 0% 69 14.5% 3 0% benign(0.044) tolerated(0.2) neutral(0.052) HMMSmart_FN3,superfamily_FN_III-like CSF3R 1441 genome.wustl.edu 37 1 36941192 36941192 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_156039.2 -1 reviewed p.K49 0.000 88 0% 46 30.4% 2 0% - - - superfamily_FN_III-like,HMMPfam_Lep_receptor_Ig GRIK3 2899 genome.wustl.edu 37 1 37356573 37356573 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000831.3 -1 reviewed p.T80 0.999 455 0% 285 34.7% 0 - - - - HMMPfam_ANF_receptor,superfamily_SSF53822 ZC3H12A 80149 genome.wustl.edu 37 1 37947263 37947263 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025079.2 +1 validated p.R215 0.000 119 0% 37 35.1% 5 60% - - - NULL ZC3H12A 80149 genome.wustl.edu 37 1 37947286 37947286 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025079.2 +1 validated p.C223Y 1.000 112 0% 40 35% 5 20% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CDCA8 55143 genome.wustl.edu 37 1 38161615 38161615 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018101.2 +1 validated p.A86V 1.000 71 0% 24 33.3% 21 52.3% benign(0.323) deleterious(0.05) neutral(0.447) HMMPfam_Borealin CDCA8 55143 genome.wustl.edu 37 1 38173997 38173997 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018101.2 +1 validated p.R268C 0.978 213 0.5% 116 34.5% 31 51.6% possibly_damaging(0.952) deleterious(0) deleterious(0.840) HMMPfam_Borealin EPHA10 284656 genome.wustl.edu 37 1 38227435 38227435 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001099439.1 -1 validated p.G164 0.956 60 1.7% 36 16.7% 0 - - - - HMMPfam_Ephrin_lbd,HMMSmart_SM00615,superfamily_Galactose-binding domain-like MTF1 4520 genome.wustl.edu 37 1 38300838 38300838 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005955.2 -1 reviewed p.S301 1.000 453 0% 260 27.7% 3 66.6% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SF3A3 10946 genome.wustl.edu 37 1 38433800 38433800 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006802.2 -1 reviewed p.R430C 1.000 604 0% 335 29.3% 88 35.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GJA9 81025 genome.wustl.edu 37 1 39340263 39340263 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030772.3 -1 provisional p.N503T 0.473 168 0% 83 28.9% 1 0% benign(0.079) deleterious(0) neutral(0.450) NULL RHBDL2 54933 genome.wustl.edu 37 1 39384988 39384988 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000372985 -1 known p.R33H 0.000 182 0% 106 22.6% 4 25% benign(0.015) - - NULL MACF1 23499 genome.wustl.edu 37 1 39723627 39723627 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012090.3 +1 reviewed p.R157H 1.000 618 0.2% 368 22.8% 2 50% probably_damaging(1) tolerated(0.06) deleterious(0.823) PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain MACF1 23499 genome.wustl.edu 37 1 39748923 39748923 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012090.3 +1 reviewed p.A258D 1.000 198 0% 138 11.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain MACF1 23499 genome.wustl.edu 37 1 39751304 39751304 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012090.3 +1 reviewed p.P466L 0.997 386 0.3% 215 12.6% 0 - benign(0.201) tolerated(0.06) neutral(0.342) NULL MACF1 23499 genome.wustl.edu 37 1 39798289 39798289 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033044.2 +1 reviewed p.H450R 0.000 286 0% 148 12.8% 0 - benign(0) - - NULL KIAA0754 643314 genome.wustl.edu 37 1 39877575 39877575 + Silent SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015038.1 +1 predicted p.S546 1.000 273 0% 140 15% 1 0% - - - NULL KIAA0754 643314 genome.wustl.edu 37 1 39878495 39878495 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015038.1 +1 predicted p.S853I 0.000 90 0% 51 19.6% 3 66.6% unknown(0) tolerated(0.11) - NULL MACF1 23499 genome.wustl.edu 37 1 39907953 39907953 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000372925 +1 known p.P3248S 1.000 226 0% 111 31.5% 22 36.3% - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat MACF1 23499 genome.wustl.edu 37 1 39908483 39908483 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033044.2 +1 reviewed p.S4844I 1.000 98 0% 44 40.9% 20 40% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin BMP8A 353500 genome.wustl.edu 37 1 39991436 39991436 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181809.3 +1 validated p.R392H 1.000 149 0% 87 24.1% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TGF_beta,HMMSmart_TGFB,superfamily_SSF57501 TRIT1 54802 genome.wustl.edu 37 1 40319712 40319712 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017646.4 -1 validated p.I115N 1.000 145 0% 136 22.8% 14 50% possibly_damaging(0.844) deleterious(0.01) deleterious(0.729) HMMPfam_IPPT,superfamily_P-loop containing nucleoside triphosphate hydrolases RLF 6018 genome.wustl.edu 37 1 40704360 40704360 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012421.3 +1 validated p.R1329H 1.000 149 0.7% 98 12.2% 25 4% probably_damaging(1) tolerated(0.15) deleterious(0.741) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 ZNF642 339559 genome.wustl.edu 37 1 40961603 40961603 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198494.2 +1 validated p.H485Y 1.000 254 0% 124 11.3% 1 0% possibly_damaging(0.929) deleterious(0) deleterious(0.821) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF684 127396 genome.wustl.edu 37 1 41007369 41007369 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152373.3 +1 validated p.H75 0.000 88 0% 78 35.9% 1 0% - - - NULL ZNF684 127396 genome.wustl.edu 37 1 41012550 41012550 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152373.3 +1 validated p.K185N 0.107 263 0.4% 150 14.7% 1 0% probably_damaging(0.957) deleterious(0.01) deleterious(0.806) superfamily_SSF57667 SCMH1 22955 genome.wustl.edu 37 1 41608672 41608672 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001031694.2 -1 validated p.R87H 1.000 282 0.4% 208 16.8% 27 14.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MBT,HMMSmart_SM00561,superfamily_Tudor/PWWP/MBT HIVEP3 59269 genome.wustl.edu 37 1 42047221 42047221 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024503.3 -1 validated p.S1083N 0.628 109 0% 48 10.4% 0 - benign(0.141) tolerated(0.32) neutral(0.036) NULL LEPRE1 64175 genome.wustl.edu 37 1 43218241 43218241 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000431412 -1 known p.P88S 0.000 99 0% 57 24.6% 39 35.8% - - - NULL TIE1 7075 genome.wustl.edu 37 1 43785165 43785165 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005424.2 +1 provisional p.S1024 0.997 438 0% 227 23.8% 10 0% - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like SZT2 23334 genome.wustl.edu 37 1 43892390 43892390 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015284.2 +1 predicted p.A174 0.991 42 0% 18 27.8% 1 100% - - - NULL SZT2 23334 genome.wustl.edu 37 1 43900903 43900903 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015284.2 +1 predicted p.H1080 0.932 155 0% 86 30.2% 8 87.5% - - - NULL SZT2 23334 genome.wustl.edu 37 1 43908492 43908492 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015284.2 +1 predicted p.E1819 1.000 354 0% 164 29.3% 10 0% - - - NULL PTPRF 5792 genome.wustl.edu 37 1 44019259 44019259 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002840.3 +1 reviewed p.R63H 0.993 560 0.4% 254 30.3% 48 66.6% possibly_damaging(0.881) deleterious(0.03) deleterious(0.708) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin PTPRF 5792 genome.wustl.edu 37 1 44071074 44071074 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002840.3 +1 reviewed p.D1117N 0.544 70 0% 32 25% 89 48.3% benign(0) tolerated(0.42) neutral(0.014) NULL PTPRF 5792 genome.wustl.edu 37 1 44072584 44072584 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002840.3 +1 reviewed p.V1268M 1.000 188 0% 80 33.8% 142 46.4% probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL PTPRF 5792 genome.wustl.edu 37 1 44086880 44086880 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002840.3 +1 reviewed p.R1878C 1.000 44 0% 23 34.8% 251 40.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II KDM4A 9682 genome.wustl.edu 37 1 44134806 44134806 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014663.2 +1 reviewed p.R400Q 1.000 247 0.4% 158 29.1% 30 26.6% probably_damaging(0.987) deleterious(0.02) deleterious(0.820) NULL KDM4A 9682 genome.wustl.edu 37 1 44170028 44170028 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014663.2 +1 reviewed p.A1061V 1.000 166 0% 99 33.3% 44 43.1% probably_damaging(0.98) deleterious(0.01) deleterious(0.830) NULL IPO13 9670 genome.wustl.edu 37 1 44426861 44426861 + Splice_Site SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000483886 +1 known NULL 1.000 415 0% 220 21.8% 58 36.2% - - - - SLC6A9 6536 genome.wustl.edu 37 1 44466910 44466910 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_201649.2 -1 validated p.L494M 1.000 297 0% 154 22.1% 21 33.3% benign(0.149) tolerated(0.27) neutral(0.046) HMMPfam_SNF KLF17 128209 genome.wustl.edu 37 1 44595385 44595385 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173484.3 +1 validated p.G148S 0.000 213 0% 112 36.6% 0 - benign(0) tolerated(1) - NULL TMEM53 79639 genome.wustl.edu 37 1 45120573 45120573 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024587.2 -1 provisional p.R164 0.120 68 0% 34 20.6% 5 40% - - - HMMPfam_DUF829,superfamily_alpha/beta-Hydrolases KIF2C 11004 genome.wustl.edu 37 1 45232557 45232557 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006845.3 +1 validated p.E677D 1.000 166 0% 105 30.5% 32 46.8% benign(0.282) tolerated(1) neutral(0.086) NULL PLK3 1263 genome.wustl.edu 37 1 45268524 45268524 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004073.2 +1 validated p.V249A 1.000 83 0% 35 28.6% 16 43.7% possibly_damaging(0.858) tolerated(0.06) deleterious(0.653) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase EIF2B3 8891 genome.wustl.edu 37 1 45444096 45444096 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020365.3 -1 reviewed p.A62V 0.105 791 0% 473 30.4% 25 40% benign(0.001) tolerated(0.09) neutral(0.296) superfamily_Nucleotide-diphospho-sugar transferases HECTD3 79654 genome.wustl.edu 37 1 45469742 45469742 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024602.5 -1 validated p.N779K 1.000 327 0% 151 12.6% 32 12.5% benign(0.345) tolerated(0.08) neutral(0.409) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain HECTD3 79654 genome.wustl.edu 37 1 45475775 45475775 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024602.5 -1 validated p.W214C 1.000 182 0.5% 59 25.4% 22 9% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Galactose-binding domain-like MUTYH 4595 genome.wustl.edu 37 1 45798257 45798257 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001128425.1 -1 reviewed p.A227T 0.992 180 0% 92 27.2% 14 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_HhH-GPD,HMMSmart_SM00478,PatternScan_ENDONUCLEASE_III_2,superfamily_DNA-glycosylase TOE1 114034 genome.wustl.edu 37 1 45809116 45809116 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025077.3 +1 validated p.S425 0.000 172 0% 88 30.7% 27 55.5% - - - HMMPfam_CAF1 AKR1A1 10327 genome.wustl.edu 37 1 46035600 46035600 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006066.2 +1 reviewed p.P317L 1.000 197 0% 104 23.1% 266 22.9% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_NAD(P)-linked oxidoreductase CCDC17 149483 genome.wustl.edu 37 1 46087362 46087362 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001114938.1 -1 provisional p.H346Y 0.004 50 0% 21 28.6% 0 - benign(0.001) tolerated(1) - NULL TMEM69 51249 genome.wustl.edu 37 1 46159216 46159216 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016486.3 +1 validated p.T128N 1.000 435 0% 263 30.4% 66 42.4% probably_damaging(0.991) tolerated(0.2) deleterious(0.493) NULL TMEM69 51249 genome.wustl.edu 37 1 46159231 46159231 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016486.3 +1 validated p.G133V 1.000 394 0% 237 33.8% 71 43.6% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL IPP 3652 genome.wustl.edu 37 1 46193313 46193313 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005897.2 -1 reviewed p.Y346 0.988 243 0% 142 33.8% 16 31.2% - - - HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain MAST2 23139 genome.wustl.edu 37 1 46488936 46488936 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015112.2 +1 validated p.T506I 1.000 232 0% 116 22.4% 18 50% benign(0.028) tolerated(0.25) neutral(0.038) superfamily_Protein kinase-like (PK-like) MAST2 23139 genome.wustl.edu 37 1 46489460 46489460 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015112.2 +1 validated p.R530W 1.000 35 0% 23 21.7% 26 34.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase MAST2 23139 genome.wustl.edu 37 1 46495191 46495191 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015112.2 +1 validated p.L758I 1.000 93 0% 63 27% 15 53.3% possibly_damaging(0.761) tolerated(0.15) deleterious(0.523) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase LRRC41 10489 genome.wustl.edu 37 1 46752007 46752007 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006369.4 -1 validated p.Q174H 1.000 422 0% 177 26.6% 95 44.2% probably_damaging(0.964) deleterious(0) deleterious(0.851) NULL UQCRH 7388 genome.wustl.edu 37 1 46774790 46774790 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006004.2 +1 provisional p.E24D 0.999 105 0% 66 19.7% 387 44.7% benign(0.141) tolerated(0.14) neutral(0.262) superfamily_Non-heme 11 kDa protein of cytochrome bc1 complex (Ubiquinol-cytochrome c reductase) DMBX1 127343 genome.wustl.edu 37 1 46972828 46972828 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_147192.2 +1 reviewed p.R49H 1.000 98 0% 39 10.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CYP4Z1 199974 genome.wustl.edu 37 1 47571849 47571849 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178134.2 +1 reviewed p.L373I 0.956 694 0% 388 18.3% 1 100% probably_damaging(0.995) deleterious(0.03) deleterious(0.822) HMMPfam_p450,superfamily_Cytochrome_P450 SLC5A9 200010 genome.wustl.edu 37 1 48695003 48695003 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001135181.1 +1 validated p.V151I 0.996 220 0% 78 24.4% 0 - possibly_damaging(0.696) tolerated(0.24) neutral(0.287) HMMPfam_SSF BEND5 79656 genome.wustl.edu 37 1 49224864 49224864 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024603.2 -1 validated p.G151 1.000 53 1.9% 22 36.4% 1 0% - - - NULL OSBPL9 114883 genome.wustl.edu 37 1 52237812 52237812 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_148909.1 +1 reviewed p.E347* 1.000 310 0% 212 29.2% 24 0% - - - NULL NRD1 4898 genome.wustl.edu 37 1 52271224 52271224 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002525.2 -1 validated p.R775H 1.000 124 0% 95 30.5% 88 43.1% possibly_damaging(0.658) tolerated(0.49) neutral(0.243) superfamily_Metalloenz_metal-bd NRD1 4898 genome.wustl.edu 37 1 52279717 52279717 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002525.2 -1 validated p.Y623C 1.000 149 0% 130 43.8% 71 39.4% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL ORC1 4998 genome.wustl.edu 37 1 52849500 52849500 + Splice_Site SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004153.2 -1 reviewed e11+2 1.000 98 0% 39 35.9% 0 - - - - - PRPF38A 84950 genome.wustl.edu 37 1 52880495 52880495 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032864.3 +1 validated p.R271* 1.000 148 0% 88 31.8% 54 27.7% - - - NULL SCP2 6342 genome.wustl.edu 37 1 53453727 53453727 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002979.3 +1 reviewed p.G334* 1.000 172 0% 112 25% 20 0% - - - HMMPfam_Thiolase_C,superfamily_Thiolase-like MAGOH 4116 genome.wustl.edu 37 1 53699325 53699325 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002370.2 -1 reviewed e3-1 1.000 434 0.5% 228 29.4% 1 100% - - - - TMEM59 9528 genome.wustl.edu 37 1 54502309 54502309 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004872.3 -1 provisional p.A264S 1.000 191 0% 132 17.4% 266 22.9% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL FAM151A 338094 genome.wustl.edu 37 1 55076124 55076124 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_176782.2 -1 validated p.V349I 0.110 134 0% 69 27.5% 1 0% benign(0) tolerated(0.57) neutral(0.006) NULL HEATR8 374977 genome.wustl.edu 37 1 55119443 55119443 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001039464.2 +1 validated p.G282S 0.000 559 0% 358 29.3% 0 - benign(0) tolerated(0.62) neutral(0.004) NULL PARS2 25973 genome.wustl.edu 37 1 55223923 55223923 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152268.3 -1 validated p.G304 1.000 415 0% 231 26.8% 6 33.3% - - - superfamily_Class II aaRS and biotin synthetases TTC22 55001 genome.wustl.edu 37 1 55251777 55251777 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001114108.1 -1 validated p.R300H 1.000 156 0% 58 22.4% 2 0% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like DHCR24 1718 genome.wustl.edu 37 1 55317925 55317925 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014762.3 -1 reviewed p.C511Y 1.000 138 0% 73 17.8% 122 19.6% possibly_damaging(0.753) deleterious(0.01) deleterious(0.682) NULL DHCR24 1718 genome.wustl.edu 37 1 55337260 55337260 + Silent SNP G G A rs143779194 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014762.3 -1 reviewed p.A213 0.062 87 0% 48 39.6% 164 45.7% - - - superfamily_FAD-binding_2 DHCR24 1718 genome.wustl.edu 37 1 55349335 55349335 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014762.3 -1 reviewed p.M115L 1.000 466 0% 264 24.2% 144 44.4% benign(0.001) tolerated(0.71) neutral(0.002) HMMPfam_FAD_binding_4,superfamily_FAD-binding_2 DHCR24 1718 genome.wustl.edu 37 1 55349443 55349443 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014762.3 -1 reviewed p.R79W 1.000 220 0% 115 25.2% 151 43.7% unknown(0) deleterious(0) - superfamily_FAD-binding_2 USP24 23358 genome.wustl.edu 37 1 55544309 55544309 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015306.2 -1 validated p.R2246W 1.000 119 0% 81 39.5% 9 22.2% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL USP24 23358 genome.wustl.edu 37 1 55627938 55627938 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015306.2 -1 validated e7-1 1.000 80 0% 63 30.2% 0 - - - - - USP24 23358 genome.wustl.edu 37 1 55638130 55638130 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015306.2 -1 validated p.L96 0.989 271 0% 197 10.2% 0 - - - - NULL PRKAA2 5563 genome.wustl.edu 37 1 57140117 57140117 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006252.3 +1 validated p.R53H 1.000 450 0% 429 29.1% 0 - probably_damaging(0.976) deleterious(0) deleterious(0.863) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase PRKAA2 5563 genome.wustl.edu 37 1 57161618 57161618 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006252.3 +1 validated p.G192C 1.000 673 0.1% 430 13.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase PRKAA2 5563 genome.wustl.edu 37 1 57169985 57169985 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006252.3 +1 validated p.S377I 1.000 270 0% 143 14% 0 - benign(0.281) tolerated(0.12) neutral(0.347) superfamily_Kinase_like DAB1 1600 genome.wustl.edu 37 1 57491682 57491682 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021080.3 -1 reviewed p.S253Y 1.000 359 0% 198 31.8% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL HOOK1 51361 genome.wustl.edu 37 1 60331601 60331601 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000371208 +1 known p.A601V 1.000 282 0% 214 24.3% 9 55.5% possibly_damaging(0.736) deleterious(0.01) deleterious(0.675) HMMPfam_HOOK,superfamily_Prefoldin C1orf87 127795 genome.wustl.edu 37 1 60456478 60456478 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152377.1 -1 predicted p.R503H 1.000 820 0% 629 13% 1 100% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL L1TD1 54596 genome.wustl.edu 37 1 62675733 62675733 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019079.4 +1 validated p.A429 0.017 245 0.8% 130 37.7% 0 - - - - NULL KANK4 163782 genome.wustl.edu 37 1 62734111 62734111 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181712.4 -1 validated p.S693 0.000 96 0% 40 32.5% 0 - - - - NULL KANK4 163782 genome.wustl.edu 37 1 62737155 62737155 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181712.4 -1 validated p.N669 1.000 253 0% 155 21.9% 0 - - - - NULL USP1 7398 genome.wustl.edu 37 1 62910447 62910447 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001017415.1 +1 reviewed p.D199A 1.000 177 0% 117 19.7% 32 43.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UCH,superfamily_SSF54001 DOCK7 85440 genome.wustl.edu 37 1 62971361 62971361 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033407.2 -1 validated p.V1504I 1.000 323 0% 199 27.1% 19 52.6% possibly_damaging(0.646) tolerated(0.68) neutral(0.229) NULL ALG6 29929 genome.wustl.edu 37 1 63879817 63879817 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013339.3 +1 reviewed p.S301I 1.000 160 0% 129 27.1% 17 0% possibly_damaging(0.904) tolerated(0.05) deleterious(0.704) HMMPfam_Alg6_Alg8 EFCAB7 84455 genome.wustl.edu 37 1 64021087 64021087 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032437.2 +1 validated p.T372I 1.000 299 0% 198 27.8% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ROR1 4919 genome.wustl.edu 37 1 64643144 64643144 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005012.2 +1 validated p.R474C 1.000 631 0.3% 361 33% 3 66.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) CACHD1 57685 genome.wustl.edu 37 1 65129452 65129452 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020925.2 +1 validated p.R625C 1.000 265 0% 154 27.9% 1 100% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL CACHD1 57685 genome.wustl.edu 37 1 65157173 65157173 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020925.2 +1 validated p.H1201N 1.000 233 0% 139 35.3% 10 50% possibly_damaging(0.444) tolerated(0.07) neutral(0.464) NULL JAK1 3716 genome.wustl.edu 37 1 65321199 65321199 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002227.2 -1 reviewed p.K547 1.000 27 0% 13 38.5% 14 14.2% - - - superfamily_SSF55550 JAK1 3716 genome.wustl.edu 37 1 65332777 65332777 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002227.2 -1 reviewed p.K254 1.000 630 0% 332 23.2% 4 0% - - - HMMSmart_B41 DNAJC6 9829 genome.wustl.edu 37 1 65858261 65858261 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014787.2 +1 validated p.S482N 0.982 134 0% 63 36.5% 0 - benign(0) tolerated(0.49) neutral(0.011) NULL PDE4B 5142 genome.wustl.edu 37 1 66829177 66829177 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001037341.1 +1 reviewed p.V403M 1.000 120 0% 94 26.6% 13 0% probably_damaging(0.999) tolerated(0.09) deleterious(0.787) HMMSmart_SM00471,superfamily_HD-domain/PDEase-like PDE4B 5142 genome.wustl.edu 37 1 66833501 66833501 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001037341.1 +1 reviewed p.R503C 1.000 573 0% 414 28% 1 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_PDEase_I,HMMSmart_SM00471,superfamily_HD-domain/PDEase-like SGIP1 84251 genome.wustl.edu 37 1 67160159 67160159 + Silent SNP G G A rs144911780 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000371039 +1 known p.S337 1.000 71 0% 38 26.3% 0 - - - - NULL SGIP1 84251 genome.wustl.edu 37 1 67205069 67205069 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032291.2 +1 validated p.R695* 1.000 59 0% 28 25% 0 - - - - NULL SGIP1 84251 genome.wustl.edu 37 1 67205130 67205130 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032291.2 +1 validated p.T715M 0.995 87 0% 21 33.3% 1 0% possibly_damaging(0.456) deleterious(0.03) deleterious(0.514) NULL SGIP1 84251 genome.wustl.edu 37 1 67207114 67207114 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032291.2 +1 validated p.A820V 1.000 111 0% 85 32.9% 0 - possibly_damaging(0.515) tolerated(0.43) neutral(0.187) NULL INSL5 10022 genome.wustl.edu 37 1 67266858 67266858 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005478.3 -1 reviewed p.A16V 0.048 212 0% 143 28.7% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_Insulin-like SLC35D1 23169 genome.wustl.edu 37 1 67474823 67474823 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015139.2 -1 reviewed p.V302I 1.000 137 0% 83 21.7% 3 66.6% benign(0.006) tolerated(0.45) neutral(0.012) HMMPfam_TPT IL23R 149233 genome.wustl.edu 37 1 67635098 67635098 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144701.2 +1 reviewed p.I48 0.990 413 0% 306 27.8% 0 - - - - NULL IL12RB2 3595 genome.wustl.edu 37 1 67804310 67804310 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001559.2 +1 reviewed p.P321H 0.991 188 0% 120 35.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Fibronectin type III DIRAS3 9077 genome.wustl.edu 37 1 68512659 68512659 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004675.2 -1 reviewed p.R108W 1.000 180 0.6% 76 35.5% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,superfamily_P-loop containing nucleoside triphosphate hydrolases DIRAS3 9077 genome.wustl.edu 37 1 68512867 68512867 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004675.2 -1 reviewed p.Y38 0.998 107 0% 46 21.7% 1 0% - - - HMMSmart_SM00173,HMMSmart_SM00175,superfamily_P-loop containing nucleoside triphosphate hydrolases RPE65 6121 genome.wustl.edu 37 1 68897259 68897259 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000329.2 -1 reviewed p.G380C 1.000 130 0% 73 31.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RPE65 RPE65 6121 genome.wustl.edu 37 1 68912477 68912477 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000329.2 -1 reviewed p.S54F 0.992 128 0% 82 29.3% 0 - possibly_damaging(0.897) deleterious(0.01) deleterious(0.760) HMMPfam_RPE65 ANKRD13C 81573 genome.wustl.edu 37 1 70736557 70736557 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030816.4 -1 validated p.G493C 1.000 267 0% 141 26.2% 24 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FPGT 8790 genome.wustl.edu 37 1 74671308 74671308 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003838.2 +1 reviewed p.R526H 1.000 245 0.4% 148 32.4% 16 68.7% probably_damaging(0.998) tolerated(0.13) deleterious(0.727) HMMPfam_Fucokinase TNNI3K 51086 genome.wustl.edu 37 1 74929222 74929222 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001112808.1 +1 validated p.N804 0.973 214 0% 144 31.9% 3 33.3% - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) C1orf173 127254 genome.wustl.edu 37 1 75097582 75097582 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001002912.4 -1 validated p.S212T 0.012 573 0% 439 30.8% 7 71.4% benign(0.032) tolerated(0.5) neutral(0.011) NULL CRYZ 1429 genome.wustl.edu 37 1 75190414 75190414 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130042.1 -1 reviewed p.P31L 0.977 365 0.5% 239 29.3% 43 48.8% probably_damaging(0.996) deleterious(0.03) deleterious(0.826) superfamily_GroES_like MSH4 4438 genome.wustl.edu 37 1 76262679 76262679 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002440.2 +1 validated p.R3 0.194 107 0% 66 34.8% 0 - - - - NULL MSH4 4438 genome.wustl.edu 37 1 76276428 76276428 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002440.2 +1 validated p.S212L 1.000 198 0% 135 20.7% 0 - possibly_damaging(0.878) tolerated(0.18) neutral(0.398) HMMPfam_MutS_II,superfamily_DNA_mismatch_repair_MutS_connt MSH4 4438 genome.wustl.edu 37 1 76342662 76342662 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002440.2 +1 validated p.Y449* 0.988 108 0% 93 24.7% 0 - - - - HMMPfam_MutS_III,HMMSmart_MUTSd,superfamily_DNA_repair_MutS_domIII ASB17 127247 genome.wustl.edu 37 1 76387786 76387786 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080868.2 -1 validated p.V220 0.740 134 0% 77 23.4% 0 - - - - NULL ASB17 127247 genome.wustl.edu 37 1 76397772 76397772 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080868.2 -1 validated p.D69Y 1.000 365 0% 213 31.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ST6GALNAC3 256435 genome.wustl.edu 37 1 76779497 76779497 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152996.2 +1 validated p.S9Y 0.990 229 0.4% 161 13.7% 1 0% benign(0.345) tolerated(0.05) neutral(0.454) NULL ST6GALNAC3 256435 genome.wustl.edu 37 1 76779637 76779637 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152996.2 +1 validated p.R56W 1.000 217 0% 121 22.3% 1 0% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) HMMPfam_Glyco_transf_29 ST6GALNAC3 256435 genome.wustl.edu 37 1 77093186 77093186 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152996.2 +1 validated p.A225T 1.000 514 0% 301 23.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Glyco_transf_29 ST6GALNAC5 81849 genome.wustl.edu 37 1 77510148 77510148 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030965.1 +1 provisional p.S174I 1.000 184 0% 79 31.6% 0 - probably_damaging(0.961) tolerated(0.15) deleterious(0.645) HMMPfam_Glyco_transf_29 ST6GALNAC5 81849 genome.wustl.edu 37 1 77528735 77528735 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030965.1 +1 provisional p.S285 0.993 379 0% 266 32% 1 0% - - - HMMPfam_Glyco_transf_29 NEXN 91624 genome.wustl.edu 37 1 78392196 78392196 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144573.3 +1 reviewed p.R196H 0.203 321 0% 207 28.5% 2 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL ELTD1 64123 genome.wustl.edu 37 1 79412080 79412080 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022159.3 -1 validated p.S68 1.000 102 0% 73 13.7% 0 - - - - HMMSmart_EGF_CA,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_SSF57196 LPHN2 23266 genome.wustl.edu 37 1 82372776 82372776 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012302.2 +1 reviewed p.R50* 0.996 297 0% 236 32.2% 14 21.4% - - - HMMPfam_Gal_Lectin TTLL7 79739 genome.wustl.edu 37 1 84372134 84372134 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024686.4 -1 validated p.R669W 0.976 224 0% 191 24.6% 2 50% probably_damaging(0.971) deleterious(0.04) deleterious(0.762) NULL PRKACB 5567 genome.wustl.edu 37 1 84650820 84650820 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182948.2 +1 reviewed p.P172H 1.000 262 0% 220 26.4% 10 0% possibly_damaging(0.867) tolerated(0.07) deleterious(0.655) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase RPF1 80135 genome.wustl.edu 37 1 84961117 84961117 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025065.6 +1 validated p.V226 1.000 93 0% 49 24.5% 45 28.8% - - - HMMPfam_Brix CTBS 1486 genome.wustl.edu 37 1 85035673 85035673 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004388.2 -1 validated p.L156I 1.000 83 0% 52 17.3% 7 14.2% possibly_damaging(0.696) deleterious(0.03) deleterious(0.614) HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases MCOLN3 55283 genome.wustl.edu 37 1 85498580 85498580 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018298.9 -1 validated p.L204M 1.000 1335 0% 782 29.3% 0 - benign(0.396) tolerated(0.23) neutral(0.169) NULL WDR63 126820 genome.wustl.edu 37 1 85592266 85592266 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145172.3 +1 validated p.G729R 0.996 195 0% 142 39.4% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_WD40 repeat-like SYDE2 84144 genome.wustl.edu 37 1 85656288 85656288 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032184.1 -1 validated p.P298H 0.030 358 0.3% 246 31.3% 3 0% benign(0.029) deleterious(0.01) neutral(0.407) NULL DDAH1 23576 genome.wustl.edu 37 1 85787231 85787231 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012137.3 -1 reviewed p.D254E 1.000 255 0% 118 10.2% 61 8.1% benign(0) tolerated(0.23) neutral(0.042) HMMPfam_Amidinotransf,superfamily_Pentein ZNHIT6 54680 genome.wustl.edu 37 1 86172137 86172137 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017953.3 -1 validated p.R237Q 0.920 471 0.4% 291 26.5% 22 50% possibly_damaging(0.948) tolerated(0.38) neutral(0.409) HMMPfam_zf-HIT COL24A1 255631 genome.wustl.edu 37 1 86591399 86591399 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152890.5 -1 validated p.S207N 1.000 196 0% 146 25.3% 0 - possibly_damaging(0.837) deleterious(0.02) deleterious(0.703) HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 CLCA1 1179 genome.wustl.edu 37 1 86934716 86934716 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001285.3 +1 reviewed p.S21I 0.688 573 0.2% 366 29.5% 0 - probably_damaging(0.968) tolerated(0.09) deleterious(0.706) HMMPfam_CLCA_N CLCA1 1179 genome.wustl.edu 37 1 86954765 86954765 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001285.3 +1 reviewed p.N423 0.000 203 0% 128 30.5% 0 - - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like PKN2 5586 genome.wustl.edu 37 1 89294193 89294193 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006256.2 +1 validated p.F817I 1.000 169 0% 121 15.7% 20 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase GBP3 2635 genome.wustl.edu 37 1 89480264 89480264 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018284.2 -1 reviewed p.G132R 1.000 241 0% 126 28.6% 31 22.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52540 GBP1 2633 genome.wustl.edu 37 1 89519075 89519075 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002053.2 -1 validated p.T581M 0.000 226 0% 105 26.7% 28 3.5% benign(0.001) tolerated(0.08) neutral(0.300) superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain GBP2 2634 genome.wustl.edu 37 1 89583361 89583361 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004120.3 -1 reviewed p.A175V 0.007 155 0% 103 34% 25 0% benign(0.018) deleterious(0.01) neutral(0.406) HMMPfam_GBP,superfamily_SSF52540 ENSG00000225492 0 genome.wustl.edu 37 1 89885878 89885878 + Splice_Site SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000513638 +1 known NULL 1.000 266 0% 122 10.7% 0 - - - - - LRRC8C 84230 genome.wustl.edu 37 1 90180174 90180174 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032270.4 +1 validated p.C682Y 1.000 190 0% 114 28.1% 9 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like LRRC8D 55144 genome.wustl.edu 37 1 90399676 90399676 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001134479.1 +1 validated p.E350A 0.652 268 0% 172 29.1% 21 38% benign(0) tolerated(0.51) neutral(0.009) NULL LRRC8D 55144 genome.wustl.edu 37 1 90400492 90400492 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001134479.1 +1 validated p.G622D 1.000 204 0% 107 35.5% 32 56.2% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_SSF52058 ZNF326 284695 genome.wustl.edu 37 1 90470742 90470742 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182976.2 +1 validated p.D50Y 1.000 321 0% 176 34.1% 12 16.6% possibly_damaging(0.934) deleterious(0.04) deleterious(0.729) NULL ZNF326 284695 genome.wustl.edu 37 1 90472966 90472966 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182976.2 +1 validated p.S91F 1.000 376 0% 218 27.1% 8 62.5% probably_damaging(0.977) deleterious(0.02) deleterious(0.802) NULL ZNF644 84146 genome.wustl.edu 37 1 91403877 91403877 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_201269.1 -1 validated p.H1012Y 1.000 425 0.2% 327 26.9% 15 53.3% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL TGFBR3 7049 genome.wustl.edu 37 1 92195464 92195464 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003243.3 -1 validated p.Y212C 1.000 421 0% 237 29.1% 1 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL GLMN 11146 genome.wustl.edu 37 1 92763552 92763552 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_053274.2 -1 reviewed p.A2V 1.000 53 0% 35 20% 8 12.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL EVI5 7813 genome.wustl.edu 37 1 93159856 93159856 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005665.4 -1 validated p.Q377H 1.000 174 0% 109 27.5% 9 55.5% possibly_damaging(0.945) deleterious(0.03) deleterious(0.754) superfamily_Ypt/Rab-GAP domain of gyp1p CCDC18 343099 genome.wustl.edu 37 1 93721923 93721923 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_206886.2 +1 validated p.T1243I 0.943 436 0% 288 16.3% 1 0% benign(0.244) tolerated(0.09) neutral(0.321) NULL DNTTIP2 30836 genome.wustl.edu 37 1 94342418 94342418 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014597.3 -1 provisional p.A358V 0.003 390 0% 248 31.9% 59 45.7% possibly_damaging(0.659) deleterious(0) deleterious(0.677) NULL DNTTIP2 30836 genome.wustl.edu 37 1 94343010 94343010 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014597.3 -1 provisional p.T161A 0.522 298 0% 149 28.2% 38 39.4% possibly_damaging(0.725) deleterious(0) deleterious(0.708) NULL GCLM 2730 genome.wustl.edu 37 1 94362191 94362191 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002061.2 -1 reviewed p.L175M 1.000 406 0% 218 35.8% 40 35% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Aldo_ket_red,superfamily_NAD(P)-linked oxidoreductase ABCA4 24 genome.wustl.edu 37 1 94508378 94508378 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000350.2 -1 reviewed p.T1089 0.998 175 0% 84 15.5% 0 - - - - HMMPfam_ABC_tran,HMMSmart_AAA,superfamily_SSF52540 ABCA4 24 genome.wustl.edu 37 1 94586597 94586597 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000350.2 -1 reviewed p.G2D 1.000 105 0% 52 19.2% 0 - possibly_damaging(0.623) deleterious(0.01) deleterious(0.623) NULL ARHGAP29 9411 genome.wustl.edu 37 1 94668168 94668168 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004815.3 -1 validated p.G359R 0.999 303 0% 142 33.8% 8 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL SLC44A3 126969 genome.wustl.edu 37 1 95360465 95360465 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001114106.1 +1 validated p.A650V 0.555 120 0% 72 25% 13 15.3% benign(0.014) tolerated(0.06) neutral(0.323) NULL ALG14 199857 genome.wustl.edu 37 1 95538365 95538365 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144988.3 -1 validated p.D30 0.000 174 0% 98 10.2% 15 40% - - - NULL LPPR4 9890 genome.wustl.edu 37 1 99772408 99772408 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014839.4 +1 reviewed p.E712K 0.990 192 0% 135 32.6% 0 - possibly_damaging(0.496) tolerated(0.15) neutral(0.406) NULL AGL 178 genome.wustl.edu 37 1 100366418 100366418 + Splice_Site SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000028.2 +1 reviewed e25+1 1.000 292 0% 173 32.4% 0 - - - - - CCDC76 54482 genome.wustl.edu 37 1 100605243 100605243 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019083.2 +1 validated p.D100 1.000 133 0% 70 14.3% 8 25% - - - NULL LRRC39 127495 genome.wustl.edu 37 1 100620716 100620716 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144620.2 -1 provisional p.T235A 0.993 165 0% 116 12.1% 2 50% benign(0.428) tolerated(0.07) neutral(0.458) HMMSmart_SM00369,superfamily_L domain-like DPH5 51611 genome.wustl.edu 37 1 101458270 101458270 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001077394.1 -1 reviewed p.R186Q 0.983 292 0.3% 181 29.3% 54 29.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_TP_methylase,superfamily_Tetrapyrrole methylase OLFM3 118427 genome.wustl.edu 37 1 102270459 102270459 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_058170.2 -1 validated p.D238Y 1.000 211 0% 155 27.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_OLF,HMMSmart_SM00284 OLFM3 118427 genome.wustl.edu 37 1 102290755 102290755 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_058170.2 -1 validated p.L140R 1.000 247 0% 107 15% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LOC100129138 100129138 genome.wustl.edu 37 1 104615882 104615882 + RNA SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XR_036957.2 +1 model NULL 0.005 82 0% 35 25.7% 0 - - - - - FAM102B 284611 genome.wustl.edu 37 1 109171363 109171363 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001010883.2 +1 validated p.A303T 1.000 245 0% 148 25.7% 8 25% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL FNDC7 163479 genome.wustl.edu 37 1 109270577 109270577 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001144937.1 +1 provisional p.A420V 0.464 512 0.2% 274 32.8% 0 - benign(0.343) tolerated(0.55) neutral(0.115) HMMSmart_SM00060,superfamily_Fibronectin type III KIAA1324 57535 genome.wustl.edu 37 1 109716148 109716148 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020775.3 +1 validated p.S250L 0.968 325 0% 173 37% 379 47.2% possibly_damaging(0.839) tolerated(0.32) neutral(0.345) superfamily_Growth factor receptor domain KIAA1324 57535 genome.wustl.edu 37 1 109741257 109741257 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020775.3 +1 validated p.S821N 0.848 75 0% 41 19.5% 568 41.1% benign(0.002) tolerated(1) - superfamily_Mannose 6-phosphate receptor domain CELSR2 1952 genome.wustl.edu 37 1 109794534 109794534 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001408.2 +1 reviewed p.T611 0.445 61 0% 20 30% 10 50% - - - superfamily_Cadherin CELSR2 1952 genome.wustl.edu 37 1 109795741 109795741 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001408.2 +1 reviewed p.L1014I 0.983 53 0% 23 30.4% 15 53.3% benign(0.005) tolerated(0.55) neutral(0.007) HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin CELSR2 1952 genome.wustl.edu 37 1 109804151 109804151 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001408.2 +1 reviewed p.R1400C 1.000 135 0% 47 14.9% 12 8.3% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 CELSR2 1952 genome.wustl.edu 37 1 109811341 109811341 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001408.2 +1 reviewed p.R2153W 1.000 89 0% 34 20.6% 22 18.1% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL PSRC1 84722 genome.wustl.edu 37 1 109823732 109823732 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005290.3 -1 reviewed p.R221 0.100 27 0% 12 41.7% 7 28.5% - - - NULL MYBPHL 343263 genome.wustl.edu 37 1 109840097 109840097 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001010985.2 -1 validated p.R126H 0.012 97 0% 53 34% 0 - benign(0.002) tolerated(0.05) neutral(0.345) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin SYPL2 284612 genome.wustl.edu 37 1 110018265 110018265 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001040709.1 +1 validated p.V64 0.999 176 0% 85 27.1% 2 0% - - - HMMPfam_MARVEL ATXN7L2 127002 genome.wustl.edu 37 1 110033851 110033851 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153340.4 +1 validated p.S556P 0.617 81 0% 34 17.6% 8 62.5% probably_damaging(0.989) deleterious(0.02) deleterious(0.823) NULL GSTM4 2948 genome.wustl.edu 37 1 110198933 110198933 + RNA SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NR_024538.1 +1 reviewed NULL 0.000 41 0% 25 28% 0 - - - - - GSTM5 2949 genome.wustl.edu 37 1 110257640 110257640 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000851.3 +1 reviewed p.K144 1.000 252 0% 126 24.6% 3 0% - - - HMMPfam_GST_C,superfamily_Glutathione S-transferase (GST) C-terminal domain EPS8L3 79574 genome.wustl.edu 37 1 110301935 110301935 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_139053.1 -1 reviewed p.S110 0.781 107 0% 52 32.7% 0 - - - - HMMPfam_PTB AHCYL1 10768 genome.wustl.edu 37 1 110527733 110527735 + In_Frame_Del DEL AGG AGG - novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006621.4 +1 validated p.E21in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL FAM40A 85369 genome.wustl.edu 37 1 110583267 110583267 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033088.2 +1 validated p.A198T 1.000 24 0% 12 33.3% 11 27.2% probably_damaging(0.998) tolerated(0.4) deleterious(0.490) HMMPfam_N1221 KCNC4 3749 genome.wustl.edu 37 1 110768708 110768708 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004978.3 +1 reviewed p.R576H 1.000 54 1.9% 24 54.2% 4 50% probably_damaging(0.98) tolerated(0.18) deleterious(0.480) NULL RBM15 64783 genome.wustl.edu 37 1 110882497 110882497 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022768.4 +1 validated p.A157V 1.000 23 0% 13 46.2% 2 50% benign(0.002) tolerated(0.23) neutral(0.042) NULL CHIA 27159 genome.wustl.edu 37 1 111860387 111860387 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_201653.2 +1 validated p.S189P 1.000 273 0% 197 27.9% 0 - benign(0.028) tolerated(0.24) neutral(0.039) HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases ATP5F1 515 genome.wustl.edu 37 1 111999277 111999277 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001688.4 +1 reviewed p.A138V 0.959 281 0% 147 15% 434 25.8% benign(0) tolerated(0.72) neutral(0.002) HMMPfam_Mt_ATP-synt_B ATP5F1 515 genome.wustl.edu 37 1 112003549 112003549 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001688.4 +1 reviewed p.T235I 1.000 225 0% 138 12.3% 384 14.3% benign(0.156) deleterious(0) neutral(0.459) HMMPfam_Mt_ATP-synt_B DDX20 11218 genome.wustl.edu 37 1 112308658 112308658 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007204.4 +1 reviewed p.C538R 0.000 556 0% 304 28.3% 33 54.5% possibly_damaging(0.694) deleterious(0) deleterious(0.694) NULL KCND3 3752 genome.wustl.edu 37 1 112524653 112524653 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004980.3 -1 reviewed p.A232 0.980 44 0% 22 18.2% 1 0% - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CTTNBP2NL 55917 genome.wustl.edu 37 1 112998951 112998951 + Silent SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018704.2 +1 validated p.A279 0.017 725 0% 416 18% 12 16.6% - - - HMMPfam_CortBP2 CTTNBP2NL 55917 genome.wustl.edu 37 1 112999421 112999421 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018704.2 +1 validated p.R436H 0.998 824 0% 524 17.9% 12 16.6% probably_damaging(0.999) tolerated(0.4) deleterious(0.506) HMMPfam_CortBP2 SLC16A1 6566 genome.wustl.edu 37 1 113464672 113464672 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003051.3 -1 reviewed p.I101V 1.000 231 0% 155 13.5% 56 12.5% benign(0.006) tolerated(0.97) - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter LRIG2 9860 genome.wustl.edu 37 1 113655143 113655143 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014813.1 +1 provisional p.R614H 1.000 228 0.4% 136 34.6% 6 66.6% probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 LRIG2 9860 genome.wustl.edu 37 1 113655146 113655146 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014813.1 +1 provisional p.T615I 1.000 229 0% 138 15.9% 7 14.2% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 RSBN1 54665 genome.wustl.edu 37 1 114309815 114309815 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018364.3 -1 validated p.R614H 1.000 109 0% 47 31.9% 11 36.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL AP4B1 10717 genome.wustl.edu 37 1 114438612 114438612 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006594.2 -1 validated p.R520H 1.000 230 0% 135 28.9% 24 41.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Adaptin_N,superfamily_ARM-type_fold DCLRE1B 64858 genome.wustl.edu 37 1 114449735 114449735 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022836.3 +1 validated p.S103P 0.978 361 0.3% 233 13.7% 9 11.1% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Lactamase_B,superfamily_SSF56281 DCLRE1B 64858 genome.wustl.edu 37 1 114453944 114453944 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022836.3 +1 validated p.R244C 0.031 201 0% 147 24.5% 11 45.4% possibly_damaging(0.916) deleterious(0.01) deleterious(0.772) HMMPfam_DRMBL HIPK1 204851 genome.wustl.edu 37 1 114483537 114483537 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198268.1 +1 reviewed p.V178I 1.000 517 0% 331 17.2% 8 37.5% possibly_damaging(0.869) tolerated(0.09) deleterious(0.633) superfamily_Protein kinase-like (PK-like) HIPK1 204851 genome.wustl.edu 37 1 114505013 114505013 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198268.1 +1 reviewed p.A686S 1.000 239 0.4% 135 28.9% 22 50% possibly_damaging(0.944) tolerated(0.07) deleterious(0.708) NULL SYT6 148281 genome.wustl.edu 37 1 114680226 114680226 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_205848.2 -1 validated p.R236H 1.000 115 0% 53 18.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB SYT6 148281 genome.wustl.edu 37 1 114682236 114682236 + Splice_Site SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_205848.2 -1 validated e1+1 1.000 42 0% 25 16% 0 - - - - - TRIM33 51592 genome.wustl.edu 37 1 114940421 114940421 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000448034 -1 known p.Q839* 1.000 435 0% 308 28.9% 17 47% benign(0.073) tolerated(0.13) neutral(0.258) HMMSmart_SM00297,superfamily_Bromodomain TRIM33 51592 genome.wustl.edu 37 1 115005829 115005829 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015906.3 -1 reviewed p.V274I 1.000 180 0% 87 36.8% 6 66.6% probably_damaging(0.988) deleterious(0.02) deleterious(0.821) HMMPfam_zf-B_box,HMMSmart_SM00336,HMMSmart_SM00184,superfamily_RING/U-box BCAS2 10286 genome.wustl.edu 37 1 115113347 115113347 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005872.2 -1 validated p.H148 0.889 81 1.2% 38 34.2% 67 17.9% - - - HMMPfam_BCAS2 DENND2C 163259 genome.wustl.edu 37 1 115141977 115141977 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198459.3 -1 validated p.D677G 1.000 222 0% 119 23.5% 1 0% probably_damaging(0.988) deleterious(0.01) deleterious(0.843) HMMPfam_DENN,HMMSmart_DENN DENND2C 163259 genome.wustl.edu 37 1 115168168 115168168 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198459.3 -1 validated p.S146 0.864 409 0% 330 29.4% 1 0% - - - NULL AMPD1 270 genome.wustl.edu 37 1 115226823 115226823 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000036.2 -1 reviewed p.P182T 1.000 306 0% 207 30% 0 - benign(0.199) tolerated(0.07) neutral(0.338) NULL ATP1A1 476 genome.wustl.edu 37 1 116930052 116930052 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000701.7 +1 reviewed p.I109S 0.992 352 0% 173 23.7% 116 1.7% benign(0) deleterious(0.02) neutral(0.383) HMMPfam_Cation_ATPase_N,superfamily_Calcium ATPase transmembrane domain M ATP1A1 476 genome.wustl.edu 37 1 116933514 116933514 + Splice_Site SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000701.7 +1 reviewed e10+1 1.000 226 0% 122 28.7% 0 - - - - - IGSF3 3321 genome.wustl.edu 37 1 117131530 117131530 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001542.2 -1 validated p.G762 1.000 412 0% 212 32.1% 9 22.2% - - - HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 CD101 9398 genome.wustl.edu 37 1 117561138 117561138 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004258.3 +1 validated p.A658D 0.854 233 0% 167 25.7% 3 33.3% probably_damaging(0.981) deleterious(0.01) deleterious(0.831) HMMSmart_IG CD101 9398 genome.wustl.edu 37 1 117576518 117576518 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004258.3 +1 validated p.P954H 0.000 865 0% 521 26.9% 5 40% possibly_damaging(0.845) deleterious(0.02) deleterious(0.707) NULL TTF2 8458 genome.wustl.edu 37 1 117631596 117631596 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003594.3 +1 reviewed p.S778 0.385 275 0% 147 23.8% 11 63.6% - - - HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases TRIM45 80263 genome.wustl.edu 37 1 117661185 117661185 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025188.3 -1 reviewed p.I231 0.996 306 0% 142 27.5% 16 62.5% - - - NULL TRIM45 80263 genome.wustl.edu 37 1 117663431 117663431 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025188.3 -1 reviewed p.Q131H 1.000 234 0% 109 24.8% 12 75% benign(0.017) tolerated(0.12) neutral(0.261) HMMPfam_zf-B_box,HMMSmart_SM00336 WDR3 10885 genome.wustl.edu 37 1 118482167 118482167 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006784.2 +1 reviewed p.R216M 1.000 687 0.3% 385 25.2% 24 20.8% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 SPAG17 200162 genome.wustl.edu 37 1 118548126 118548126 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_206996.2 -1 validated p.R1563C 0.082 374 0% 283 30.7% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL SPAG17 200162 genome.wustl.edu 37 1 118554967 118554967 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_206996.2 -1 validated p.V1439D 0.019 341 0% 316 29.4% 0 - possibly_damaging(0.945) deleterious(0) deleterious(0.834) NULL SPAG17 200162 genome.wustl.edu 37 1 118693896 118693896 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_206996.2 -1 validated p.R62C 0.971 191 0% 107 30.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TBX15 6913 genome.wustl.edu 37 1 119427470 119427470 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152380.2 -1 reviewed p.S459I 1.000 114 0% 72 29.2% 0 - benign(0.138) deleterious(0.01) neutral(0.417) NULL HSD3B2 3284 genome.wustl.edu 37 1 119964862 119964862 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000198.3 +1 reviewed p.P246 0.000 152 0% 115 29.6% 0 - - - - HMMPfam_3Beta_HSD,superfamily_NAD(P)-binding Rossmann-fold domains PHGDH 26227 genome.wustl.edu 37 1 120254772 120254772 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006623.3 +1 reviewed p.A43S 0.934 60 0% 49 24.5% 114 56.1% benign(0) tolerated(0.62) neutral(0.004) HMMPfam_2-Hacid_dh,superfamily_Formate/glycerate dehydrogenase catalytic domain-like HMGCS2 3158 genome.wustl.edu 37 1 120299898 120299898 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005518.3 -1 reviewed p.F338 1.000 306 0% 191 33% 1 0% - - - HMMPfam_HMG_CoA_synt_C,superfamily_Thiolase-like NOTCH2 4853 genome.wustl.edu 37 1 120480031 120480031 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024408.2 -1 reviewed p.T1132 0.001 215 0.5% 139 23% 9 44.4% - - - HMMPfam_EGF,HMMSmart_EGF,superfamily_SSF57196 NOTCH2 4853 genome.wustl.edu 37 1 120506415 120506415 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024408.2 -1 reviewed p.L566S 0.994 304 0% 249 30.5% 7 57.1% possibly_damaging(0.95) tolerated(0.78) neutral(0.395) HMMSmart_EGF_CA,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_SSF57196 NBPF9 400818 genome.wustl.edu 37 1 144828616 144828616 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001037675.2 +1 predicted p.R639H 0.002 1972 0.1% 2266 12.4% 36 27.7% - - - NULL PDE4DIP 9659 genome.wustl.edu 37 1 144881579 144881579 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014644.4 -1 validated p.A1206V 0.002 201 0% 159 11.9% 5 0% unknown(0) tolerated(0.18) - NULL PDE4DIP 9659 genome.wustl.edu 37 1 144906506 144906506 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014644.4 -1 validated p.A784D 0.998 955 0% 1093 18.3% 81 34.5% benign(0.087) tolerated(0.09) neutral(0.303) NULL PDE4DIP 9659 genome.wustl.edu 37 1 144931009 144931009 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001002811.1 -1 validated p.E234* 1.000 249 0.4% 147 11.6% 38 7.8% - - - NULL HFE2 148738 genome.wustl.edu 37 1 145415436 145415436 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_213653.3 +1 reviewed p.S85 1.000 47 0% 38 10.5% 0 - - - - HMMPfam_RGM_N TXNIP 10628 genome.wustl.edu 37 1 145439008 145439008 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006472.3 +1 validated p.Y69C 1.000 105 1% 110 14.5% 276 20.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Arrestin_N,superfamily_Ig_E-set POLR3GL 84265 genome.wustl.edu 37 1 145456652 145456652 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032305.1 -1 provisional p.D214 1.000 399 0% 499 14.8% 46 21.7% - - - NULL LIX1L 128077 genome.wustl.edu 37 1 145487457 145487457 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153713.1 +1 provisional p.G149V 1.000 175 0% 202 15.3% 12 16.6% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL PEX11B 8799 genome.wustl.edu 37 1 145522769 145522769 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003846.2 +1 validated p.D210 1.000 471 0% 508 15.4% 71 23.9% - - - HMMPfam_PEX11 ITGA10 8515 genome.wustl.edu 37 1 145536910 145536910 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003637.3 +1 reviewed p.T764A 0.995 559 0% 586 15% 1 0% possibly_damaging(0.902) tolerated(0.28) neutral(0.388) HMMPfam_Integrin_alpha2,superfamily_Integrin domains PIAS3 10401 genome.wustl.edu 37 1 145584504 145584504 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006099.3 +1 reviewed p.P491S 1.000 326 0% 284 18% 190 23.1% possibly_damaging(0.489) tolerated(0.06) deleterious(0.485) NULL RNF115 27246 genome.wustl.edu 37 1 145686992 145686992 + Nonsense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014455.2 +1 validated p.C228* 1.000 278 0% 356 18.5% 52 11.5% - - - HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box CD160 11126 genome.wustl.edu 37 1 145698833 145698833 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000369290 -1 known p.Y111H 0.000 44 0% 43 16.3% 0 - possibly_damaging(0.641) - - NULL GPR89A 653519 genome.wustl.edu 37 1 145765405 145765405 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001097612.1 -1 validated p.S375 1.000 1105 0% 1196 14.8% 49 12.2% - - - NULL GPR89A 653519 genome.wustl.edu 37 1 145811997 145811997 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001097612.1 -1 validated p.R71H 1.000 667 0% 719 14.6% 36 25% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PRKAB2 5565 genome.wustl.edu 37 1 146639359 146639359 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005399.3 -1 reviewed p.P104S 1.000 399 0% 323 17.3% 25 8% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL FMO5 2330 genome.wustl.edu 37 1 146661790 146661790 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001461.2 -1 reviewed p.E408* 1.000 841 0% 932 18.3% 7 0% - - - HMMPfam_FMO-like CHD1L 9557 genome.wustl.edu 37 1 146724335 146724335 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004284.3 +1 validated p.H62R 0.864 93 1.1% 83 26.5% 31 25.8% benign(0.001) tolerated(0.72) neutral(0.002) HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases CHD1L 9557 genome.wustl.edu 37 1 146751849 146751849 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004284.3 +1 validated p.D564N 0.218 299 0% 300 14% 98 21.4% benign(0.002) tolerated(0.16) neutral(0.059) NULL BCL9 607 genome.wustl.edu 37 1 147092322 147092322 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004326.2 +1 reviewed p.M787I 1.000 158 0% 146 13% 35 14.2% benign(0) tolerated(0.38) neutral(0.018) NULL BCL9 607 genome.wustl.edu 37 1 147096264 147096264 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004326.2 +1 reviewed p.Q1262R 1.000 163 0% 122 11.5% 39 23% benign(0.056) tolerated(0.15) neutral(0.244) NULL BCL9 607 genome.wustl.edu 37 1 147096704 147096704 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004326.2 +1 reviewed p.V1409M 1.000 90 0% 82 24.4% 36 22.2% benign(0.104) tolerated(0.19) neutral(0.058) NULL GJA8 2703 genome.wustl.edu 37 1 147380742 147380742 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005267.4 +1 reviewed p.N220 0.029 197 0% 147 13.6% 0 - - - - HMMPfam_Connexin_CCC HIST2H3PS2 440686 genome.wustl.edu 37 1 149400154 149400154 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000369176 -1 known p.R130H 1.000 90 0% 81 11.1% 0 - possibly_damaging(0.826) - - HMMSmart_H3,HMMPfam_Histone,superfamily_Histone-fold HIST2H3PS2 440686 genome.wustl.edu 37 1 149400312 149400312 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000369176 -1 known p.Q77 1.000 53 0% 40 30% 1 0% - - - HMMSmart_H3,HMMPfam_Histone,superfamily_Histone-fold FCGR1A 2209 genome.wustl.edu 37 1 149755777 149755777 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000566.3 +1 reviewed p.G91W 0.017 379 0% 340 15% 9 0% benign(0.396) deleterious(0.02) deleterious(0.510) HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin MTMR11 10903 genome.wustl.edu 37 1 149904175 149904175 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181873.3 -1 validated p.R273* 1.000 1066 0.2% 846 17.5% 3 0% - - - superfamily_SSF52799 MTMR11 10903 genome.wustl.edu 37 1 149906171 149906171 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181873.3 -1 validated p.A127V 0.040 385 0% 316 15.8% 5 0% benign(0.013) tolerated(0.52) neutral(0.009) superfamily_SSF52799 OTUD7B 56957 genome.wustl.edu 37 1 149916280 149916280 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020205.2 -1 validated p.D670N 0.990 344 0% 236 19.5% 26 30.7% possibly_damaging(0.661) deleterious(0) deleterious(0.678) NULL ANP32E 81611 genome.wustl.edu 37 1 150193030 150193030 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030920.3 -1 validated p.R257Q 1.000 298 0% 266 18% 158 24.6% unknown(0) tolerated(0.26) - NULL C1orf54 79630 genome.wustl.edu 37 1 150252087 150252087 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024579.3 +1 validated p.R112* 0.971 2077 0.1% 1853 19.9% 11 0% - - - NULL PRPF3 9129 genome.wustl.edu 37 1 150297422 150297422 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004698.2 +1 reviewed p.L8M 1.000 266 0.4% 266 18.4% 23 21.7% possibly_damaging(0.797) deleterious(0.03) deleterious(0.664) HMMPfam_PWI,HMMSmart_SM00311,superfamily_PWI domain RPRD2 23248 genome.wustl.edu 37 1 150444469 150444469 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015203.3 +1 validated p.N1015 0.996 708 0% 615 17.2% 77 22% - - - NULL RPRD2 23248 genome.wustl.edu 37 1 150444622 150444622 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015203.3 +1 validated p.R1066 0.047 332 0.3% 323 14.2% 67 16.4% - - - NULL RPRD2 23248 genome.wustl.edu 37 1 150445792 150445792 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015203.3 +1 validated p.F1456 1.000 193 0% 141 14.2% 93 17.2% - - - NULL TARS2 80222 genome.wustl.edu 37 1 150460483 150460483 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025150.3 +1 provisional p.D72 0.008 192 0% 196 17.9% 44 22.7% - - - HMMPfam_TGS,superfamily_TGS-like TARS2 80222 genome.wustl.edu 37 1 150470083 150470083 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025150.3 +1 provisional p.G366 0.660 264 0% 262 16.8% 52 21.1% - - - HMMPfam_tRNA-synt_2b,superfamily_SSF55681 TARS2 80222 genome.wustl.edu 37 1 150471733 150471733 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025150.3 +1 provisional p.D527E 0.736 814 0% 772 13.5% 98 21.4% benign(0.005) tolerated(1) - superfamily_SSF55681 ECM1 1893 genome.wustl.edu 37 1 150483942 150483942 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004425.3 +1 reviewed p.A240T 0.306 238 0% 210 16.7% 25 0% benign(0.001) tolerated(0.5) neutral(0.010) superfamily_Serum albumin-like,HMMPfam_ECM1 ECM1 1893 genome.wustl.edu 37 1 150485877 150485877 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004425.3 +1 reviewed p.G519 0.001 92 0% 89 16.9% 22 0% - - - HMMPfam_ECM1 ENSA 2029 genome.wustl.edu 37 1 150599922 150599922 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207168.1 -1 reviewed p.Y68 0.000 392 0% 469 14.9% 8 12.5% - - - NULL ENSA 2029 genome.wustl.edu 37 1 150600018 150600018 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207042.1 -1 reviewed p.K36 1.000 210 0% 254 17.7% 303 27% - - - HMMPfam_Endosulfine SETDB1 9869 genome.wustl.edu 37 1 150902450 150902450 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001145415.1 +1 reviewed p.T90A 1.000 451 0% 417 15.6% 37 24.3% benign(0.059) tolerated(0.1) neutral(0.290) NULL SETDB1 9869 genome.wustl.edu 37 1 150936765 150936765 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001145415.1 +1 reviewed p.Y1267 0.464 124 0% 106 17% 117 21.3% - - - HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain CERS2 29956 genome.wustl.edu 37 1 150941529 150941529 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022075.3 -1 reviewed p.R13H 1.000 132 0% 109 21.1% 101 26.7% probably_damaging(0.995) deleterious(0.02) deleterious(0.841) NULL FAM63A 55793 genome.wustl.edu 37 1 150972430 150972430 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018379.4 -1 validated p.A249V 1.000 96 0% 102 15.7% 21 19% benign(0) tolerated(1) - HMMPfam_DUF544 MLLT11 10962 genome.wustl.edu 37 1 151039788 151039788 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006818.3 +1 reviewed p.L30M 1.000 457 0% 456 16.4% 2 100% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL GABPB2 126626 genome.wustl.edu 37 1 151076151 151076151 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144618.2 +1 validated p.A246S 1.000 220 0% 222 18% 19 0% possibly_damaging(0.442) tolerated(0.68) neutral(0.146) NULL GABPB2 126626 genome.wustl.edu 37 1 151089880 151089880 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144618.2 +1 validated p.P312H 1.000 199 0% 224 18.8% 14 28.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SEMA6C 10500 genome.wustl.edu 37 1 151109506 151109506 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030913.4 -1 reviewed p.G267 0.309 86 0% 82 13.4% 1 100% - - - HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain VPS72 6944 genome.wustl.edu 37 1 151149453 151149453 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005997.1 -1 provisional p.P254 0.000 138 0% 140 15% 216 24% - - - NULL PIP5K1A 8394 genome.wustl.edu 37 1 151196742 151196742 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001135638.1 +1 validated p.P36H 0.002 656 0.3% 602 14.8% 37 29.7% benign(0.397) deleterious(0.03) deleterious(0.492) NULL PIP5K1A 8394 genome.wustl.edu 37 1 151205142 151205142 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001135638.1 +1 validated p.A201V 1.000 168 0% 183 17.5% 79 27.8% probably_damaging(0.999) tolerated(0.27) deleterious(0.524) HMMPfam_PIP5K,HMMSmart_SM00330,superfamily_SAICAR synthase-like PSMD4 5710 genome.wustl.edu 37 1 151237347 151237347 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002810.2 +1 reviewed p.R108C 1.000 134 0% 131 11.5% 401 20.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00327,superfamily_vWA-like ZNF687 57592 genome.wustl.edu 37 1 151258974 151258974 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020832.1 +1 provisional p.A69 1.000 127 0% 120 20% 27 11.1% - - - NULL ZNF687 57592 genome.wustl.edu 37 1 151259343 151259343 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020832.1 +1 provisional p.P192 0.876 141 0% 112 17.9% 42 16.6% - - - NULL RFX5 5993 genome.wustl.edu 37 1 151315507 151315507 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000449.3 -1 reviewed p.A336T 1.000 102 0% 84 26.2% 48 18.7% benign(0) tolerated(0.09) neutral(0.296) NULL SELENBP1 8991 genome.wustl.edu 37 1 151338767 151338767 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003944.2 -1 reviewed p.R276H 1.000 208 0% 188 17% 210 26.1% benign(0.042) tolerated(0.69) neutral(0.005) HMMPfam_SBP56,superfamily_Cyt_cd1_haem_C POGZ 23126 genome.wustl.edu 37 1 151384785 151384785 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015100.2 -1 reviewed p.P589H 1.000 270 0% 260 15% 37 21.6% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_C2H2 and C2HC zinc fingers POGZ 23126 genome.wustl.edu 37 1 151395897 151395897 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015100.2 -1 reviewed p.V552I 1.000 317 0% 343 11.7% 28 10.7% probably_damaging(0.987) deleterious(0.05) deleterious(0.782) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 POGZ 23126 genome.wustl.edu 37 1 151396426 151396426 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015100.2 -1 reviewed p.R508* 1.000 296 0% 309 15.5% 42 7.1% - - - PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers POGZ 23126 genome.wustl.edu 37 1 151400425 151400425 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015100.2 -1 reviewed p.A318T 1.000 122 0.8% 135 12.6% 23 21.7% possibly_damaging(0.903) deleterious(0.04) deleterious(0.707) NULL CGN 57530 genome.wustl.edu 37 1 151508127 151508127 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020770.2 +1 validated p.L1016M 1.000 137 0.7% 151 17.2% 30 26.6% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_Myosin_tail_1 SNX27 81609 genome.wustl.edu 37 1 151665017 151665017 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030918.5 +1 reviewed p.T449M 1.000 315 0% 293 14.3% 15 26.6% benign(0.053) tolerated(0.09) neutral(0.300) NULL MRPL9 65005 genome.wustl.edu 37 1 151733313 151733313 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031420.2 -1 reviewed p.G217 0.997 352 0% 432 15.7% 165 0.6% - - - NULL OAZ3 51686 genome.wustl.edu 37 1 151739680 151739680 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016178.2 +1 reviewed p.R70H 0.967 180 0% 163 14.1% 19 10.5% benign(0.001) tolerated(0.26) neutral(0.034) HMMPfam_ODC_AZ TDRKH 11022 genome.wustl.edu 37 1 151752566 151752566 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001083963.1 -1 validated p.G94 0.714 396 0% 356 16.9% 9 22.2% - - - HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) RORC 6097 genome.wustl.edu 37 1 151780017 151780017 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005060.3 -1 reviewed p.A496 0.004 148 0% 89 16.9% 87 21.8% - - - HMMPfam_Hormone_recep,superfamily_Nuclear receptor ligand-binding domain THEM4 117145 genome.wustl.edu 37 1 151849561 151849561 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_053055.3 -1 reviewed p.L200F 0.852 489 0% 581 17.6% 27 11.1% probably_damaging(0.957) deleterious(0.03) deleterious(0.765) HMMPfam_4HBT,superfamily_SSF54637 S100A11 6282 genome.wustl.edu 37 1 152006206 152006206 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005620.1 -1 reviewed p.A25V 0.984 223 0% 199 15.6% 1012 19.7% possibly_damaging(0.81) deleterious(0) deleterious(0.750) HMMPfam_S_100,superfamily_SSF47473 TCHHL1 126637 genome.wustl.edu 37 1 152058246 152058246 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001008536.1 -1 provisional p.P638T 0.301 569 0% 550 18.2% 0 - benign(0) tolerated(0.8) neutral(0.001) NULL TCHH 7062 genome.wustl.edu 37 1 152080007 152080007 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007113.2 -1 provisional p.R1896C 0.001 800 0% 651 21% 1 0% probably_damaging(1) - - NULL TCHH 7062 genome.wustl.edu 37 1 152080282 152080282 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007113.2 -1 provisional p.R1804H 0.000 640 0.2% 609 17.2% 0 - probably_damaging(0.999) - - NULL RPTN 126638 genome.wustl.edu 37 1 152130311 152130311 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001122965.1 -1 validated p.A19T 0.119 363 0% 440 15.5% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_S_100,superfamily_EF-hand HRNR 388697 genome.wustl.edu 37 1 152188994 152188994 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001009931.1 -1 validated p.R1704Q 0.000 258 4.7% 175 6.3% 0 - unknown(0) - - NULL HRNR 388697 genome.wustl.edu 37 1 152191525 152191525 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001009931.1 -1 validated p.S860 0.000 121 0% 89 16.9% 0 - - - - NULL HRNR 388697 genome.wustl.edu 37 1 152191918 152191918 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001009931.1 -1 validated p.H729 0.000 202 0% 163 20.2% 0 - - - - NULL HRNR 388697 genome.wustl.edu 37 1 152193097 152193097 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001009931.1 -1 validated p.G336 0.000 129 0% 77 15.6% 0 - - - - NULL FLG 2312 genome.wustl.edu 37 1 152276387 152276387 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002016.1 -1 reviewed p.S3659T 0.000 880 0% 795 17.9% 0 - possibly_damaging(0.752) tolerated(0.48) neutral(0.287) HMMPfam_Filaggrin FLG 2312 genome.wustl.edu 37 1 152276606 152276606 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002016.1 -1 reviewed p.A3586T 0.000 742 0.1% 712 15.3% 0 - benign(0.059) tolerated(0.51) neutral(0.013) NULL FLG 2312 genome.wustl.edu 37 1 152277195 152277195 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000271820 -1 known e6-1 0.000 651 0.2% 628 15.6% 1 0% unknown(0) deleterious(0.03) - - FLG 2312 genome.wustl.edu 37 1 152280161 152280161 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002016.1 -1 reviewed p.R2401C 0.000 511 0% 441 16.8% 1 0% unknown(0) tolerated(0.09) - NULL FLG2 388698 genome.wustl.edu 37 1 152326899 152326899 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001014342.2 -1 provisional p.G1121 0.014 844 0.1% 871 17.8% 0 - - - - NULL FLG2 388698 genome.wustl.edu 37 1 152329719 152329719 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001014342.2 -1 provisional p.Y181 0.000 350 0% 360 10.8% 0 - - - - NULL CRNN 49860 genome.wustl.edu 37 1 152382565 152382565 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016190.2 -1 reviewed p.H331 0.000 640 0.3% 692 19.5% 0 - - - - NULL LCE2B 26239 genome.wustl.edu 37 1 152659569 152659569 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014357.4 +1 reviewed p.R84C 0.000 220 0% 214 22% 0 - unknown(0) - - NULL LCE2A 353139 genome.wustl.edu 37 1 152671534 152671534 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178428.3 +1 validated p.G53S 0.677 211 0% 224 15.6% 0 - unknown(0) - - NULL KPRP 448834 genome.wustl.edu 37 1 152732100 152732100 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001025231.1 +1 provisional p.P12 0.000 326 0% 309 18.4% 0 - - - - NULL LCE1B 353132 genome.wustl.edu 37 1 152784995 152784995 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178349.1 +1 validated p.L25I 0.776 485 0% 474 16.7% 0 - unknown(0) - - NULL LCE1A 353131 genome.wustl.edu 37 1 152800215 152800215 + Silent SNP C C T rs112149679 TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178348.1 +1 validated p.S89 0.996 68 0% 56 19.6% 0 - - - - NULL SMCP 4184 genome.wustl.edu 37 1 152857216 152857216 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030663.2 +1 reviewed p.H106 0.000 437 0% 358 14% 0 - - - - NULL IVL 3713 genome.wustl.edu 37 1 152882470 152882470 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005547.2 +1 reviewed p.A66D 0.000 247 0% 221 21.3% 0 - unknown(0) deleterious(0.04) - HMMPfam_Involucrin_N IVL 3713 genome.wustl.edu 37 1 152883771 152883771 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005547.2 +1 reviewed p.P500S 0.000 57 0% 57 19.3% 0 - probably_damaging(0.989) deleterious(0.04) deleterious(0.788) HMMPfam_Involucrin S100A2 6273 genome.wustl.edu 37 1 153536262 153536262 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005978.3 -1 reviewed p.S30I 0.930 123 0% 86 17.4% 4 25% probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_S_100,superfamily_EF-hand S100A14 57402 genome.wustl.edu 37 1 153587768 153587768 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020672.1 -1 provisional p.T40 0.580 16 0% 23 21.7% 1 0% - - - HMMPfam_S_100,superfamily_SSF47473 S100A13 6284 genome.wustl.edu 37 1 153591411 153591411 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001024210.1 -1 reviewed p.E86G 0.997 154 0.6% 181 13.3% 120 16.6% unknown(0) tolerated(0.1) - superfamily_SSF47473 CHTOP 26097 genome.wustl.edu 37 1 153614724 153614724 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015607.2 +1 provisional p.S74R 1.000 100 0% 81 19.8% 87 13.7% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL CHTOP 26097 genome.wustl.edu 37 1 153615726 153615726 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015607.2 +1 provisional p.R143* 1.000 232 0% 185 15.1% 67 2.9% - - - NULL CHTOP 26097 genome.wustl.edu 37 1 153617695 153617695 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015607.2 +1 provisional p.A233T 1.000 146 0% 108 18.5% 157 5% unknown(0) deleterious(0) - NULL NPR1 4881 genome.wustl.edu 37 1 153659534 153659534 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000906.3 +1 validated p.R636W 1.000 359 0.3% 369 17.3% 2 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase NPR1 4881 genome.wustl.edu 37 1 153660639 153660639 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000906.3 +1 validated p.D787Y 1.000 174 0% 178 12.9% 3 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase INTS3 65123 genome.wustl.edu 37 1 153735804 153735804 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_023015.3 +1 validated p.L578M 0.997 381 0% 336 15.2% 39 15.3% benign(0.002) tolerated(0.11) neutral(0.272) NULL INTS3 65123 genome.wustl.edu 37 1 153744851 153744851 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_023015.3 +1 validated p.T919I 1.000 90 0% 68 13.2% 107 9.3% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL SLC27A3 11000 genome.wustl.edu 37 1 153749127 153749127 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000458027 +1 known p.G19V 0.656 106 0% 87 14.9% 25 32% - - - superfamily_Acetyl-CoA synthetase-like GATAD2B 57459 genome.wustl.edu 37 1 153782718 153782718 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020699.2 -1 validated p.R573C 1.000 309 0.3% 288 14.9% 47 17% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DENND4B 9909 genome.wustl.edu 37 1 153907377 153907377 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014856.2 -1 validated p.R878W 1.000 136 0.7% 91 13.2% 22 13.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DENND4B 9909 genome.wustl.edu 37 1 153914693 153914693 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014856.2 -1 validated p.T260 1.000 64 0% 29 17.2% 17 11.7% - - - HMMPfam_uDENN,HMMSmart_uDENN CRTC2 200186 genome.wustl.edu 37 1 153925108 153925108 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181715.1 -1 provisional p.P214L 1.000 969 0% 898 17% 102 20.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL CRTC2 200186 genome.wustl.edu 37 1 153926080 153926080 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181715.1 -1 provisional p.T146M 0.993 84 0% 69 34.8% 69 20.2% probably_damaging(0.998) tolerated(0.11) deleterious(0.746) NULL CRTC2 200186 genome.wustl.edu 37 1 153927552 153927552 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181715.1 -1 provisional p.A82T 0.978 236 0% 213 20.7% 82 18.2% benign(0.156) tolerated(0.79) neutral(0.015) NULL NUP210L 91181 genome.wustl.edu 37 1 153965503 153965503 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207308.2 -1 validated p.T1852A 0.007 215 0% 153 13.1% 0 - unknown(0) tolerated(0.4) - NULL NUP210L 91181 genome.wustl.edu 37 1 153994676 153994676 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207308.2 -1 validated p.A1481D 1.000 223 0% 185 17.8% 2 0% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL NUP210L 91181 genome.wustl.edu 37 1 154067514 154067514 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207308.2 -1 validated p.A695V 0.000 97 0% 78 19.2% 0 - benign(0) tolerated(1) - NULL UBAP2L 9898 genome.wustl.edu 37 1 154233486 154233486 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000433615 +1 known p.P230S 1.000 172 0% 153 18.3% 561 21.3% - - - NULL UBAP2L 9898 genome.wustl.edu 37 1 154241364 154241364 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000433615 +1 known p.H365Y 1.000 779 0% 780 15.5% 308 17.5% - - - NULL HAX1 10456 genome.wustl.edu 37 1 154245948 154245948 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006118.3 +1 reviewed p.G64S 0.890 157 0% 142 17.6% 221 16.7% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL AQP10 89872 genome.wustl.edu 37 1 154295506 154295506 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080429.2 +1 reviewed p.R94H 0.938 112 0.9% 93 25.8% 0 - benign(0.097) deleterious(0.05) neutral(0.353) HMMPfam_MIP,superfamily_Aquaporin-like SHE 126669 genome.wustl.edu 37 1 154458465 154458465 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001010846.2 -1 validated p.V419I 1.000 110 0% 87 21.8% 1 0% possibly_damaging(0.877) deleterious(0.04) deleterious(0.691) HMMPfam_SH2,HMMSmart_SH2,superfamily_SSF55550 UBE2Q1 55585 genome.wustl.edu 37 1 154523450 154523450 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017582.6 -1 reviewed p.S401P 1.000 496 0% 420 13.8% 208 22.5% probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like CHRNB2 1141 genome.wustl.edu 37 1 154543838 154543838 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000748.2 +1 reviewed p.R180H 1.000 96 1% 90 13.3% 0 - benign(0.031) tolerated(0.11) neutral(0.273) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like CHRNB2 1141 genome.wustl.edu 37 1 154543953 154543953 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000748.2 +1 reviewed p.D218E 1.000 89 0% 73 13.7% 0 - probably_damaging(0.987) tolerated(0.92) neutral(0.436) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like ADAR 103 genome.wustl.edu 37 1 154562270 154562270 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001111.3 -1 reviewed p.D877 0.114 121 0% 92 15.2% 131 31.2% - - - HMMSmart_SM00552 ADAR 103 genome.wustl.edu 37 1 154574229 154574229 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001111.3 -1 reviewed p.A297T 1.000 463 0% 418 19.1% 115 24.3% probably_damaging(0.96) deleterious(0) deleterious(0.848) "HMMPfam_z-alpha,HMMSmart_SM00550,superfamily_""Winged helix"" DNA-binding domain" PBXIP1 57326 genome.wustl.edu 37 1 154919850 154919850 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000368460 -1 known p.G274C 0.000 92 0% 48 22.9% 0 - unknown(0) - - NULL FLAD1 80308 genome.wustl.edu 37 1 154961034 154961034 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025207.4 +1 reviewed p.A276T 0.996 102 0% 111 26.1% 172 20.9% benign(0.085) tolerated(0.57) neutral(0.012) superfamily_Molybdenum cofactor biosynthesis proteins ZBTB7B 51043 genome.wustl.edu 37 1 154987481 154987481 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015872.2 +1 validated p.S115 1.000 97 0% 102 18.6% 111 20.7% - - - HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB ZBTB7B 51043 genome.wustl.edu 37 1 154987592 154987592 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015872.2 +1 validated p.D152 0.871 101 1% 72 20.8% 88 18.1% - - - NULL DCST2 127579 genome.wustl.edu 37 1 155002981 155002981 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144622.2 -1 validated p.L316M 0.997 49 0% 58 12.1% 1 0% benign(0.405) tolerated(0.16) neutral(0.190) NULL ADAM15 8751 genome.wustl.edu 37 1 155026793 155026793 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207197.1 +1 reviewed p.G141 0.631 311 0% 255 17.6% 129 22.4% - - - HMMPfam_Pep_M12B_propep ADAM15 8751 genome.wustl.edu 37 1 155029752 155029752 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207197.1 +1 reviewed p.R413W 0.005 145 0% 93 26.9% 229 18.3% benign(0.004) tolerated(0.06) neutral(0.323) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ADAM15 8751 genome.wustl.edu 37 1 155030122 155030122 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207197.1 +1 reviewed p.D445N 0.992 124 0% 84 15.5% 254 20.4% probably_damaging(1) tolerated(1) deleterious(0.500) HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin) EFNA4 1945 genome.wustl.edu 37 1 155041628 155041628 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182689.1 +1 reviewed p.A201 0.000 66 0% 57 19.3% 57 17.5% - - - NULL EFNA3 1944 genome.wustl.edu 37 1 155058969 155058969 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004952.4 +1 reviewed p.P223S 1.000 99 0% 90 18.9% 8 0% benign(0.312) tolerated(0.49) neutral(0.108) NULL LOC648822 648822 genome.wustl.edu 37 1 155121374 155121374 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_001718420.1 +1 model p.A137T 1.000 197 0% 171 19.3% 0 - - - - NULL TRIM46 80128 genome.wustl.edu 37 1 155148067 155148067 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025058.3 +1 validated p.R90L 1.000 108 0.9% 112 15.2% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMSmart_SM00184,superfamily_RING/U-box MTX1 4580 genome.wustl.edu 37 1 155182561 155182561 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002455.3 +1 validated p.A344V 1.000 43 0% 40 15% 90 14.4% benign(0.031) tolerated(0.12) neutral(0.262) superfamily_Glutathione S-transferase (GST) C-terminal domain,HMMPfam_Tom37 FAM189B 10712 genome.wustl.edu 37 1 155224225 155224225 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006589.2 -1 validated p.G83D 1.000 194 0% 118 15.3% 34 29.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SCAMP3 10067 genome.wustl.edu 37 1 155226202 155226202 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005698.2 -1 reviewed p.S302 1.000 322 0% 223 11.2% 274 26.2% - - - HMMPfam_SCAMP CLK2 1196 genome.wustl.edu 37 1 155238119 155238119 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003993.2 -1 reviewed p.T172 1.000 195 0% 156 14.1% 61 11.4% - - - HMMSmart_S_TKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase CLK2 1196 genome.wustl.edu 37 1 155239489 155239489 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003993.2 -1 reviewed p.S63 0.000 353 0% 337 16.9% 59 16.9% - - - NULL HCN3 57657 genome.wustl.edu 37 1 155255587 155255587 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020897.1 +1 validated p.V437I 1.000 103 0% 85 16.5% 4 50% benign(0.122) tolerated(0.26) neutral(0.044) HMMSmart_cNMP,superfamily_cNMP_binding RUSC1-AS1 284618 genome.wustl.edu 37 1 155291065 155291065 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001039517.1 -1 predicted p.T72M 0.000 60 0% 62 22.6% 0 - - - - NULL ASH1L 55870 genome.wustl.edu 37 1 155309120 155309120 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018489.2 -1 reviewed p.R2834* 0.985 192 0% 208 36.5% 43 30.2% - - - NULL ASH1L 55870 genome.wustl.edu 37 1 155408653 155408653 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018489.2 -1 reviewed p.L1765I 1.000 305 0% 264 17.8% 13 15.3% possibly_damaging(0.647) deleterious(0) deleterious(0.671) NULL ASH1L 55870 genome.wustl.edu 37 1 155448164 155448164 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018489.2 -1 reviewed p.Q1499 1.000 210 0% 240 11.7% 31 38.7% - - - NULL ASH1L 55870 genome.wustl.edu 37 1 155450123 155450123 + Silent SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018489.2 -1 reviewed p.T846 1.000 607 0% 745 17.7% 10 50% - - - NULL DAP3 7818 genome.wustl.edu 37 1 155695174 155695174 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004632.2 +1 reviewed p.V91A 1.000 199 0% 230 10.9% 220 19% benign(0.031) tolerated(0.22) neutral(0.044) NULL SYT11 23208 genome.wustl.edu 37 1 155851027 155851027 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152280.4 +1 reviewed p.R342C 1.000 739 0% 659 18.2% 7 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB RIT1 6016 genome.wustl.edu 37 1 155880292 155880292 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006912.4 -1 validated p.T38A 1.000 347 0% 360 20.3% 44 40.9% benign(0.253) deleterious(0) deleterious(0.471) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases KIAA0907 22889 genome.wustl.edu 37 1 155886422 155886423 + Frame_Shift_Del DEL CT CT - novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014949.2 -1 predicted p.R516fs 1.000:1.000 - - - - - - - - - NULL KIAA0907 22889 genome.wustl.edu 37 1 155899533 155899533 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014949.2 -1 predicted p.N118 1.000 198 0% 225 17.3% 39 12.8% - - - superfamily_Eukaryotic type KH-domain (KH-domain type I) RXFP4 339403 genome.wustl.edu 37 1 155911856 155911856 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181885.2 +1 validated p.T119M 0.989 77 0% 61 24.6% 0 - possibly_damaging(0.921) tolerated(0.24) neutral(0.408) HMMPfam_7tm_1,superfamily_SSF81321 UBQLN4 56893 genome.wustl.edu 37 1 156018388 156018388 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020131.3 -1 provisional p.A268 1.000 125 0% 95 18.9% 93 13.9% - - - NULL MEX3A 92312 genome.wustl.edu 37 1 156046752 156046752 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001093725.1 -1 validated p.W392C 1.000 53 0% 41 14.6% 19 15.7% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL MEX3A 92312 genome.wustl.edu 37 1 156047380 156047380 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001093725.1 -1 validated p.R183Q 1.000 58 0% 52 17.3% 31 19.3% probably_damaging(0.986) deleterious(0.01) deleterious(0.840) HMMSmart_KH,HMMPfam_KH_1,superfamily_SSF54791 SEMA4A 64218 genome.wustl.edu 37 1 156146323 156146323 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022367.2 +1 provisional p.N607 0.994 338 0.3% 290 17.2% 14 7.1% - - - NULL SMG5 23381 genome.wustl.edu 37 1 156230266 156230266 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015327.2 -1 validated p.R753 0.998 172 0% 179 13.4% 88 20.4% - - - NULL SMG5 23381 genome.wustl.edu 37 1 156238160 156238160 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015327.2 -1 validated p.R254W 1.000 942 0.1% 953 21.8% 99 15.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TMEM79 84283 genome.wustl.edu 37 1 156255201 156255201 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032323.2 +1 validated p.A62T 0.000 50 0% 59 20.3% 9 11.1% benign(0) tolerated(0.54) neutral(0.007) NULL TMEM79 84283 genome.wustl.edu 37 1 156256137 156256137 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032323.2 +1 validated p.R282* 0.873 90 0% 63 12.7% 17 29.4% - - - NULL TMEM79 84283 genome.wustl.edu 37 1 156256151 156256151 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032323.2 +1 validated p.Q286H 1.000 93 0% 86 18.6% 17 11.7% probably_damaging(0.995) tolerated(0.07) deleterious(0.776) NULL VHLL 391104 genome.wustl.edu 37 1 156268826 156268826 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004319.2 -1 reviewed p.E52G 0.000 96 0% 82 19.5% 1 0% - - - HMMPfam_VHL,superfamily_SSF49468 CCT3 7203 genome.wustl.edu 37 1 156288736 156288736 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005998.3 -1 reviewed p.R228C 0.813 134 0% 123 21.1% 835 22.1% probably_damaging(0.956) deleterious(0) deleterious(0.844) HMMPfam_Cpn60_TCP1,superfamily_GroEL-ATPase,superfamily_SSF52029,superfamily_SSF54849 RHBG 57127 genome.wustl.edu 37 1 156339044 156339044 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020407.3 +1 reviewed p.A2T 1.000 28 0% 24 29.2% 0 - possibly_damaging(0.842) deleterious(0.01) deleterious(0.728) NULL RHBG 57127 genome.wustl.edu 37 1 156347885 156347885 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020407.3 +1 reviewed p.V160A 1.000 76 0% 65 15.4% 0 - benign(0.041) deleterious(0.03) neutral(0.367) HMMPfam_Ammonium_transp,superfamily_Ammonium ransporter (Pfam 00909) MEF2D 4209 genome.wustl.edu 37 1 156437994 156437994 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005920.2 -1 provisional p.R449C 1.000 67 0% 46 13% 51 3.9% probably_damaging(1) deleterious(0) deleterious(0.945) NULL IQGAP3 128239 genome.wustl.edu 37 1 156497763 156497763 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178229.4 -1 validated p.R1588Q 0.013 214 0% 162 13% 22 22.7% benign(0.032) tolerated(0.1) neutral(0.288) NULL IQGAP3 128239 genome.wustl.edu 37 1 156502847 156502847 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178229.4 -1 validated p.S1343Y 1.000 295 0% 292 15.8% 20 40% possibly_damaging(0.944) tolerated(0.06) deleterious(0.711) NULL IQGAP3 128239 genome.wustl.edu 37 1 156517979 156517979 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178229.4 -1 validated p.N730 0.142 138 0% 121 24.8% 5 0% - - - HMMSmart_IQ IQGAP3 128239 genome.wustl.edu 37 1 156521851 156521851 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178229.4 -1 validated p.R495 0.000 233 0.4% 195 19% 8 37.5% - - - NULL TTC24 164118 genome.wustl.edu 37 1 156552138 156552138 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000340086 +1 known p.Q47R 0.132 40 0% 33 12.1% 0 - - - - HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like GPATCH4 54865 genome.wustl.edu 37 1 156565880 156565880 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015590.2 -1 validated p.A162S 1.000 175 0% 119 15.1% 70 25.7% probably_damaging(0.975) deleterious(0.01) deleterious(0.823) NULL BCAN 63827 genome.wustl.edu 37 1 156615902 156615902 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021948.3 +1 validated p.A19V 0.001 35 0% 37 13.5% 0 - unknown(0) tolerated(1) - NULL BCAN 63827 genome.wustl.edu 37 1 156618627 156618627 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021948.3 +1 validated p.S346I 1.000 343 0.3% 311 13.5% 0 - probably_damaging(0.98) deleterious(0.01) deleterious(0.830) HMMPfam_Xlink,HMMSmart_SM00445,superfamily_C-type lectin-like NES 10763 genome.wustl.edu 37 1 156639119 156639119 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006617.1 -1 reviewed p.D1621N 0.871 141 0% 140 17.9% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NES 10763 genome.wustl.edu 37 1 156640101 156640101 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006617.1 -1 reviewed p.E1293D 0.862 178 0% 155 21.3% 13 0% probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL NES 10763 genome.wustl.edu 37 1 156640737 156640737 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006617.1 -1 reviewed p.E1081D 0.002 77 0% 49 18.4% 2 0% possibly_damaging(0.737) deleterious(0) deleterious(0.714) NULL NES 10763 genome.wustl.edu 37 1 156641680 156641680 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006617.1 -1 reviewed p.R767M 0.000 117 0% 82 15.9% 7 0% possibly_damaging(0.852) deleterious(0.01) deleterious(0.733) NULL RRNAD1 51093 genome.wustl.edu 37 1 156703837 156703837 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015997.3 +1 validated p.V225M 0.887 130 0% 117 17.1% 39 30.7% probably_damaging(0.995) deleterious(0.03) deleterious(0.822) NULL MRPL24 79590 genome.wustl.edu 37 1 156708492 156708492 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024540.3 -1 reviewed p.R2H 1.000 122 0% 110 17.3% 222 27% probably_damaging(1) deleterious(0) deleterious(0.945) NULL HDGF 3068 genome.wustl.edu 37 1 156713986 156713986 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001126050.1 -1 reviewed p.A169V 0.402 438 0.2% 351 21.1% 539 25.2% benign(0.077) tolerated(0.2) neutral(0.054) NULL INSRR 3645 genome.wustl.edu 37 1 156810698 156810698 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014215.1 -1 validated p.D1287 0.998 14 0% 18 22.2% 0 - - - - NULL INSRR 3645 genome.wustl.edu 37 1 156811200 156811200 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014215.1 -1 validated p.G1216 0.996 111 0% 79 24.1% 0 - - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like INSRR 3645 genome.wustl.edu 37 1 156819237 156819237 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014215.1 -1 validated p.Y415 0.725 55 0% 25 28% 0 - - - - HMMPfam_Recep_L_domain,superfamily_SSF52058 PEAR1 375033 genome.wustl.edu 37 1 156876430 156876430 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080471.1 +1 provisional p.E134D 0.000 79 1.3% 62 19.4% 0 - benign(0.032) tolerated(0.54) neutral(0.009) PatternScan_EGF_2 PEAR1 375033 genome.wustl.edu 37 1 156879655 156879655 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080471.1 +1 provisional p.A508 1.000 75 0% 57 24.6% 0 - - - - HMMSmart_EGF PEAR1 375033 genome.wustl.edu 37 1 156880108 156880108 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080471.1 +1 provisional p.T587 1.000 224 0% 217 10.6% 2 0% - - - HMMSmart_EGF,HMMPfam_EGF_2 LRRC71 149499 genome.wustl.edu 37 1 156897359 156897359 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144702.2 +1 validated p.S245F 1.000 47 0% 44 27.3% 5 60% probably_damaging(0.999) tolerated(0.12) deleterious(0.751) HMMSmart_SM00368,superfamily_RNI-like ARHGEF11 9826 genome.wustl.edu 37 1 156910053 156910053 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198236.1 -1 reviewed p.A1227T 0.997 104 0% 91 24.2% 43 25.5% benign(0.021) deleterious(0) neutral(0.446) NULL ARHGEF11 9826 genome.wustl.edu 37 1 156914914 156914914 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198236.1 -1 reviewed p.A963V 0.998 88 0% 53 13.2% 41 24.3% benign(0.291) tolerated(0.05) neutral(0.435) superfamily_DH-domain ARHGEF11 9826 genome.wustl.edu 37 1 156921459 156921459 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198236.1 -1 reviewed p.H611Y 1.000 189 0% 130 16.9% 34 29.4% probably_damaging(0.983) tolerated(0.1) deleterious(0.716) NULL ARHGEF11 9826 genome.wustl.edu 37 1 156931470 156931470 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198236.1 -1 reviewed p.A413V 1.000 203 0% 202 11.4% 29 17.2% probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMSmart_RGS,HMMPfam_RGS-like,superfamily_Regulat_G_prot_signal_superfam FCRL5 83416 genome.wustl.edu 37 1 157490975 157490975 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031281.2 -1 validated p.L783M 0.990 107 0% 111 18.9% 1 0% possibly_damaging(0.906) tolerated(0.12) deleterious(0.620) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin FCRL4 83417 genome.wustl.edu 37 1 157559120 157559120 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031282.2 -1 reviewed p.H61Y 0.000 211 0% 252 16.3% 0 - benign(0) tolerated(1) - HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin FCRL2 79368 genome.wustl.edu 37 1 157746857 157746857 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030764.3 -1 reviewed p.L3 0.787 355 0% 350 19.4% 0 - - - - NULL FCRL1 115350 genome.wustl.edu 37 1 157773733 157773733 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052938.4 -1 reviewed p.A74V 0.002 245 0% 263 16.3% 0 - benign(0.221) tolerated(0.08) neutral(0.322) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin FCRL1 115350 genome.wustl.edu 37 1 157773883 157773883 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052938.4 -1 reviewed p.S24I 0.002 252 0% 267 19.5% 0 - probably_damaging(0.991) tolerated(0.19) deleterious(0.493) HMMSmart_SM00409,superfamily_Immunoglobulin LOC729866 729866 genome.wustl.edu 37 1 157894919 157894919 + RNA SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XR_078238.1 -1 model NULL 0.000 59 0% 55 14.5% 0 - - - - - LOC729866 729866 genome.wustl.edu 37 1 157894988 157894988 + RNA SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XR_078238.1 -1 model NULL 0.000 77 0% 78 24.4% 0 - - - - - KIRREL 55243 genome.wustl.edu 37 1 158057567 158057567 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018240.5 +1 validated p.S228 1.000 95 0% 100 14% 3 0% - - - HMMPfam_I-set,superfamily_Immunoglobulin KIRREL 55243 genome.wustl.edu 37 1 158063423 158063423 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018240.5 +1 validated p.D530 0.876 64 0% 62 19.4% 8 50% - - - NULL KIRREL 55243 genome.wustl.edu 37 1 158064863 158064863 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018240.5 +1 validated p.S743P 1.000 44 0% 30 16.7% 3 0% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL CD1D 912 genome.wustl.edu 37 1 158151947 158151947 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001766.3 +1 reviewed p.T152A 0.000 604 0% 504 17.9% 1 0% benign(0) tolerated(0.89) - HMMPfam_MHC_I,superfamily_MHC_I/II-like_Ag-recog CD1A 909 genome.wustl.edu 37 1 158224912 158224912 + Missense_Mutation SNP G G A rs140904380 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001763.2 +1 reviewed p.A33T 0.000 604 0.2% 601 15.3% 0 - benign(0) tolerated(0.13) neutral(0.253) HMMPfam_MHC_I,superfamily_MHC_I/II-like_Ag-recog CD1E 913 genome.wustl.edu 37 1 158324210 158324210 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030893.2 +1 reviewed p.Q34 0.000 485 0.2% 500 19% 0 - - - - superfamily_MHC antigen-recognition domain OR10Z1 128368 genome.wustl.edu 37 1 158576749 158576749 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004478.1 +1 provisional p.I174T 0.994 490 0% 652 20.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 SPTA1 6708 genome.wustl.edu 37 1 158582745 158582745 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003126.2 -1 reviewed p.G2332 0.416 258 0% 308 14.6% 0 - - - - superfamily_EF-hand SPTA1 6708 genome.wustl.edu 37 1 158585176 158585176 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003126.2 -1 reviewed p.I2206 0.996 496 0% 593 19.9% 0 - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTA1 6708 genome.wustl.edu 37 1 158612230 158612230 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003126.2 -1 reviewed p.A1570T 0.971 379 0% 551 16.2% 0 - benign(0.114) tolerated(0.5) neutral(0.019) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTA1 6708 genome.wustl.edu 37 1 158614187 158614187 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003126.2 -1 reviewed e30-1 1.000 262 0% 358 15.1% 0 - - - - - SPTA1 6708 genome.wustl.edu 37 1 158624467 158624467 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003126.2 -1 reviewed p.A990 1.000 134 0% 185 15.1% 0 - - - - HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMSmart_SM00150 SPTA1 6708 genome.wustl.edu 37 1 158626363 158626363 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003126.2 -1 reviewed p.N963 0.995 358 0% 340 18.2% 0 - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTA1 6708 genome.wustl.edu 37 1 158636122 158636122 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003126.2 -1 reviewed p.A735D 0.004 106 0% 101 14.9% 0 - benign(0) tolerated(1) - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTA1 6708 genome.wustl.edu 37 1 158655064 158655064 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003126.2 -1 reviewed p.T33I 0.104 321 0% 536 17.2% 0 - benign(0.057) tolerated(0.09) neutral(0.300) HMMPfam_Spectrin,superfamily_Spectrin repeat SPTA1 6708 genome.wustl.edu 37 1 158656284 158656284 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003126.2 -1 reviewed p.T8 0.448 136 0% 200 16% 0 - - - - superfamily_Spectrin repeat OR6K3 391114 genome.wustl.edu 37 1 158687275 158687275 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005327.2 -1 validated p.L227I 0.003 473 0.4% 724 15.7% 0 - possibly_damaging(0.803) tolerated(0.14) deleterious(0.552) HMMPfam_7tm_1,superfamily_SSF81321 OR6K6 128371 genome.wustl.edu 37 1 158724885 158724885 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005184.1 +1 provisional p.L94I 0.905 518 0.2% 495 13.1% 0 - probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR6K6 128371 genome.wustl.edu 37 1 158725212 158725212 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005184.1 +1 provisional p.H203N 0.250 207 0% 193 14% 0 - benign(0.016) tolerated(0.72) neutral(0.002) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR6K6 128371 genome.wustl.edu 37 1 158725461 158725461 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005184.1 +1 provisional p.Y286H 1.000 243 0% 214 15.9% 0 - probably_damaging(0.972) deleterious(0) deleterious(0.859) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR6N1 128372 genome.wustl.edu 37 1 158736019 158736019 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005185.1 -1 provisional p.G152C 0.663 241 0% 306 15.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 IFI16 3428 genome.wustl.edu 37 1 159015102 159015102 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005531.2 +1 reviewed p.I449L 0.000 507 0% 559 12.3% 50 2% benign(0.002) tolerated(0.8) neutral(0.001) NULL IFI16 3428 genome.wustl.edu 37 1 159019388 159019388 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000295809 +1 known p.T555M 0.013 498 0% 593 14% 57 5.2% benign(0.01) deleterious(0.04) neutral(0.349) NULL CADM3 57863 genome.wustl.edu 37 1 159162419 159162419 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021189.3 +1 validated p.S128N 1.000 388 0% 291 15.5% 0 - benign(0.114) tolerated(0.56) neutral(0.015) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 CADM3 57863 genome.wustl.edu 37 1 159166159 159166159 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021189.3 +1 validated p.P267S 0.999 125 0% 93 16.1% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_SSF48726 FCER1A 2205 genome.wustl.edu 37 1 159277609 159277609 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002001.2 +1 reviewed p.G221* 0.001 289 0% 382 13.4% 0 - - - - NULL OR10J3 441911 genome.wustl.edu 37 1 159283925 159283925 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004467.1 -1 provisional p.I175 0.133 333 0% 328 18.9% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 CRP 1401 genome.wustl.edu 37 1 159683656 159683656 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000567.2 -1 reviewed p.V112I 0.000 626 0% 645 17.5% 0 - benign(0.012) tolerated(0.18) neutral(0.057) HMMPfam_Pentaxin,HMMSmart_SM00159,superfamily_Concanavalin A-like lectins/glucanases FCRL6 343413 genome.wustl.edu 37 1 159784012 159784012 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004310.2 +1 validated p.V359 0.004 397 0% 306 11.1% 0 - - - - NULL SLAMF8 56833 genome.wustl.edu 37 1 159802890 159802890 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020125.2 +1 reviewed p.A198T 0.992 323 0.3% 320 17.5% 9 0% possibly_damaging(0.903) tolerated(0.11) deleterious(0.629) superfamily_Immunoglobulin VSIG8 391123 genome.wustl.edu 37 1 159827665 159827665 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001013661.1 -1 provisional p.Q174H 0.939 45 0% 50 26% 0 - possibly_damaging(0.497) tolerated(0.07) deleterious(0.485) HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin IGSF9 57549 genome.wustl.edu 37 1 159898275 159898275 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001135050.1 -1 validated p.R968H 0.011 34 0% 24 20.8% 17 29.4% benign(0) tolerated(0.07) neutral(0.319) NULL IGSF9 57549 genome.wustl.edu 37 1 159900212 159900212 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001135050.1 -1 validated p.A611S 0.983 220 0.5% 231 10.4% 21 19% benign(0.071) tolerated(0.4) neutral(0.021) NULL IGSF9 57549 genome.wustl.edu 37 1 159900217 159900217 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001135050.1 -1 validated p.T609M 1.000 222 0% 227 17.6% 20 25% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL IGSF9 57549 genome.wustl.edu 37 1 159901256 159901256 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001135050.1 -1 validated p.N500 0.000 302 0% 272 22.1% 21 19% - - - superfamily_SSF48726 SLAMF9 89886 genome.wustl.edu 37 1 159922091 159922091 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033438.3 -1 reviewed p.V209I 0.000 174 0.6% 163 18.4% 0 - benign(0.001) tolerated(0.24) neutral(0.037) superfamily_Immunoglobulin SLAMF9 89886 genome.wustl.edu 37 1 159922266 159922266 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033438.3 -1 reviewed p.C150 0.012 314 0.3% 385 16.4% 0 - - - - superfamily_Immunoglobulin SLAMF9 89886 genome.wustl.edu 37 1 159923133 159923133 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033438.3 -1 reviewed p.I119 0.000 233 0% 185 15.7% 0 - - - - superfamily_Immunoglobulin SLAMF9 89886 genome.wustl.edu 37 1 159923161 159923161 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033438.3 -1 reviewed p.A110D 0.017 244 0% 191 16.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Immunoglobulin IGSF8 93185 genome.wustl.edu 37 1 160063801 160063801 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052868.2 -1 provisional p.S201 1.000 368 0.3% 257 15.6% 50 32% - - - HMMSmart_SM00409,superfamily_Immunoglobulin ATP1A2 477 genome.wustl.edu 37 1 160093154 160093154 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000702.3 +1 reviewed p.F110S 1.000 311 0% 284 10.2% 0 - benign(0.019) deleterious(0) neutral(0.446) HMMPfam_Cation_ATPase_N,superfamily_SSF81665 ATP1A2 477 genome.wustl.edu 37 1 160100269 160100269 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000702.3 +1 reviewed p.T570M 0.997 258 0% 235 16.2% 1 0% possibly_damaging(0.75) tolerated(0.18) neutral(0.331) HMMPfam_Hydrolase,superfamily_SSF56784,superfamily_SSF81660,superfamily_SSF81665 ATP1A4 480 genome.wustl.edu 37 1 160143396 160143396 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144699.3 +1 reviewed p.P627H 1.000 396 0% 388 19.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Calcium ATPase transmembrane domain M ATP1A4 480 genome.wustl.edu 37 1 160144416 160144416 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144699.3 +1 reviewed p.A730 0.055 188 0% 176 19.9% 0 - - - - HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Calcium ATPase transmembrane domain M ATP1A4 480 genome.wustl.edu 37 1 160146312 160146312 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144699.3 +1 reviewed p.I837T 1.000 197 0% 184 10.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Cation_ATPase_C,superfamily_Calcium ATPase transmembrane domain M CASQ1 844 genome.wustl.edu 37 1 160163622 160163622 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001231.4 +1 reviewed p.V144 1.000 272 0.4% 257 15.2% 0 - - - - HMMPfam_Calsequestrin,superfamily_Thiordxn-like_fd CASQ1 844 genome.wustl.edu 37 1 160169701 160169701 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001231.4 +1 reviewed p.V343I 1.000 81 0% 60 20% 1 0% possibly_damaging(0.594) tolerated(0.17) neutral(0.264) HMMPfam_Calsequestrin,superfamily_Thiordxn-like_fd DCAF8 50717 genome.wustl.edu 37 1 160209745 160209745 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015726.3 -1 reviewed p.L155 0.993 169 0% 147 15.6% 50 24% - - - superfamily_WD40 repeat-like COPA 1314 genome.wustl.edu 37 1 160283886 160283886 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098398.1 -1 reviewed p.R246W 1.000 250 0.8% 202 19.3% 162 24% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 VANGL2 57216 genome.wustl.edu 37 1 160395013 160395013 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020335.1 +1 validated p.G471S 0.997 235 0% 242 21.1% 7 0% benign(0.009) tolerated(0.6) neutral(0.005) HMMPfam_Strabismus SLAMF1 6504 genome.wustl.edu 37 1 160607313 160607313 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003037.2 -1 validated p.R28H 0.000 224 0% 223 17.5% 0 - benign(0.031) tolerated(0.3) neutral(0.030) HMMPfam_SLAM SLAMF7 57823 genome.wustl.edu 37 1 160718189 160718189 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021181.3 +1 provisional p.G87 0.018 210 0% 269 15.6% 5 0% - - - HMMPfam_V-set,superfamily_Immunoglobulin SLAMF7 57823 genome.wustl.edu 37 1 160718303 160718303 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021181.3 +1 provisional p.Y125 0.987 191 0% 206 17% 8 0% - - - HMMPfam_V-set,superfamily_Immunoglobulin LY9 4063 genome.wustl.edu 37 1 160771649 160771649 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001033667.1 +1 validated p.G175D 0.980 73 0% 64 17.2% 0 - unknown(0) deleterious(0) - NULL CD244 51744 genome.wustl.edu 37 1 160801205 160801205 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016382.3 -1 reviewed p.Q344K 0.000 432 0% 386 12.4% 0 - possibly_damaging(0.662) tolerated(0.21) neutral(0.278) NULL ITLN2 142683 genome.wustl.edu 37 1 160920430 160920430 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080878.2 -1 validated p.Q171H 0.000 190 0% 164 17.7% 0 - benign(0.002) tolerated(0.28) neutral(0.032) superfamily_Fibrinogen C-terminal domain-like USF1 7391 genome.wustl.edu 37 1 161010028 161010028 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007122.3 -1 reviewed p.D269 0.987 489 0% 418 15.3% 107 19.6% unknown(0) - - superfamily_HLH helix-loop-helix DNA-binding domain ARHGAP30 257106 genome.wustl.edu 37 1 161017804 161017804 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001025598.1 -1 validated p.L1003I 0.036 170 0% 133 18.8% 12 0% benign(0.111) deleterious(0) neutral(0.453) NULL ARHGAP30 257106 genome.wustl.edu 37 1 161017902 161017902 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001025598.1 -1 validated p.R970Q 1.000 182 0% 126 22.2% 5 20% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ARHGAP30 257106 genome.wustl.edu 37 1 161018043 161018043 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001025598.1 -1 validated p.R923H 0.997 129 0% 96 16.7% 8 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ARHGAP30 257106 genome.wustl.edu 37 1 161019397 161019397 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001025598.1 -1 validated p.S501 0.681 111 0% 91 23.1% 8 0% - - - NULL PVRL4 81607 genome.wustl.edu 37 1 161044092 161044092 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030916.2 -1 validated p.A358T 0.006 176 0% 133 17.3% 7 28.5% possibly_damaging(0.621) deleterious(0.02) deleterious(0.600) NULL PVRL4 81607 genome.wustl.edu 37 1 161049492 161049492 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030916.2 -1 validated p.D109 0.979 35 0% 30 26.7% 12 16.6% - - - HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 USP21 27005 genome.wustl.edu 37 1 161132833 161132833 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001014443.2 +1 reviewed p.G340* 0.982 205 0% 171 14.6% 49 6.1% - - - HMMPfam_UCH,superfamily_Cysteine proteinases PPOX 5498 genome.wustl.edu 37 1 161140454 161140454 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000309.3 +1 reviewed p.G381 0.099 211 0% 146 15.1% 20 15% - - - HMMPfam_Amino_oxidase B4GALT3 8703 genome.wustl.edu 37 1 161141721 161141721 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003779.2 -1 reviewed p.R356H 0.924 95 0% 84 16.7% 217 17% possibly_damaging(0.438) tolerated(0.1) neutral(0.429) NULL B4GALT3 8703 genome.wustl.edu 37 1 161144906 161144906 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003779.2 -1 reviewed p.R122 0.823 206 0% 157 17.2% 195 16.9% - - - HMMPfam_Galactosyl_T_2,superfamily_Nucleotide-diphospho-sugar transferases ADAMTS4 9507 genome.wustl.edu 37 1 161167976 161167976 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005099.4 -1 reviewed p.A148S 1.000 135 0% 123 10.6% 1 0% benign(0) tolerated(0.26) neutral(0.034) HMMPfam_Pep_M12B_propep NDUFS2 4720 genome.wustl.edu 37 1 161176354 161176354 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004550.4 +1 reviewed p.T120 0.011 97 1% 68 14.7% 301 25.5% - - - PatternScan_COMPLEX1_49K,superfamily_SSF56762 NR1I3 9970 genome.wustl.edu 37 1 161200569 161200569 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000506209 -1 known p.H288 0.000 194 0% 159 14.5% 0 - - - - HMMSmart_SM00430 MPZ 4359 genome.wustl.edu 37 1 161277196 161277196 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000530.6 -1 reviewed p.A39V 1.000 109 0% 99 17.2% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_V-set C1orf192 257177 genome.wustl.edu 37 1 161334888 161334888 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001013625.2 -1 predicted p.T134N 0.962 202 0% 156 17.9% 32 28.1% probably_damaging(0.978) tolerated(0.4) neutral(0.436) NULL HSPA6 3310 genome.wustl.edu 37 1 161495245 161495245 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002155.3 +1 validated p.R266H 1.000 28 0% 26 15.4% 56 28.5% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_HSP70,superfamily_Actin-like ATPase domain HSPA6 3310 genome.wustl.edu 37 1 161495440 161495440 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002155.3 +1 validated p.A331V 1.000 40 0% 39 12.8% 39 10.2% benign(0.001) deleterious(0.02) neutral(0.383) HMMPfam_HSP70,superfamily_Actin-like ATPase domain FCGR2C 9103 genome.wustl.edu 37 1 161561150 161561150 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_201563.4 +1 reviewed p.T203M 0.000 284 0.4% 241 17% 6 0% benign(0.159) tolerated(0.38) neutral(0.032) HMMSmart_SM00409,superfamily_Immunoglobulin FCGR2B 2213 genome.wustl.edu 37 1 161641232 161641232 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004001.3 +1 validated p.L62F 0.839 292 0% 265 15.8% 2 0% probably_damaging(0.966) tolerated(0.28) neutral(0.440) HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin FCGR2B 2213 genome.wustl.edu 37 1 161642989 161642989 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004001.3 +1 validated p.S206P 0.000 190 0% 184 10.3% 2 0% probably_damaging(0.963) tolerated(0.1) deleterious(0.692) HMMSmart_SM00409,superfamily_Immunoglobulin FCRLA 84824 genome.wustl.edu 37 1 161681071 161681071 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032738.3 +1 reviewed p.W119* 1.000 66 0% 76 23.7% 2 0% - - - HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 ATF6 22926 genome.wustl.edu 37 1 161762060 161762060 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007348.2 +1 validated p.L211F 0.547 715 0% 949 19.7% 67 28.3% probably_damaging(0.99) tolerated(0.25) deleterious(0.478) NULL ATF6 22926 genome.wustl.edu 37 1 161790890 161790890 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007348.2 +1 validated p.R376* 1.000 277 0% 317 20.8% 38 0% - - - NULL ATF6 22926 genome.wustl.edu 37 1 161830048 161830048 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007348.2 +1 validated p.E529* 1.000 172 0% 191 18.3% 67 0% - - - NULL OLFML2B 25903 genome.wustl.edu 37 1 161967859 161967859 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015441.1 -1 provisional p.L410 0.000 118 0% 95 13.7% 13 0% - - - NULL OLFML2B 25903 genome.wustl.edu 37 1 161987265 161987265 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015441.1 -1 provisional p.A157 0.861 227 0% 233 17.6% 7 0% - - - NULL NOS1AP 9722 genome.wustl.edu 37 1 162124246 162124246 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014697.2 +1 reviewed p.A53T 1.000 72 0% 67 28.4% 18 5.5% benign(0.001) tolerated(0.09) neutral(0.296) HMMPfam_PID,HMMSmart_PTB,superfamily_SSF50729 UHMK1 127933 genome.wustl.edu 37 1 162470029 162470029 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175866.4 +1 reviewed p.G185C 1.000 159 0% 116 19.8% 40 25% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase UHMK1 127933 genome.wustl.edu 37 1 162470777 162470777 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175866.4 +1 reviewed p.G212 1.000 252 0% 200 22% 34 32.3% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase UAP1 6675 genome.wustl.edu 37 1 162551152 162551152 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003115.4 +1 validated p.S246I 0.379 367 0% 409 15.6% 126 19% benign(0.045) deleterious(0.02) neutral(0.386) HMMPfam_UDPGP,superfamily_Nucleotide-diphospho-sugar transferases UAP1 6675 genome.wustl.edu 37 1 162560283 162560283 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003115.4 +1 validated p.R447H 0.985 263 0.4% 340 20% 164 18.9% benign(0.036) tolerated(0.26) neutral(0.036) HMMPfam_UDPGP,superfamily_Nucleotide-diphospho-sugar transferases LOC100287509 100287509 genome.wustl.edu 37 1 162949533 162949533 + Silent SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002342119.1 -1 model p.I17 0.994 78 0% 69 13% 0 - - - - HMMPfam_COX7B RGS5 8490 genome.wustl.edu 37 1 163117223 163117223 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003617.3 -1 validated p.D152G 0.997 329 0% 347 15.6% 27 3.7% possibly_damaging(0.951) deleterious(0) deleterious(0.839) HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS NUF2 83540 genome.wustl.edu 37 1 163295897 163295897 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031423.3 +1 reviewed p.R19H 1.000 428 0% 382 18.1% 11 18.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Nuf2 NUF2 83540 genome.wustl.edu 37 1 163310153 163310153 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031423.3 +1 reviewed e8-1 0.707 300 0% 350 18.3% 1 0% - - - - RXRG 6258 genome.wustl.edu 37 1 165389155 165389155 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006917.3 -1 reviewed p.G132R 0.536 234 0% 226 16.4% 12 25% benign(0.004) tolerated(0.53) neutral(0.007) NULL TADA1 117143 genome.wustl.edu 37 1 166826822 166826822 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_053053.3 -1 validated p.E330D 0.991 247 0% 214 14% 23 39.1% benign(0.001) tolerated(0.65) neutral(0.003) NULL TADA1 117143 genome.wustl.edu 37 1 166827418 166827418 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_053053.3 -1 validated p.G265R 0.991 202 0% 185 14.6% 34 29.4% possibly_damaging(0.527) tolerated(0.07) deleterious(0.497) NULL ILDR2 387597 genome.wustl.edu 37 1 166905905 166905905 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_199351.1 -1 provisional p.C209Y 1.000 79 0% 71 14.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LSR ILDR2 387597 genome.wustl.edu 37 1 166926018 166926018 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_199351.1 -1 provisional p.D151Y 1.000 379 0% 400 10.5% 0 - possibly_damaging(0.681) deleterious(0.01) deleterious(0.649) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 MAEL 84944 genome.wustl.edu 37 1 166990948 166990948 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032858.1 +1 validated p.S387 0.984 263 0% 288 14.9% 0 - - - - NULL GPA33 10223 genome.wustl.edu 37 1 167024998 167024998 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005814.1 -1 reviewed p.Q220H 0.009 308 0.3% 239 17.6% 1 0% possibly_damaging(0.868) deleterious(0.03) deleterious(0.702) HMMSmart_SM00409,superfamily_Immunoglobulin GPA33 10223 genome.wustl.edu 37 1 167038278 167038278 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005814.1 -1 reviewed p.D99A 0.080 75 0% 93 12.9% 2 0% possibly_damaging(0.544) deleterious(0.04) deleterious(0.533) HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin POU2F1 5451 genome.wustl.edu 37 1 167370700 167370700 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002697.2 +1 provisional p.P465T 0.996 128 0% 135 13.3% 4 25% probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL ADCY10 55811 genome.wustl.edu 37 1 167779983 167779983 + Frame_Shift_Del DEL T T - novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018417.4 -1 reviewed p.K1550fs 0.228 - - - - - - - - - NULL ADCY10 55811 genome.wustl.edu 37 1 167787339 167787339 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018417.4 -1 reviewed p.A1485T 0.903 224 0% 179 15.6% 0 - possibly_damaging(0.894) tolerated(0.28) neutral(0.383) superfamily_TPR-like ADCY10 55811 genome.wustl.edu 37 1 167825526 167825526 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018417.4 -1 reviewed p.A683V 0.742 742 0.4% 793 20.6% 0 - probably_damaging(1) tolerated(0.11) deleterious(0.772) NULL DCAF6 55827 genome.wustl.edu 37 1 168032976 168032976 + Silent SNP C C T rs35293301 byCluster TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018442.2 +1 validated p.G735 1.000 188 0% 185 13% 142 21.1% - - - HMMSmart_WD40,superfamily_WD40_like GPR161 23432 genome.wustl.edu 37 1 168065896 168065896 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153832.1 -1 provisional p.A317T 1.000 146 0% 137 13.1% 5 20% possibly_damaging(0.711) deleterious(0.01) deleterious(0.663) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GPR161 23432 genome.wustl.edu 37 1 168066470 168066470 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153832.1 -1 provisional p.R125 1.000 143 0% 96 14.6% 7 28.5% - - - HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like DPT 1805 genome.wustl.edu 37 1 168698111 168698111 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001937.3 -1 reviewed p.E101G 1.000 156 0% 155 16.1% 1 0% probably_damaging(0.995) tolerated(0.13) deleterious(0.710) NULL BLZF1 8548 genome.wustl.edu 37 1 169346091 169346091 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003666.2 +1 validated p.E114D 0.762 485 0.2% 509 16.9% 23 21.7% benign(0.007) tolerated(0.19) neutral(0.050) NULL C1orf114 57821 genome.wustl.edu 37 1 169390680 169390680 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021179.1 -1 predicted p.T330I 0.884 476 0.2% 463 15.8% 0 - possibly_damaging(0.856) tolerated(0.08) deleterious(0.631) NULL F5 2153 genome.wustl.edu 37 1 169509717 169509717 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000130.4 -1 reviewed p.D1537E 0.000 203 0% 229 16.2% 1 0% benign(0.002) deleterious(0.01) neutral(0.406) NULL F5 2153 genome.wustl.edu 37 1 169510772 169510772 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000130.4 -1 reviewed p.I1186V 0.000 816 0% 1011 18.5% 1 0% benign(0.001) tolerated(0.48) neutral(0.011) HMMPfam_LSPR F5 2153 genome.wustl.edu 37 1 169515748 169515748 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000130.4 -1 reviewed p.K565T 0.867 378 0% 412 19.4% 2 0% probably_damaging(0.998) tolerated(0.17) deleterious(0.533) superfamily_Cupredoxins F5 2153 genome.wustl.edu 37 1 169519050 169519050 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000130.4 -1 reviewed p.Q534* 0.781 154 0% 168 24.4% 0 - - - - NULL F5 2153 genome.wustl.edu 37 1 169521859 169521859 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000130.4 -1 reviewed p.P411L 0.000 213 0% 231 15.6% 1 0% benign(0.006) deleterious(0) neutral(0.445) superfamily_Cupredoxins SELP 6403 genome.wustl.edu 37 1 169564016 169564016 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003005.3 -1 reviewed p.C734Y 0.998 203 0% 221 22.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain SELL 6402 genome.wustl.edu 37 1 169677598 169677598 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000655.4 -1 reviewed p.D144 0.947 353 0% 454 15% 0 - - - - HMMPfam_Lectin_C,HMMSmart_CLECT,superfamily_C-type_lectin_fold,PatternScan_C_TYPE_LECTIN_1 SELL 6402 genome.wustl.edu 37 1 169677676 169677676 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000655.4 -1 reviewed p.E118D 0.998 382 0.3% 468 15.6% 2 0% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_Lectin_C,HMMSmart_CLECT,superfamily_C-type_lectin_fold SELL 6402 genome.wustl.edu 37 1 169677905 169677905 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000655.4 -1 reviewed p.H42R 1.000 114 0% 151 16.6% 5 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMSmart_CLECT,superfamily_C-type_lectin_fold SELE 6401 genome.wustl.edu 37 1 169699573 169699573 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000450.2 -1 reviewed p.V239M 0.977 267 0.4% 290 15.9% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Complement control module/SCR domain SELE 6401 genome.wustl.edu 37 1 169702136 169702136 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000450.2 -1 reviewed p.L14R 0.776 126 0% 140 15% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00034 METTL18 92342 genome.wustl.edu 37 1 169762632 169762632 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033418.1 -1 provisional p.A69T 0.004 305 0% 269 16.4% 28 28.5% benign(0.002) deleterious(0.02) neutral(0.383) NULL C1orf112 55732 genome.wustl.edu 37 1 169796322 169796322 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018186.2 +1 predicted p.V327F 0.917 210 0.5% 205 20% 26 30.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL C1orf112 55732 genome.wustl.edu 37 1 169801597 169801597 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018186.2 +1 predicted p.L497I 0.464 324 0% 385 17.7% 20 15% probably_damaging(0.973) tolerated(0.22) neutral(0.457) NULL C1orf112 55732 genome.wustl.edu 37 1 169806247 169806247 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018186.2 +1 predicted p.E573D 0.000 199 0% 305 12.1% 13 30.7% benign(0) tolerated(0.53) neutral(0.007) NULL C1orf112 55732 genome.wustl.edu 37 1 169819427 169819427 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018186.2 +1 predicted p.V729F 1.000 105 0% 95 22.1% 17 41.1% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL SCYL3 57147 genome.wustl.edu 37 1 169828226 169828226 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181093.2 -1 validated p.R423H 1.000 325 0% 347 16.1% 14 21.4% benign(0.297) tolerated(0.12) neutral(0.353) superfamily_ARM repeat KIFAP3 22920 genome.wustl.edu 37 1 169985714 169985714 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014970.2 -1 reviewed p.E358K 1.000 350 0% 486 16.5% 85 17.6% probably_damaging(0.979) tolerated(0.4) neutral(0.438) HMMSmart_SM00185,HMMPfam_KAP,superfamily_ARM repeat KIFAP3 22920 genome.wustl.edu 37 1 170007543 170007543 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014970.2 -1 reviewed p.M135I 1.000 270 0.4% 299 13.7% 36 22.2% benign(0) tolerated(1) - HMMPfam_KAP,superfamily_ARM repeat GORAB 92344 genome.wustl.edu 37 1 170508441 170508441 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152281.2 +1 reviewed p.L76R 0.989 267 0.4% 310 19.4% 41 24.3% possibly_damaging(0.887) tolerated(0.15) deleterious(0.588) NULL GORAB 92344 genome.wustl.edu 37 1 170521211 170521211 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152281.2 +1 reviewed p.R265C 1.000 368 0% 398 15.8% 54 18.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL C1orf129 80133 genome.wustl.edu 37 1 170927626 170927626 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025063.2 +1 validated p.D33Y 0.054 389 0% 409 14.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FMO3 2328 genome.wustl.edu 37 1 171086355 171086355 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001002294.2 +1 reviewed p.A458T 1.000 328 0.3% 392 16.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_FMO-like FMO1 2326 genome.wustl.edu 37 1 171236864 171236864 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002021.1 +1 reviewed p.Q105 0.972 277 0% 275 17.1% 1 0% - - - HMMPfam_FMO-like,superfamily_FAD/NAD(P)-binding domain PRRC2C 23215 genome.wustl.edu 37 1 171501586 171501586 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015172.3 +1 validated p.Q451H 0.656 108 0% 119 14.3% 41 19.5% unknown(0) deleterious(0.01) - NULL PRRC2C 23215 genome.wustl.edu 37 1 171501648 171501648 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015172.3 +1 validated p.R472I 1.000 103 0% 103 15.5% 23 13% unknown(0) deleterious(0) - NULL PRRC2C 23215 genome.wustl.edu 37 1 171511341 171511341 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015172.3 +1 validated p.G1577D 1.000 102 0% 94 12.8% 38 7.8% unknown(0) - - NULL MYOC 4653 genome.wustl.edu 37 1 171605235 171605235 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000261.1 -1 reviewed p.V449I 0.125 414 0% 365 17.3% 1 0% benign(0.004) tolerated(0.27) neutral(0.034) HMMPfam_OLF,HMMSmart_SM00284 C1orf9 51430 genome.wustl.edu 37 1 172520731 172520731 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014283.3 +1 validated p.A48T 0.540 149 0% 154 20.1% 21 9.5% benign(0.323) deleterious(0) deleterious(0.545) NULL C1orf9 51430 genome.wustl.edu 37 1 172539858 172539858 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014283.3 +1 validated p.S346N 1.000 70 0% 67 17.9% 32 25% probably_damaging(0.993) deleterious(0.04) deleterious(0.799) superfamily_Galactose-binding domain-like,HMMPfam_Sad1_UNC FASLG 356 genome.wustl.edu 37 1 172628574 172628574 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000639.1 +1 reviewed p.S78I 0.524 72 0% 64 12.5% 0 - benign(0.029) deleterious(0) neutral(0.446) NULL PRDX6 9588 genome.wustl.edu 37 1 173455471 173455471 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004905.2 +1 reviewed p.E159D 1.000 405 0% 446 17.9% 939 22.7% benign(0.225) deleterious(0) neutral(0.467) superfamily_Thioredoxin-like,HMMPfam_1-cysPrx_C SLC9A11 284525 genome.wustl.edu 37 1 173474432 173474432 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178527.3 -1 validated p.I1088 0.063 165 0% 159 20.8% 0 - - - - NULL SLC9A11 284525 genome.wustl.edu 37 1 173503715 173503715 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178527.3 -1 validated p.L628M 0.104 245 0.4% 365 14.2% 0 - probably_damaging(0.993) tolerated(0.21) deleterious(0.494) NULL ANKRD45 339416 genome.wustl.edu 37 1 173616022 173616022 + Nonsense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198493.2 -1 validated p.Y153* 0.829 377 0% 440 15.7% 0 - - - - superfamily_Ankyrin repeat KLHL20 27252 genome.wustl.edu 37 1 173725142 173725142 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014458.3 +1 reviewed p.R311Q 1.000 181 0.6% 175 15.4% 14 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Galactose oxidase central domain DARS2 55157 genome.wustl.edu 37 1 173807388 173807388 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018122.4 +1 reviewed p.E277D 0.969 117 0% 95 14.7% 35 25.7% probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_tRNA-synt_2,superfamily_SSF55681 DARS2 55157 genome.wustl.edu 37 1 173825848 173825848 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018122.4 +1 reviewed p.Y573 0.197 224 0% 202 17.8% 49 14.2% - - - HMMPfam_tRNA-synt_2,superfamily_SSF55681 SERPINC1 462 genome.wustl.edu 37 1 173883827 173883827 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000488.3 -1 reviewed p.A91V 1.000 384 0% 383 16.4% 0 - unknown(0) deleterious(0.02) - HMMPfam_Serpin,superfamily_Prot_inh_serpin SERPINC1 462 genome.wustl.edu 37 1 173883863 173883863 + Missense_Mutation SNP C C T rs121909552 byCluster;by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000488.3 -1 reviewed p.R79H 0.999 439 0.2% 425 16.2% 0 - unknown(0) deleterious(0) - HMMPfam_Serpin,superfamily_Prot_inh_serpin RC3H1 149041 genome.wustl.edu 37 1 173907947 173907947 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_172071.2 -1 validated p.S1105I 1.000 197 0% 235 17% 4 25% benign(0.012) deleterious(0.01) neutral(0.406) NULL RC3H1 149041 genome.wustl.edu 37 1 173931091 173931091 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_172071.2 -1 validated p.Q658H 1.000 338 0% 317 16.4% 6 50% benign(0.001) tolerated(0.13) neutral(0.253) NULL RC3H1 149041 genome.wustl.edu 37 1 173952678 173952678 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_172071.2 -1 validated p.A157V 1.000 491 0.2% 419 17.4% 8 25% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL RABGAP1L 9910 genome.wustl.edu 37 1 174668743 174668743 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014857.3 +1 validated p.F660 1.000 207 0.5% 241 17% 13 7.6% - - - HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p TNN 63923 genome.wustl.edu 37 1 175046867 175046867 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022093.1 +1 validated p.V105I 0.001 101 0% 59 13.6% 0 - benign(0.363) tolerated(0.09) neutral(0.412) NULL TNN 63923 genome.wustl.edu 37 1 175063271 175063271 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022093.1 +1 validated p.H490 0.284 73 0% 68 20.6% 1 0% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TNN 63923 genome.wustl.edu 37 1 175092608 175092608 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022093.1 +1 validated p.V908A 0.425 633 0.2% 638 11.3% 0 - possibly_damaging(0.924) tolerated(1) neutral(0.373) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TNN 63923 genome.wustl.edu 37 1 175096130 175096130 + Missense_Mutation SNP C C T rs182894731 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022093.1 +1 validated p.T985M 0.012 415 0% 390 15.4% 1 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TNN 63923 genome.wustl.edu 37 1 175104981 175104981 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022093.1 +1 validated p.V1111I 1.000 213 0% 168 16.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like TNR 7143 genome.wustl.edu 37 1 175293513 175293513 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003285.2 -1 validated p.Y1312 0.902 296 0% 301 19.9% 0 - - - - HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like TNR 7143 genome.wustl.edu 37 1 175348850 175348850 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003285.2 -1 validated p.R601* 0.986 117 0% 148 10.8% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TNR 7143 genome.wustl.edu 37 1 175365738 175365738 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000422274 -1 known p.R119C 1.000 121 0% 92 15.2% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III RFWD2 64326 genome.wustl.edu 37 1 175958605 175958605 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022457.5 -1 validated p.V580 1.000 216 0% 186 12.9% 114 17.5% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 RFWD2 64326 genome.wustl.edu 37 1 176085769 176085769 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022457.5 -1 validated p.G339 1.000 937 0% 976 14.4% 83 18% - - - superfamily_WD40 repeat-like RFWD2 64326 genome.wustl.edu 37 1 176132105 176132105 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022457.5 -1 validated p.I221T 1.000 228 0% 288 21.2% 34 35.2% benign(0) tolerated(0.41) neutral(0.015) NULL PAPPA2 60676 genome.wustl.edu 37 1 176640203 176640203 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020318.2 +1 validated p.A697T 1.000 406 0% 645 17.2% 0 - probably_damaging(1) tolerated(0.12) deleterious(0.760) "superfamily_Metalloproteases (""zincins"") catalytic domain" PAPPA2 60676 genome.wustl.edu 37 1 176675534 176675534 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020318.2 +1 validated p.S1135 0.392 163 0% 212 9.9% 0 - - - - NULL PAPPA2 60676 genome.wustl.edu 37 1 176675579 176675579 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020318.2 +1 validated p.N1150 0.999 150 0% 188 10.6% 2 0% - - - NULL PAPPA2 60676 genome.wustl.edu 37 1 176709306 176709306 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020318.2 +1 validated p.D1375 0.064 205 0% 285 16.1% 1 100% - - - NULL ASTN1 460 genome.wustl.edu 37 1 176852108 176852108 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000450659 -1 known p.T374M 0.494 269 0% 209 18.2% 0 - - - - superfamily_Fibronectin type III ASTN1 460 genome.wustl.edu 37 1 176992701 176992701 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004319.1 -1 validated p.R426H 1.000 91 0% 50 28% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL FAM5B 57795 genome.wustl.edu 37 1 177242701 177242701 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021165.2 +1 provisional p.Q249H 1.000 95 0% 87 16.1% 0 - benign(0.008) tolerated(0.14) neutral(0.249) HMMSmart_SM00457 FAM5B 57795 genome.wustl.edu 37 1 177250008 177250008 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021165.2 +1 provisional p.V566M 1.000 126 0% 102 18.6% 0 - benign(0.429) tolerated(1) neutral(0.140) NULL SEC16B 89866 genome.wustl.edu 37 1 177929933 177929933 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033127.2 -1 validated p.S310I 1.000 43 0% 43 18.6% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RASAL2 9462 genome.wustl.edu 37 1 178426967 178426967 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_170692.2 +1 reviewed p.S836I 1.000 352 0% 333 24.6% 9 44.4% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL RASAL2 9462 genome.wustl.edu 37 1 178433465 178433465 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_170692.2 +1 reviewed p.A1091V 1.000 158 0% 143 12.6% 7 14.2% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ANGPTL1 9068 genome.wustl.edu 37 1 178834797 178834797 + Splice_Site SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000415564 -1 known e1+1 0.976 348 0% 353 16.1% 8 25% benign(0.031) deleterious(0.02) neutral(0.385) - TOR3A 64222 genome.wustl.edu 37 1 179054922 179054922 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022371.3 +1 validated p.R178Q 0.982 61 0% 49 16.3% 87 16% probably_damaging(1) tolerated(0.29) deleterious(0.529) HMMPfam_Torsin,superfamily_P-loop containing nucleoside triphosphate hydrolases AXDND1 126859 genome.wustl.edu 37 1 179502986 179502986 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144696.4 +1 validated p.V924 0.965 390 0% 451 20.6% 0 - - - - NULL NPHS2 7827 genome.wustl.edu 37 1 179528824 179528824 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014625.2 -1 reviewed p.P175H 0.998 52 0% 48 27.1% 0 - unknown(0) deleterious(0) - HMMPfam_Band_7,HMMSmart_SM00244 TDRD5 163589 genome.wustl.edu 37 1 179620015 179620015 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173533.2 +1 provisional p.S605L 0.055 676 0.1% 718 16.6% 1 0% benign(0.019) tolerated(0.21) neutral(0.045) NULL TDRD5 163589 genome.wustl.edu 37 1 179631286 179631286 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173533.2 +1 provisional p.G736 1.000 430 0.5% 446 15% 3 33.3% - - - NULL TOR1AIP2 163590 genome.wustl.edu 37 1 179819995 179819995 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145034.3 -1 validated p.R180* 0.954 207 0.5% 203 20.7% 18 0% - - - HMMPfam_LAP1C TOR1AIP1 26092 genome.wustl.edu 37 1 179870518 179870518 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015602.2 +1 validated p.S245Y 0.033 206 0% 193 20.2% 47 36.1% possibly_damaging(0.775) tolerated(0.12) deleterious(0.549) HMMPfam_LAP1C CEP350 9857 genome.wustl.edu 37 1 179983377 179983377 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014810.4 +1 reviewed p.R597* 1.000 174 0% 139 15.1% 4 0% - - - NULL CEP350 9857 genome.wustl.edu 37 1 180010799 180010799 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000418229 +1 known p.P17T 0.998 131 0.8% 116 18.1% 5 0% - - - NULL CEP350 9857 genome.wustl.edu 37 1 180013226 180013226 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014810.4 +1 reviewed p.T1514S 0.001 41 0% 56 19.6% 3 0% benign(0.005) tolerated(0.48) neutral(0.011) NULL CEP350 9857 genome.wustl.edu 37 1 180053158 180053158 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014810.4 +1 reviewed p.T2044A 1.000 75 0% 81 25.9% 10 20% probably_damaging(0.999) tolerated(0.39) deleterious(0.506) NULL KIAA1614 57710 genome.wustl.edu 37 1 180913547 180913547 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020950.1 +1 validated p.R1061Q 1.000 57 0% 33 15.2% 9 11.1% probably_damaging(0.963) deleterious(0.05) deleterious(0.751) NULL MR1 3140 genome.wustl.edu 37 1 181019190 181019190 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001531.1 +1 provisional p.E124D 0.965 165 0% 138 16.7% 2 50% benign(0.004) tolerated(0.59) neutral(0.004) HMMPfam_MHC_I,superfamily_MHC antigen-recognition domain CACNA1E 777 genome.wustl.edu 37 1 181686228 181686228 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000721.2 +1 reviewed e11-1 1.000 218 0% 193 16.1% 0 - - - - - CACNA1E 777 genome.wustl.edu 37 1 181762881 181762881 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000357570 +1 known p.A1993 1.000 68 0% 54 20.4% 0 - - - - NULL CACNA1E 777 genome.wustl.edu 37 1 181767670 181767670 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000721.2 +1 reviewed p.P2171 0.001 79 0% 65 23.1% 0 - - - - NULL CACNA1E 777 genome.wustl.edu 37 1 181767744 181767744 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000721.2 +1 reviewed p.S2196F 1.000 39 0% 39 17.9% 0 - benign(0.311) deleterious(0.01) deleterious(0.503) NULL GLUL 2752 genome.wustl.edu 37 1 182353586 182353586 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001033044.2 -1 reviewed p.C359Y 1.000 103 0% 86 11.6% 647 16.2% possibly_damaging(0.91) deleterious(0.01) deleterious(0.768) HMMPfam_Gln-synt_C,superfamily_Glutamine synthetase/guanido kinase GLUL 2752 genome.wustl.edu 37 1 182354990 182354990 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001033044.2 -1 reviewed p.A170S 1.000 564 0.2% 562 14.4% 549 13.2% benign(0.206) tolerated(0.23) neutral(0.061) HMMPfam_Gln-synt_C,superfamily_Glutamine synthetase/guanido kinase TEDDM1 127670 genome.wustl.edu 37 1 182369054 182369054 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_172000.3 -1 validated p.D189 0.024 205 0% 186 23.1% 0 - - - - HMMPfam_DUF716 TEDDM1 127670 genome.wustl.edu 37 1 182369411 182369411 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_172000.3 -1 validated p.Q70H 1.000 271 0% 278 24.1% 0 - probably_damaging(0.996) tolerated(0.07) deleterious(0.780) NULL RNASEL 6041 genome.wustl.edu 37 1 182554538 182554538 + Silent SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021133.2 -1 reviewed p.I468 0.060 449 0% 439 18.5% 11 9% - - - HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) RNASEL 6041 genome.wustl.edu 37 1 182554654 182554654 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021133.2 -1 reviewed p.L430 0.000 357 0% 369 18.4% 1 0% - - - HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) RNASEL 6041 genome.wustl.edu 37 1 182555785 182555785 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021133.2 -1 reviewed p.F53L 0.001 243 0% 248 13.3% 0 - possibly_damaging(0.539) tolerated(0.18) neutral(0.238) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat RGS16 6004 genome.wustl.edu 37 1 182569591 182569591 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002928.3 -1 reviewed p.A149S 0.000 127 0% 131 19.8% 22 13.6% benign(0) tolerated(0.66) neutral(0.003) HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS DHX9 1660 genome.wustl.edu 37 1 182835593 182835593 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001357.4 +1 reviewed p.S449 1.000 305 0% 344 17.2% 117 30.7% - - - HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases DHX9 1660 genome.wustl.edu 37 1 182845677 182845677 + Splice_Site SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001357.4 +1 reviewed e17+1 1.000 242 0% 255 16.5% 11 72.7% - - - - SHCBP1L 81626 genome.wustl.edu 37 1 182909644 182909644 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030933.2 -1 validated p.R197H 0.999 210 0% 214 20.6% 0 - benign(0.001) tolerated(0.36) neutral(0.020) NULL LAMC1 3915 genome.wustl.edu 37 1 183079642 183079642 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002293.3 +1 reviewed p.A292T 1.000 338 0% 355 17.7% 71 18.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196 LAMC1 3915 genome.wustl.edu 37 1 183079744 183079744 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002293.3 +1 reviewed p.R326W 1.000 396 0.3% 390 14.4% 56 35.7% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,superfamily_SSF57196 LAMC1 3915 genome.wustl.edu 37 1 183084656 183084656 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002293.3 +1 reviewed p.G404 0.996 340 0% 314 19.7% 49 20.4% - - - HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_Grow_fac_recept LAMC1 3915 genome.wustl.edu 37 1 183086816 183086816 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002293.3 +1 reviewed p.G612D 1.000 296 0% 281 13.5% 82 9.7% possibly_damaging(0.662) tolerated(0.15) deleterious(0.475) HMMPfam_Laminin_B,superfamily_Grow_fac_recept,HMMSmart_LamB LAMC1 3915 genome.wustl.edu 37 1 183111824 183111824 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002293.3 +1 reviewed p.R1577* 0.968 288 0% 200 21% 232 24.5% - - - NULL LAMC2 3918 genome.wustl.edu 37 1 183184586 183184586 + Splice_Site SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005562.2 +1 reviewed e3-2 1.000 236 0.4% 260 17.7% 0 - - - - - LAMC2 3918 genome.wustl.edu 37 1 183208676 183208676 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005562.2 +1 reviewed p.E1016G 0.482 180 0% 196 15.3% 22 18.1% benign(0) tolerated(0.15) neutral(0.241) NULL SMG7 9887 genome.wustl.edu 37 1 183520223 183520223 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000515829 +1 known p.L769I 0.998 196 0% 229 21.4% 119 26% - - - NULL GLT25D2 23127 genome.wustl.edu 37 1 183908060 183908060 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015101.2 -1 validated p.T572 0.066 142 0% 117 19.7% 15 20% - - - NULL FAM129A 116496 genome.wustl.edu 37 1 184853814 184853814 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052966.2 -1 validated p.K185T 0.850 145 0% 147 18.4% 7 14.2% possibly_damaging(0.604) tolerated(0.28) neutral(0.241) NULL FAM129A 116496 genome.wustl.edu 37 1 184859287 184859287 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052966.2 -1 validated p.D130Y 0.990 224 0% 229 14.8% 9 0% possibly_damaging(0.819) deleterious(0.01) deleterious(0.715) NULL FAM129A 116496 genome.wustl.edu 37 1 184868316 184868316 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052966.2 -1 validated p.T61I 1.000 494 0.2% 646 14.6% 9 33.3% probably_damaging(0.991) tolerated(0.18) deleterious(0.500) NULL RNF2 6045 genome.wustl.edu 37 1 185056767 185056767 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007212.3 +1 reviewed p.P28S 1.000 226 0.4% 236 16.1% 51 21.5% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_RING/U-box SWT1 54823 genome.wustl.edu 37 1 185144101 185144101 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001105518.1 +1 validated p.Q274 0.000 274 0% 266 18.8% 6 16.6% - - - NULL HMCN1 83872 genome.wustl.edu 37 1 185962358 185962358 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031935.2 +1 reviewed p.R1141H 0.989 193 0% 279 16.5% 1 0% probably_damaging(0.975) tolerated(0.14) deleterious(0.666) HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 186023119 186023119 + Splice_Site SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031935.2 +1 reviewed e44+1 1.000 266 0% 435 21.6% 0 - - - - - HMCN1 83872 genome.wustl.edu 37 1 186083146 186083146 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031935.2 +1 reviewed p.V3723I 0.097 667 0.1% 682 20.4% 1 0% benign(0.004) tolerated(0.37) neutral(0.019) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 186083180 186083180 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031935.2 +1 reviewed p.C3734Y 1.000 536 0.2% 542 19% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 186088379 186088379 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031935.2 +1 reviewed p.A3969T 0.999 464 0% 546 16.8% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 186092100 186092100 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031935.2 +1 reviewed p.P4083S 0.002 346 0% 373 12.9% 2 0% benign(0) tolerated(0.78) neutral(0.001) HMMPfam_I-set,superfamily_Immunoglobulin HMCN1 83872 genome.wustl.edu 37 1 186113321 186113321 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031935.2 +1 reviewed p.S4647 0.001 267 0% 298 16.1% 0 - - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat HMCN1 83872 genome.wustl.edu 37 1 186140577 186140577 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031935.2 +1 reviewed p.C5228Y 1.000 568 0% 675 17.2% 5 0% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_EGF/Laminin PRG4 10216 genome.wustl.edu 37 1 186277880 186277880 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005807.3 +1 reviewed p.R1010I 0.019 235 0% 262 10.7% 0 - unknown(0) - - NULL TPR 7175 genome.wustl.edu 37 1 186296633 186296633 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003292.2 -1 reviewed p.D1950N 1.000 102 0% 120 11.7% 91 32.9% benign(0.355) tolerated(0.07) neutral(0.431) NULL C1orf27 54953 genome.wustl.edu 37 1 186386786 186386786 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017847.5 +1 validated p.G433C 1.000 50 0% 45 24.4% 30 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PTGS2 5743 genome.wustl.edu 37 1 186645692 186645692 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000963.2 -1 reviewed p.R293W 0.947 270 0% 271 21.4% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases FAM5C 339479 genome.wustl.edu 37 1 190067919 190067919 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_199051.1 -1 provisional p.V510 0.998 342 0% 287 18.1% 2 0% - - - NULL RGS1 5996 genome.wustl.edu 37 1 192547510 192547510 + Frame_Shift_Del DEL A A - novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002922.3 +1 reviewed p.K147fs 0.999 - - - - - - - - - HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS RGS13 6003 genome.wustl.edu 37 1 192628557 192628557 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002927.3 +1 reviewed p.V128 0.861 168 0% 210 21.9% 0 - - - - HMMPfam_RGS,HMMSmart_RGS,superfamily_Regulat_G_prot_signal_superfam RGS2 5997 genome.wustl.edu 37 1 192780653 192780653 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002923.3 +1 reviewed p.R188H 0.997 537 0.2% 548 10.6% 31 6.4% benign(0.363) deleterious(0) deleterious(0.560) HMMPfam_RGS,HMMSmart_RGS,superfamily_Regulat_G_prot_signal_superfam CDC73 79577 genome.wustl.edu 37 1 193107303 193107303 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024529.4 +1 reviewed p.R171K 1.000 450 0% 402 15.9% 61 13.1% benign(0.005) tolerated(0.55) neutral(0.007) NULL CFH 3075 genome.wustl.edu 37 1 196659276 196659276 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000186.3 +1 reviewed p.A415T 0.000 290 0% 387 19.1% 8 12.5% benign(0.023) tolerated(0.22) neutral(0.043) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CFH 3075 genome.wustl.edu 37 1 196694328 196694328 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000186.3 +1 reviewed p.V592M 0.050 307 0% 412 17% 8 0% probably_damaging(0.997) deleterious(0.03) deleterious(0.831) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CFH 3075 genome.wustl.edu 37 1 196716390 196716390 + Nonsense_Mutation SNP C C T rs121913051 TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000186.3 +1 reviewed p.R1215* 0.013 346 0% 332 16.3% 8 12.5% - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CFHR3 10878 genome.wustl.edu 37 1 196748369 196748369 + Missense_Mutation SNP G G C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021023.5 +1 reviewed p.A46P 0.000 152 0% 258 23.6% 0 - benign(0.002) tolerated(0.47) neutral(0.011) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module CFHR4 10877 genome.wustl.edu 37 1 196883721 196883721 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006684.2 +1 validated p.G179V 0.956 174 0% 191 18.3% 0 - probably_damaging(1) tolerated(0.29) deleterious(0.529) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module CFHR4 10877 genome.wustl.edu 37 1 196884270 196884270 + Splice_Site SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006684.2 +1 validated e5+2 0.516 275 0% 351 13.7% 0 - - - - - F13B 2165 genome.wustl.edu 37 1 197024882 197024882 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001994.2 -1 reviewed p.C439 0.426 381 0% 545 16% 0 - - - - HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module ASPM 259266 genome.wustl.edu 37 1 197059058 197059058 + Splice_Site SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018136.4 -1 reviewed e25+2 1.000 309 0% 462 16% 1 100% - - - - ASPM 259266 genome.wustl.edu 37 1 197059517 197059517 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018136.4 -1 reviewed p.A3213V 1.000 169 0% 222 18.9% 29 10.3% probably_damaging(0.966) deleterious(0) deleterious(0.853) HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases ASPM 259266 genome.wustl.edu 37 1 197060075 197060075 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018136.4 -1 reviewed p.R3181* 0.001 235 0% 397 22.2% 30 16.6% - - - HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases ASPM 259266 genome.wustl.edu 37 1 197061126 197061126 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018136.4 -1 reviewed p.L3119M 0.998 259 0% 410 16.3% 11 36.3% probably_damaging(0.97) tolerated(0.26) neutral(0.447) HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases ASPM 259266 genome.wustl.edu 37 1 197073381 197073381 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018136.4 -1 reviewed p.R1667H 0.965 233 0% 326 22.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases ASPM 259266 genome.wustl.edu 37 1 197073428 197073428 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018136.4 -1 reviewed p.M1651I 0.000 270 0% 356 18.5% 3 33.3% benign(0.113) tolerated(0.53) neutral(0.017) HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases ASPM 259266 genome.wustl.edu 37 1 197112756 197112756 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018136.4 -1 reviewed p.N209T 0.008 237 0% 251 18.3% 7 0% benign(0.282) deleterious(0.01) deleterious(0.492) NULL ZBTB41 360023 genome.wustl.edu 37 1 197144170 197144170 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_194314.2 -1 validated p.S652I 1.000 282 0.4% 354 19.2% 17 0% probably_damaging(0.995) deleterious(0.05) deleterious(0.803) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZBTB41 360023 genome.wustl.edu 37 1 197147552 197147552 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_194314.2 -1 validated p.S589 0.915 209 0% 225 14.7% 11 18.1% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZBTB41 360023 genome.wustl.edu 37 1 197168498 197168498 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_194314.2 -1 validated p.T369I 0.962 301 0% 309 16.5% 8 25% benign(0.001) tolerated(0.19) neutral(0.050) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CRB1 23418 genome.wustl.edu 37 1 197297633 197297633 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_201253.1 +1 reviewed p.D51G 0.079 184 0% 194 23.2% 0 - benign(0) tolerated(0.39) neutral(0.016) HMMSmart_SM00181,superfamily_EGF/Laminin CRB1 23418 genome.wustl.edu 37 1 197325961 197325961 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_201253.1 +1 reviewed p.G330V 1.000 135 0% 130 14.6% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_EGF/Laminin CRB1 23418 genome.wustl.edu 37 1 197390835 197390835 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_201253.1 +1 reviewed p.A626V 0.001 623 0% 643 18.7% 1 0% possibly_damaging(0.905) tolerated(0.25) neutral(0.396) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 CRB1 23418 genome.wustl.edu 37 1 197446899 197446899 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_201253.1 +1 reviewed p.N1371D 0.834 132 0% 167 15.6% 0 - unknown(0) - - NULL DENND1B 163486 genome.wustl.edu 37 1 197522162 197522162 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142795.1 -1 validated p.G390 1.000 353 0% 453 19.9% 7 42.8% - - - NULL NEK7 140609 genome.wustl.edu 37 1 198248186 198248186 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133494.2 +1 validated p.S195Y 1.000 155 0% 166 16.9% 39 28.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase PTPRC 5788 genome.wustl.edu 37 1 198671583 198671583 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002838.3 +1 reviewed p.T167 0.002 848 0% 828 14.5% 2 0% - - - NULL PTPRC 5788 genome.wustl.edu 37 1 198676013 198676013 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002838.3 +1 reviewed p.A277V 0.000 465 0% 486 14% 2 0% benign(0) tolerated(0.11) neutral(0.272) NULL PTPRC 5788 genome.wustl.edu 37 1 198718618 198718618 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002838.3 +1 reviewed p.S1002 0.151 364 0% 535 16.6% 9 0% - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II NR5A2 2494 genome.wustl.edu 37 1 200012979 200012979 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_205860.1 +1 validated p.S94P 1.000 90 0% 88 18.2% 1 0% probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_zf-C4,HMMSmart_SM00399,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) NR5A2 2494 genome.wustl.edu 37 1 200014583 200014583 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_205860.1 +1 validated p.R112* 1.000 152 0% 114 19.3% 4 0% - - - HMMPfam_zf-C4,HMMSmart_SM00399,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) NR5A2 2494 genome.wustl.edu 37 1 200017459 200017459 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_205860.1 +1 validated p.T208I 1.000 393 0% 345 18.3% 3 33.3% possibly_damaging(0.446) tolerated(0.44) neutral(0.159) superfamily_Nuclear receptor ligand-binding domain FAM58BP 339521 genome.wustl.edu 37 1 200182942 200182942 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001105517.1 +1 provisional p.A84V 0.999 318 0.3% 318 15.7% 0 - - - - HMMSmart_CYCLIN,superfamily_Cyclin_like ZNF281 23528 genome.wustl.edu 37 1 200377099 200377099 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012482.3 -1 provisional p.A579S 0.538 91 0% 93 14% 23 26% benign(0.079) tolerated(0.14) neutral(0.255) NULL KIF14 9928 genome.wustl.edu 37 1 200587167 200587167 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014875.2 -1 validated p.V229I 0.003 351 0% 385 14.3% 5 0% benign(0.391) deleterious(0.04) deleterious(0.474) NULL DDX59 83479 genome.wustl.edu 37 1 200619761 200619761 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001031725.4 -1 validated p.D369G 1.000 268 0% 246 13.8% 16 18.7% possibly_damaging(0.881) deleterious(0.03) deleterious(0.708) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases CAMSAP2 23271 genome.wustl.edu 37 1 200730015 200730015 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_203459.1 +1 validated p.D63V 1.000 463 0% 513 18.3% 17 29.4% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) NULL C1orf106 55765 genome.wustl.edu 37 1 200880634 200880634 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018265.2 +1 validated p.R423H 1.000 139 0% 107 18.7% 4 25% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL KIF21B 23046 genome.wustl.edu 37 1 200946393 200946393 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017596.2 -1 provisional p.G1411 1.000 166 0% 100 23% 0 - - - - HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 KIF21B 23046 genome.wustl.edu 37 1 200974788 200974788 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017596.2 -1 provisional p.S161N 0.985 140 0% 122 12.3% 0 - probably_damaging(0.982) tolerated(0.05) deleterious(0.772) HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 KIF21B 23046 genome.wustl.edu 37 1 200977939 200977939 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017596.2 -1 provisional p.G135 0.000 304 0% 285 17.2% 0 - - - - HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 KIF21B 23046 genome.wustl.edu 37 1 200978517 200978517 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017596.2 -1 provisional p.A47 1.000 242 0% 201 15.9% 2 0% - - - HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 CACNA1S 779 genome.wustl.edu 37 1 201009388 201009388 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000069.2 -1 reviewed p.A1781S 0.021 124 0% 90 17.8% 0 - benign(0.004) deleterious(0.05) neutral(0.345) NULL CACNA1S 779 genome.wustl.edu 37 1 201046247 201046247 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000069.2 -1 reviewed p.T543M 0.999 136 0% 155 21.3% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Ion_trans,superfamily_SSF81324 CACNA1S 779 genome.wustl.edu 37 1 201052335 201052335 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000069.2 -1 reviewed p.A450T 1.000 67 0% 54 16.7% 0 - probably_damaging(0.999) tolerated(0.07) deleterious(0.809) superfamily_SSF81324 IGFN1 91156 genome.wustl.edu 37 1 201186478 201186478 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000451870 +1 known p.T763I 0.265 84 0% 69 26.1% 1 0% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PKP1 5317 genome.wustl.edu 37 1 201287757 201287757 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000299.2 +1 reviewed p.N356D 1.000 109 0% 87 14.9% 1 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat PKP1 5317 genome.wustl.edu 37 1 201289433 201289433 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000299.2 +1 reviewed p.R445H 1.000 68 0% 50 16% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00185,superfamily_ARM repeat CSRP1 1465 genome.wustl.edu 37 1 201459432 201459432 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004078.2 -1 reviewed p.V51 0.919 49 0% 48 29.2% 200 19% - - - HMMPfam_LIM,HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain) NAV1 89796 genome.wustl.edu 37 1 201755602 201755602 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000430015 +1 known p.P522S 1.000 498 0% 444 19.4% 9 0% - - - NULL NAV1 89796 genome.wustl.edu 37 1 201778599 201778599 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020443.4 +1 reviewed p.G1442 0.007 105 0% 90 11.1% 3 0% - - - NULL NAV1 89796 genome.wustl.edu 37 1 201778646 201778646 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020443.4 +1 reviewed p.A1458D 0.999 127 0% 101 12.9% 4 0% benign(0.027) tolerated(0.25) neutral(0.038) superfamily_SSF52540 IPO9 55705 genome.wustl.edu 37 1 201825007 201825007 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018085.4 +1 validated p.A356V 1.000 195 0% 173 13.3% 41 19.5% benign(0.001) tolerated(1) - superfamily_ARM repeat SHISA4 149345 genome.wustl.edu 37 1 201858623 201858623 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198149.2 +1 validated p.H42Y 1.000 111 0% 99 14.1% 12 16.6% benign(0.17) deleterious(0) neutral(0.460) NULL ELF3 1999 genome.wustl.edu 37 1 201980290 201980290 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001114309.1 +1 validated p.N9S 1.000 128 0% 98 13.3% 152 18.4% possibly_damaging(0.799) tolerated(0.2) neutral(0.350) NULL ARL8A 127829 genome.wustl.edu 37 1 202103616 202103616 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138795.2 -1 validated p.H180Q 1.000 88 0% 84 15.5% 88 21.5% possibly_damaging(0.664) tolerated(0.2) neutral(0.284) HMMSmart_SM00175,HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases LGR6 59352 genome.wustl.edu 37 1 202287710 202287710 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001017403.1 +1 reviewed p.R760L 0.055 58 0% 61 14.8% 0 - possibly_damaging(0.789) tolerated(0.1) deleterious(0.583) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PPP1R12B 4660 genome.wustl.edu 37 1 202411700 202411700 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032105.2 +1 reviewed p.R556M 1.000 190 0% 164 15.2% 2 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL PPP1R12B 4660 genome.wustl.edu 37 1 202418186 202418186 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032105.2 +1 reviewed p.P579 0.018 174 0% 168 18.5% 4 0% - - - NULL KDM5B 10765 genome.wustl.edu 37 1 202698951 202698951 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006618.3 -1 validated p.R1461C 0.740 489 0% 477 17.2% 199 23.1% possibly_damaging(0.804) deleterious(0) deleterious(0.747) NULL KDM5B 10765 genome.wustl.edu 37 1 202702572 202702572 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006618.3 -1 validated p.S1289N 1.000 181 0% 193 16.6% 194 22.6% benign(0) tolerated(0.56) neutral(0.006) NULL KDM5B 10765 genome.wustl.edu 37 1 202704716 202704716 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006618.3 -1 validated e22-1 1.000 205 0% 234 15.8% 0 - - - - - KDM5B 10765 genome.wustl.edu 37 1 202705384 202705384 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006618.3 -1 validated p.V1074A 1.000 176 0.6% 151 23.2% 79 21.5% benign(0) tolerated(1) - HMMPfam_PLU-1 ADIPOR1 51094 genome.wustl.edu 37 1 202915701 202915701 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001127687.1 -1 validated p.V99A 1.000 242 0% 226 13.7% 255 22.3% benign(0.002) tolerated(0.78) neutral(0.001) NULL PPFIA4 8497 genome.wustl.edu 37 1 203015073 203015073 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000367238 +1 known p.K321N 0.777 231 0.4% 168 10.7% 3 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MYOG 4656 genome.wustl.edu 37 1 203055009 203055009 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002479.4 -1 reviewed p.L27 0.993 78 0% 85 18.8% 0 - - - - HMMPfam_Basic,HMMSmart_SM00520 CHI3L1 1116 genome.wustl.edu 37 1 203155740 203155740 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001276.2 -1 reviewed p.K4N 0.145 203 0.5% 162 19.8% 8 0% possibly_damaging(0.602) deleterious(0.03) deleterious(0.573) NULL CHIT1 1118 genome.wustl.edu 37 1 203191412 203191412 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003465.2 -1 reviewed p.G216D 1.000 94 0% 74 23% 5 0% probably_damaging(0.984) deleterious(0.04) deleterious(0.779) HMMPfam_Glyco_hydro_18,HMMSmart_SM00636,superfamily_(Trans)glycosidases ATP2B4 493 genome.wustl.edu 37 1 203677130 203677130 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001684.3 +1 reviewed p.I485 0.179 300 0% 299 19.7% 98 19.3% - - - HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M ATP2B4 493 genome.wustl.edu 37 1 203693059 203693059 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000458092 +1 known p.A12V 0.976 386 0.3% 335 19.1% 124 20.1% - - - HMMPfam_Cation_ATPase_C ATP2B4 493 genome.wustl.edu 37 1 203693072 203693072 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001684.3 +1 reviewed p.L1030M 0.789 379 0% 322 18% 109 22% benign(0.001) tolerated(0.29) neutral(0.029) HMMPfam_Cation_ATPase_C,superfamily_Calcium ATPase transmembrane domain M LAX1 54900 genome.wustl.edu 37 1 203741238 203741238 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017773.3 +1 validated p.S118I 1.000 176 0% 155 11% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ZC3H11A 9877 genome.wustl.edu 37 1 203800873 203800873 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014827.4 +1 validated p.R262M 1.000 81 0% 102 9.8% 103 27.1% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) NULL ZC3H11A 9877 genome.wustl.edu 37 1 203819659 203819659 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014827.4 +1 validated p.N652 0.994 198 0% 231 16% 233 16.3% - - - NULL SOX13 9580 genome.wustl.edu 37 1 204086747 204086747 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005686.2 +1 reviewed p.I229 1.000 48 0% 46 15.2% 47 19.1% - - - NULL ETNK2 55224 genome.wustl.edu 37 1 204115773 204115773 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018208.2 -1 reviewed p.P213H 1.000 88 1.1% 60 16.7% 3 0% benign(0.133) tolerated(0.14) neutral(0.261) HMMPfam_Choline_kinase,superfamily_Kinase_like REN 5972 genome.wustl.edu 37 1 204128671 204128671 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000537.3 -1 reviewed p.A182V 0.000 114 0% 102 18.6% 4 0% benign(0) deleterious(0.01) neutral(0.406) HMMPfam_Asp,superfamily_Acid proteases PLEKHA6 22874 genome.wustl.edu 37 1 204226989 204226989 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014935.2 -1 validated p.R339M 1.000 72 0% 55 21.8% 0 - benign(0.336) deleterious(0.03) deleterious(0.470) NULL MDM4 4194 genome.wustl.edu 37 1 204506581 204506581 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002393.3 +1 validated p.A123T 1.000 207 0% 199 20.6% 9 11.1% possibly_damaging(0.456) tolerated(0.37) neutral(0.168) NULL MDM4 4194 genome.wustl.edu 37 1 204511937 204511937 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002393.3 +1 validated p.A179 0.136 338 0% 321 12.8% 18 27.7% - - - NULL LRRN2 10446 genome.wustl.edu 37 1 204588281 204588281 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006338.2 -1 reviewed p.D280 1.000 148 0% 113 11.5% 6 16.6% - - - HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like LRRN2 10446 genome.wustl.edu 37 1 204588398 204588398 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006338.2 -1 reviewed p.S241 1.000 114 0% 91 14.3% 10 30% - - - HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like NFASC 23114 genome.wustl.edu 37 1 204926891 204926891 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015090.3 +1 reviewed p.A209T 1.000 246 0% 196 12.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 NFASC 23114 genome.wustl.edu 37 1 204945907 204945907 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000367173 +1 known p.P575H 0.998 262 0% 245 16.7% 0 - - - - HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin NFASC 23114 genome.wustl.edu 37 1 204953229 204953229 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015090.3 +1 reviewed p.V845I 1.000 184 0% 166 19.9% 0 - probably_damaging(0.998) tolerated(0.13) deleterious(0.727) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like CNTN2 6900 genome.wustl.edu 37 1 205031628 205031628 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005076.2 +1 reviewed p.G391S 0.998 69 0% 47 14.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 TMCC2 9911 genome.wustl.edu 37 1 205238992 205238992 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014858.3 +1 validated p.C554 1.000 76 0% 51 19.6% 0 - - - - HMMPfam_Tmemb_cc2 NUAK2 81788 genome.wustl.edu 37 1 205272972 205272972 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030952.1 -1 provisional p.R498H 0.998 55 0% 35 22.9% 11 27.2% probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL NUAK2 81788 genome.wustl.edu 37 1 205273272 205273272 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030952.1 -1 provisional p.R398H 0.427 82 0% 66 13.6% 14 21.4% benign(0.002) tolerated(0.07) neutral(0.319) NULL KLHDC8A 55220 genome.wustl.edu 37 1 205312457 205312457 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018203.1 -1 provisional p.L92 1.000 123 0% 82 14.6% 0 - - - - HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central ENSG00000226235 0 genome.wustl.edu 37 1 205351154 205351154 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000447832 +1 known NULL 0.013 32 0% 33 12.1% 0 - - - - - MFSD4 148808 genome.wustl.edu 37 1 205554119 205554119 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181644.4 +1 validated p.T325 1.000 62 0% 60 10% 0 - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter MFSD4 148808 genome.wustl.edu 37 1 205561345 205561345 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181644.4 +1 validated p.S409 0.000 94 0% 89 25.8% 0 - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter SLC41A1 254428 genome.wustl.edu 37 1 205779469 205779469 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173854.4 -1 validated p.A34V 0.997 153 0% 101 20.8% 8 0% benign(0) tolerated(1) - NULL PM20D1 148811 genome.wustl.edu 37 1 205817046 205817046 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152491.4 -1 validated p.A75T 1.000 179 0% 165 14.5% 0 - benign(0.229) deleterious(0.04) neutral(0.372) superfamily_Zn-dependent exopeptidases CTSE 1510 genome.wustl.edu 37 1 206328759 206328759 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001910.2 +1 reviewed p.C276R 1.000 113 0% 107 10.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Asp,superfamily_Pept_Aspartic SRGAP2 23380 genome.wustl.edu 37 1 206611445 206611445 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000414359 +1 known p.V512I 1.000 108 0% 105 19% 19 10.5% benign(0.135) tolerated(0.48) neutral(0.022) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP SRGAP2 23380 genome.wustl.edu 37 1 206634680 206634680 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015326.2 +1 validated p.L959M 0.001 247 0% 245 16.7% 25 32% benign(0) tolerated(0.32) neutral(0.024) NULL IKBKE 9641 genome.wustl.edu 37 1 206650092 206650092 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014002.2 +1 validated p.L204 1.000 61 0% 61 16.4% 9 11.1% - - - superfamily_Kinase_like,HMMPfam_Pkinase IKBKE 9641 genome.wustl.edu 37 1 206665014 206665014 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014002.2 +1 validated p.L589 1.000 82 0% 51 19.6% 5 0% - - - NULL LOC100131192 100131192 genome.wustl.edu 37 1 206711658 206711658 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002342168.1 -1 model p.L22M 0.001 234 0% 215 16.7% 1 0% - - - NULL LGTN 100529141 genome.wustl.edu 37 1 206772395 206772395 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006893.2 -1 reviewed p.Y418 0.760 160 0% 189 20.6% 163 22.6% - - - superfamily_SWIB/MDM2 domain MAPKAPK2 9261 genome.wustl.edu 37 1 206902151 206902151 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032960.2 +1 reviewed p.N126Y 1.000 64 0% 47 10.6% 70 21.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase IL10 3586 genome.wustl.edu 37 1 206944257 206944257 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000572.2 -1 reviewed p.R125C 0.991 191 0% 202 19.3% 0 - benign(0.298) deleterious(0) deleterious(0.536) superfamily_4-helical cytokines,HMMPfam_IL10,HMMSmart_SM00188 IL10 3586 genome.wustl.edu 37 1 206944391 206944391 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000572.2 -1 reviewed p.C80Y 1.000 204 0% 184 20.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_4-helical cytokines,PatternScan_INTERLEUKIN_10,HMMPfam_IL10,HMMSmart_SM00188 IL20 50604 genome.wustl.edu 37 1 207039238 207039238 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018724.3 +1 reviewed p.A14V 0.004 278 0% 310 18.7% 0 - unknown(0) tolerated(1) - HMMPfam_IL10 IL20 50604 genome.wustl.edu 37 1 207039324 207039324 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018724.3 +1 reviewed p.R43* 0.037 305 0.3% 340 11.8% 0 - - - - superfamily_4_helix_cytokine,HMMPfam_IL10,HMMSmart_IL10 FAIM3 9214 genome.wustl.edu 37 1 207085108 207085108 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142472.1 -1 validated p.S226N 0.047 151 0% 125 14.4% 6 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL PIGR 5284 genome.wustl.edu 37 1 207109102 207109102 + Silent SNP C C G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002644.3 -1 reviewed p.V369 0.000 85 0% 49 20.4% 2470 10.7% - - - HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 PFKFB2 5208 genome.wustl.edu 37 1 207235994 207235994 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006212.2 +1 reviewed p.A81S 1.000 402 0% 398 15.3% 13 23% benign(0.007) tolerated(0.31) neutral(0.027) HMMPfam_6PF2K,superfamily_P-loop containing nucleoside triphosphate hydrolases C4BPA 722 genome.wustl.edu 37 1 207317903 207317903 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000715.3 +1 reviewed p.G545 0.884 264 0% 273 16.8% 14 7.1% - - - NULL CD55 1604 genome.wustl.edu 37 1 207504538 207504538 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001114752.1 +1 reviewed p.T250 0.001 320 0% 390 11.5% 84 16.6% - - - HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module CR2 1380 genome.wustl.edu 37 1 207640107 207640107 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001006658.2 +1 reviewed p.G99* 0.605 317 0% 403 20.8% 0 - - - - HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module CR2 1380 genome.wustl.edu 37 1 207643405 207643405 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001006658.2 +1 reviewed p.A395T 0.002 156 0% 226 19.9% 1 0% probably_damaging(0.975) tolerated(0.12) deleterious(0.677) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module CR1 1378 genome.wustl.edu 37 1 207753608 207753608 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000651.4 +1 reviewed p.L1654M 0.233 475 0.4% 566 14.3% 0 - probably_damaging(0.994) tolerated(0.2) deleterious(0.501) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CR1 1378 genome.wustl.edu 37 1 207787835 207787835 + Splice_Site SNP G G A rs55750843 TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000651.4 +1 reviewed e40+1 1.000 166 0% 192 17.2% 0 - - - - - CR1L 1379 genome.wustl.edu 37 1 207867865 207867865 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175710.1 +1 validated p.D211N 0.016 409 0% 493 16% 0 - probably_damaging(0.972) tolerated(0.3) neutral(0.443) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CR1L 1379 genome.wustl.edu 37 1 207890962 207890962 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175710.1 +1 validated p.R523H 0.783 701 0.3% 598 17.2% 0 - benign(0.055) tolerated(0.53) neutral(0.011) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CD46 4179 genome.wustl.edu 37 1 207930538 207930538 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_172359.1 +1 reviewed p.A93T 0.000 448 0% 414 15.5% 214 18.2% benign(0.01) tolerated(0.32) neutral(0.025) HMMSmart_CCP,superfamily_Complement_control_module PLXNA2 5362 genome.wustl.edu 37 1 208205081 208205081 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025179.3 -1 reviewed p.D1693 0.007 36 0% 34 14.7% 18 0% - - - superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl PLXNA2 5362 genome.wustl.edu 37 1 208213029 208213029 + Silent SNP G G A rs188406573 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025179.3 -1 reviewed p.G1479 0.626 72 0% 59 11.9% 5 0% - - - superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl PLXNA2 5362 genome.wustl.edu 37 1 208255840 208255840 + Missense_Mutation SNP C C T rs185488994 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025179.3 -1 reviewed p.G771D 1.000 120 0% 103 21.4% 6 33.3% benign(0.081) deleterious(0.05) neutral(0.351) NULL PLXNA2 5362 genome.wustl.edu 37 1 208315746 208315746 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025179.3 -1 reviewed p.D478 0.976 189 0% 151 13.2% 3 0% - - - HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain PLXNA2 5362 genome.wustl.edu 37 1 208391196 208391196 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025179.3 -1 reviewed p.V24 0.952 87 0% 74 18.9% 4 0% - - - NULL LOC642587 642587 genome.wustl.edu 37 1 209605548 209605548 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001104548.1 +1 validated e3-1 1.000 98 0% 104 17.3% 0 - - - - - CAMK1G 57172 genome.wustl.edu 37 1 209785210 209785210 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020439.2 +1 reviewed p.R330H 0.302 356 0% 271 15.5% 0 - benign(0.011) deleterious(0.01) neutral(0.406) superfamily_Protein kinase-like (PK-like) LAMB3 3914 genome.wustl.edu 37 1 209791834 209791834 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000228.2 -1 reviewed p.R958C 0.395 43 0% 31 12.9% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL LAMB3 3914 genome.wustl.edu 37 1 209803114 209803114 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000228.2 -1 reviewed p.R367H 0.596 135 0% 116 25.9% 3 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,superfamily_SSF57196 LAMB3 3914 genome.wustl.edu 37 1 209803221 209803221 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000228.2 -1 reviewed p.V331 1.000 214 0% 175 14.9% 1 0% - - - HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196 LAMB3 3914 genome.wustl.edu 37 1 209807841 209807841 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000228.2 -1 reviewed p.R172Q 0.904 160 0% 159 11.3% 2 0% probably_damaging(0.999) tolerated(0.3) deleterious(0.519) HMMPfam_Laminin_N,HMMSmart_LamNT,superfamily_Gal_bind_like TRAF3IP3 80342 genome.wustl.edu 37 1 209949017 209949017 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025228.2 +1 reviewed p.R310M 0.700 292 0.3% 238 20.2% 10 0% possibly_damaging(0.449) deleterious(0.02) deleterious(0.530) NULL TRAF3IP3 80342 genome.wustl.edu 37 1 209951481 209951481 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025228.2 +1 reviewed p.E385D 0.979 337 0% 250 14.8% 8 0% probably_damaging(0.99) tolerated(0.32) neutral(0.466) NULL IRF6 3664 genome.wustl.edu 37 1 209964097 209964097 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006147.2 -1 reviewed p.P268L 1.000 267 0% 242 20.7% 38 28.9% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SMAD_FHA,HMMPfam_IRF-3 IRF6 3664 genome.wustl.edu 37 1 209969776 209969776 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006147.2 -1 reviewed p.G99V 1.000 122 0% 133 15.8% 27 29.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IRF,HMMSmart_IRF,superfamily_SSF46785 DIEXF 27042 genome.wustl.edu 37 1 210016891 210016891 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014388.5 +1 validated p.R626H 0.999 236 0% 228 13.2% 45 33.3% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_DUF1253 SERTAD4 56256 genome.wustl.edu 37 1 210415271 210415271 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019605.3 +1 validated p.P220 0.926 348 0% 290 17.9% 9 11.1% - - - NULL SERTAD4 56256 genome.wustl.edu 37 1 210415589 210415589 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019605.3 +1 validated p.N326 0.948 188 0% 181 13.8% 5 0% - - - NULL KCNH1 3756 genome.wustl.edu 37 1 211093264 211093264 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_172362.2 -1 reviewed p.A394S 1.000 555 0.2% 543 10.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels RCOR3 55758 genome.wustl.edu 37 1 211451540 211451540 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001136223.1 +1 validated p.R200C 1.000 471 0% 452 13.5% 34 14.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL INTS7 25896 genome.wustl.edu 37 1 212161248 212161248 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015434.2 -1 provisional p.H326R 1.000 139 0.7% 157 13.4% 18 27.7% benign(0) tolerated(0.16) neutral(0.059) superfamily_ARM repeat DTL 51514 genome.wustl.edu 37 1 212273784 212273784 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016448.2 +1 validated p.G484 0.969 354 0% 334 15.9% 45 33.3% - - - NULL PPP2R5A 5525 genome.wustl.edu 37 1 212530531 212530531 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006243.2 +1 reviewed p.N377 1.000 167 0% 166 13.3% 80 11.2% - - - HMMPfam_B56,superfamily_ARM repeat TMEM206 55248 genome.wustl.edu 37 1 212583799 212583799 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018252.2 -1 validated p.T34M 0.000 1127 0.1% 1074 16.2% 14 28.5% benign(0.038) tolerated(0.14) neutral(0.252) NULL NENF 29937 genome.wustl.edu 37 1 212619233 212619233 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013349.4 +1 reviewed p.A135V 1.000 404 0% 383 18% 276 18.1% possibly_damaging(0.701) tolerated(0.2) neutral(0.301) HMMPfam_Cyt-b5,superfamily_Cyt_B5 FLVCR1 28982 genome.wustl.edu 37 1 213046158 213046158 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014053.2 +1 validated p.Y341C 1.000 183 0% 243 17.7% 16 18.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MFS_1,superfamily_MFS general substrate transporter ANGEL2 90806 genome.wustl.edu 37 1 213168447 213168447 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144567.3 -1 validated p.L524H 1.000 172 0% 147 17.7% 40 30% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Exo_endo_phos,superfamily_DNase I-like SMYD2 56950 genome.wustl.edu 37 1 214492285 214492285 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020197.2 +1 validated p.G165R 0.907 223 0% 189 21.7% 132 19.6% benign(0.061) tolerated(0.28) neutral(0.036) HMMSmart_SET,superfamily_SSF82199 PTPN14 5784 genome.wustl.edu 37 1 214557296 214557296 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005401.4 -1 reviewed p.H634 0.219 70 0% 44 18.2% 12 16.6% - - - NULL PTPN14 5784 genome.wustl.edu 37 1 214557374 214557374 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005401.4 -1 reviewed p.T608 1.000 84 0% 50 12% 4 0% - - - NULL PTPN14 5784 genome.wustl.edu 37 1 214588020 214588020 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005401.4 -1 reviewed p.R132* 0.981 518 0% 615 16.9% 4 0% - - - HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41 PTPN14 5784 genome.wustl.edu 37 1 214625304 214625304 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005401.4 -1 reviewed p.G63D 1.000 173 0.6% 173 12.1% 2 0% probably_damaging(0.984) deleterious(0.01) deleterious(0.836) HMMPfam_FERM_N,HMMSmart_B41,superfamily_SSF54236 PTPN14 5784 genome.wustl.edu 37 1 214637989 214637989 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005401.4 -1 reviewed p.R53M 1.000 111 0% 72 22.2% 3 33.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_FERM_N,HMMSmart_B41,superfamily_SSF54236 PTPN14 5784 genome.wustl.edu 37 1 214638053 214638053 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005401.4 -1 reviewed p.V32I 0.957 142 0.7% 117 14.5% 3 0% possibly_damaging(0.865) tolerated(0.32) neutral(0.359) HMMPfam_FERM_N,HMMSmart_B41,superfamily_SSF54236 PTPN14 5784 genome.wustl.edu 37 1 214638070 214638070 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005401.4 -1 reviewed p.R26H 1.000 157 0% 135 14.1% 4 0% probably_damaging(0.999) tolerated(0.4) deleterious(0.506) HMMPfam_FERM_N,HMMSmart_B41,superfamily_SSF54236 CENPF 1063 genome.wustl.edu 37 1 214794229 214794229 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016343.3 +1 reviewed p.S269G 0.985 409 0% 396 15.9% 3 66.6% benign(0.001) tolerated(0.75) neutral(0.002) HMMPfam_Cenp-F_N CENPF 1063 genome.wustl.edu 37 1 214803896 214803896 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016343.3 +1 reviewed p.R405H 0.393 794 0% 854 17.1% 7 0% probably_damaging(0.995) tolerated(0.06) deleterious(0.780) NULL CENPF 1063 genome.wustl.edu 37 1 214815000 214815000 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016343.3 +1 reviewed p.Q1107* 0.117 209 0% 228 14.5% 8 0% - - - NULL CENPF 1063 genome.wustl.edu 37 1 214818844 214818844 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016343.3 +1 reviewed p.L1977 0.019 250 0% 306 16.7% 17 29.4% - - - NULL CENPF 1063 genome.wustl.edu 37 1 214825072 214825072 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016343.3 +1 reviewed p.T2668I 0.001 637 0% 711 13.5% 24 12.5% benign(0) tolerated(0.42) neutral(0.014) NULL CENPF 1063 genome.wustl.edu 37 1 214830482 214830482 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016343.3 +1 reviewed p.R2898* 0.000 897 0.1% 889 14.4% 47 2.1% - - - NULL KCNK2 3776 genome.wustl.edu 37 1 215259762 215259762 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001017425.2 +1 reviewed p.P33L 1.000 155 0% 121 14.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL KCTD3 51133 genome.wustl.edu 37 1 215747460 215747460 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000448333 +1 known p.C33* 1.000 181 0% 139 12.9% 18 33.3% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain KCTD3 51133 genome.wustl.edu 37 1 215752442 215752442 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016121.3 +1 validated p.P166H 0.999 148 0% 190 16.3% 32 28.1% probably_damaging(0.983) deleterious(0.01) deleterious(0.835) NULL KCTD3 51133 genome.wustl.edu 37 1 215775447 215775447 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016121.3 +1 validated p.R348* 0.974 212 0.5% 178 17.4% 42 2.3% - - - superfamily_WD40 repeat-like KCTD3 51133 genome.wustl.edu 37 1 215777552 215777552 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016121.3 +1 validated p.T406I 1.000 314 0% 292 18.8% 65 20% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_WD40 repeat-like USH2A 7399 genome.wustl.edu 37 1 215813951 215813951 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_206933.2 -1 reviewed p.V4973M 0.016 110 0% 92 21.7% 0 - possibly_damaging(0.492) deleterious(0.04) deleterious(0.513) NULL USH2A 7399 genome.wustl.edu 37 1 215824020 215824020 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_206933.2 -1 reviewed p.V4753I 1.000 236 0% 211 15.2% 0 - probably_damaging(0.954) tolerated(0.13) deleterious(0.650) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 215844415 215844415 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_206933.2 -1 reviewed p.A4678T 0.002 625 0% 668 14.5% 0 - benign(0) tolerated(0.65) neutral(0.003) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 215848075 215848075 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_206933.2 -1 reviewed p.Y4393F 0.000 341 0% 400 14.5% 0 - benign(0) tolerated(0.69) neutral(0.002) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 215940079 215940079 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_206933.2 -1 reviewed p.A3664D 1.000 361 0.3% 368 15.5% 0 - probably_damaging(0.995) tolerated(0.1) deleterious(0.744) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 216011345 216011345 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_206933.2 -1 reviewed p.G3120D 0.000 270 0% 328 16.5% 0 - benign(0.003) tolerated(0.08) neutral(0.300) HMMSmart_SM00060,superfamily_Fibronectin type III USH2A 7399 genome.wustl.edu 37 1 216256830 216256830 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_206933.2 -1 reviewed p.V1756I 0.472 530 0.2% 721 15.3% 0 - benign(0) tolerated(0.65) neutral(0.003) HMMSmart_SM00282,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 USH2A 7399 genome.wustl.edu 37 1 216390784 216390784 + Silent SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_206933.2 -1 reviewed p.A1034 0.000 211 0% 254 16.9% 0 - - - - HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_Concanavalin A-like lectins/glucanases,superfamily_EGF/Laminin ESRRG 2104 genome.wustl.edu 37 1 216680330 216680330 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001438.2 -1 validated p.K443R 1.000 423 0% 411 15.6% 1 0% benign(0.001) tolerated(0.38) neutral(0.018) HMMPfam_Hormone_recep,superfamily_Nuclear receptor ligand-binding domain ESRRG 2104 genome.wustl.edu 37 1 216741391 216741391 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001438.2 -1 validated p.R213S 1.000 103 0% 110 14.5% 3 0% probably_damaging(1) tolerated(0.21) deleterious(0.544) superfamily_Nuclear receptor ligand-binding domain GPATCH2 55105 genome.wustl.edu 37 1 217783721 217783721 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018040.2 -1 provisional p.R347H 1.000 352 0% 414 18.1% 11 27.2% benign(0.015) tolerated(0.26) neutral(0.035) NULL RRP15 51018 genome.wustl.edu 37 1 218458779 218458779 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016052.3 +1 reviewed p.D41Y 0.008 106 0% 101 14.9% 36 41.6% possibly_damaging(0.496) deleterious(0.01) deleterious(0.571) NULL TGFB2 7042 genome.wustl.edu 37 1 218578622 218578622 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001135599.1 +1 validated p.R181H 1.000 929 0.2% 940 16.1% 16 6.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TGFb_propeptide LYPLAL1 127018 genome.wustl.edu 37 1 219366582 219366582 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138794.3 +1 validated p.R117M 1.000 135 0% 200 18% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Abhydrolase_2,superfamily_alpha/beta-Hydrolases LYPLAL1 127018 genome.wustl.edu 37 1 219384885 219384885 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138794.3 +1 validated p.T177A 0.739 297 0% 387 16.3% 6 33.3% benign(0.017) tolerated(0.49) neutral(0.011) HMMPfam_Abhydrolase_2,superfamily_alpha/beta-Hydrolases EPRS 2058 genome.wustl.edu 37 1 220146601 220146601 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004446.2 -1 reviewed p.I1408T 1.000 400 0% 424 17.7% 532 21.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Anticodon_bd EPRS 2058 genome.wustl.edu 37 1 220170683 220170683 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004446.2 -1 reviewed p.T728I 0.002 208 0% 210 14.3% 199 28.6% benign(0.002) tolerated(0.24) neutral(0.037) NULL IARS2 55699 genome.wustl.edu 37 1 220279392 220279392 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018060.3 +1 validated p.N409S 0.994 299 0% 317 15.5% 191 18.8% benign(0) tolerated(0.18) neutral(0.056) HMMPfam_tRNA-synt_1,superfamily_ValRS/IleRS/LeuRS editing domain,superfamily_Nucleotidylyl transferase RAB3GAP2 25782 genome.wustl.edu 37 1 220324641 220324641 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012414.3 -1 reviewed p.A1378 1.000 262 0% 264 17.4% 38 10.5% - - - NULL RAB3GAP2 25782 genome.wustl.edu 37 1 220368647 220368647 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012414.3 -1 reviewed p.A345T 1.000 760 0% 791 15.4% 17 17.6% possibly_damaging(0.756) tolerated(0.08) deleterious(0.579) NULL RAB3GAP2 25782 genome.wustl.edu 37 1 220369721 220369721 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012414.3 -1 reviewed p.P277 0.897 484 0% 556 14.4% 13 30.7% - - - NULL MARK1 4139 genome.wustl.edu 37 1 220791712 220791712 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018650.3 +1 validated p.N205D 1.000 227 0% 209 15.8% 20 35% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase MARK1 4139 genome.wustl.edu 37 1 220826578 220826578 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018650.3 +1 validated p.S624 0.984 213 0% 192 16.1% 27 33.3% - - - NULL MARC2 54996 genome.wustl.edu 37 1 220953411 220953411 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017898.3 +1 provisional p.A268T 0.025 302 0% 289 15.6% 36 13.8% benign(0.182) tolerated(0.1) neutral(0.303) HMMPfam_MOSC,superfamily_PK beta-barrel domain-like MARC1 64757 genome.wustl.edu 37 1 220969993 220969993 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022746.3 +1 validated p.G153D 0.574 104 0% 78 10.3% 89 24.7% benign(0.17) tolerated(0.13) neutral(0.268) HMMPfam_MOSC_N,superfamily_PK beta-barrel domain-like HHIPL2 79802 genome.wustl.edu 37 1 222717215 222717215 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024746.3 -1 validated p.A213D 1.000 65 0% 87 10.3% 0 - probably_damaging(0.999) tolerated(0.12) deleterious(0.751) superfamily_Quino_gluc_DH TAF1A 9015 genome.wustl.edu 37 1 222732051 222732051 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005681.2 -1 reviewed p.R435Q 0.336 263 0.4% 254 13% 3 0% benign(0.057) tolerated(0.38) neutral(0.021) NULL MIA3 375056 genome.wustl.edu 37 1 222802010 222802010 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198551.2 +1 validated p.T483I 0.000 475 0.2% 458 17.9% 30 23.3% benign(0.026) deleterious(0.02) neutral(0.384) NULL MIA3 375056 genome.wustl.edu 37 1 222802291 222802291 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198551.2 +1 validated p.L577M 0.000 251 0% 235 14% 28 17.8% benign(0.127) tolerated(0.11) neutral(0.282) NULL MIA3 375056 genome.wustl.edu 37 1 222803003 222803003 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198551.2 +1 validated p.R814H 0.001 190 0% 218 16.1% 47 23.4% possibly_damaging(0.738) tolerated(0.46) neutral(0.282) NULL MIA3 375056 genome.wustl.edu 37 1 222803358 222803358 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000354906 +1 known p.T515A 0.000 252 0% 257 15.6% 41 24.3% - - - NULL MIA3 375056 genome.wustl.edu 37 1 222818994 222818994 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000354906 +1 known p.V775I 0.006 112 1.8% 122 15.6% 62 29% - - - NULL MIA3 375056 genome.wustl.edu 37 1 222838804 222838804 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198551.2 +1 validated p.P1856H 0.997 829 0.2% 840 14.9% 169 23.6% probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL BROX 148362 genome.wustl.edu 37 1 222895810 222895810 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144695.2 +1 validated p.A119T 1.000 118 0% 113 14.2% 55 29% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_BRO1 BROX 148362 genome.wustl.edu 37 1 222903411 222903411 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144695.2 +1 validated p.T294I 1.000 447 0% 506 15% 72 15.2% benign(0.391) tolerated(0.06) neutral(0.448) HMMPfam_BRO1 BROX 148362 genome.wustl.edu 37 1 222904820 222904820 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144695.2 +1 validated p.A371T 0.999 378 0% 378 16.7% 83 21.6% benign(0.002) tolerated(0.35) neutral(0.021) HMMPfam_BRO1 DISP1 84976 genome.wustl.edu 37 1 223168326 223168326 + Splice_Site SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032890.2 +1 reviewed e6+2 1.000 521 0% 519 17.7% 0 - - - - - DISP1 84976 genome.wustl.edu 37 1 223178519 223178519 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032890.2 +1 reviewed p.T1260 0.016 223 0% 193 13% 16 18.7% - - - NULL C1orf65 164127 genome.wustl.edu 37 1 223568233 223568233 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152610.2 +1 validated p.R472 0.003 87 0% 65 24.6% 0 - - - - NULL CAPN2 824 genome.wustl.edu 37 1 223939752 223939752 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001748.4 +1 reviewed p.R318Q 0.012 202 0% 118 17.8% 115 36.5% benign(0.01) tolerated(0.68) neutral(0.003) HMMPfam_Peptidase_C2,HMMSmart_SM00230,superfamily_Cysteine proteinases CAPN2 824 genome.wustl.edu 37 1 223940573 223940573 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001748.4 +1 reviewed p.S350 0.029 114 0% 84 11.9% 98 20.4% - - - HMMSmart_SM00230,superfamily_Cysteine proteinases TP53BP2 7159 genome.wustl.edu 37 1 223971970 223971970 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001031685.2 -1 reviewed p.A1070 0.000 233 0% 232 18.5% 35 22.8% - - - HMMPfam_SH3_1,HMMSmart_SH3,superfamily_ANK TP53BP2 7159 genome.wustl.edu 37 1 223985970 223985970 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001031685.2 -1 reviewed p.A632V 0.974 343 0.6% 371 14.6% 73 13.6% benign(0.002) deleterious(0.02) neutral(0.383) NULL TP53BP2 7159 genome.wustl.edu 37 1 223991924 223991924 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001031685.2 -1 reviewed p.A201S 1.000 459 0% 505 15.6% 23 4.3% probably_damaging(0.992) deleterious(0.02) deleterious(0.831) NULL DEGS1 8560 genome.wustl.edu 37 1 224377312 224377312 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003676.2 +1 reviewed p.P39H 1.000 301 0% 277 15.9% 28 35.7% benign(0.042) tolerated(0.65) neutral(0.005) HMMPfam_Lipid_DES DEGS1 8560 genome.wustl.edu 37 1 224377686 224377686 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003676.2 +1 reviewed p.I164V 0.998 418 0% 430 16.5% 61 13.1% benign(0) tolerated(1) - HMMPfam_FA_desaturase DEGS1 8560 genome.wustl.edu 37 1 224377819 224377819 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003676.2 +1 reviewed p.S208Y 1.000 416 0% 394 14% 95 20% possibly_damaging(0.76) tolerated(0.16) neutral(0.341) HMMPfam_FA_desaturase NVL 4931 genome.wustl.edu 37 1 224468866 224468866 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000469968 -1 known p.T523I 1.000 166 0% 213 17.4% 35 14.2% - - - HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases WDR26 80232 genome.wustl.edu 37 1 224586687 224586687 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025160.6 -1 reviewed p.C343Y 1.000 337 0% 349 17.2% 123 15.4% probably_damaging(0.958) deleterious(0.04) deleterious(0.750) superfamily_WD40 repeat-like CNIH3 149111 genome.wustl.edu 37 1 224804946 224804946 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152495.1 +1 provisional p.A24T 1.000 298 0% 221 16.7% 0 - benign(0.248) tolerated(0.38) neutral(0.043) HMMPfam_Cornichon LBR 3930 genome.wustl.edu 37 1 225605798 225605798 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002296.2 -1 reviewed p.N242I 0.000 296 0% 306 25.5% 100 27% benign(0.01) tolerated(0.14) neutral(0.250) HMMPfam_ERG4_ERG24 TMEM63A 9725 genome.wustl.edu 37 1 226054322 226054322 + Silent SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014698.2 -1 validated p.G209 1.000 145 0% 89 13.5% 43 34.8% - - - NULL LEFTY1 10637 genome.wustl.edu 37 1 226074576 226074576 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020997.2 -1 reviewed p.A318T 0.793 36 0% 35 22.9% 5 0% possibly_damaging(0.88) tolerated(0.11) deleterious(0.615) HMMSmart_TGFB,superfamily_SSF57501 PARP1 142 genome.wustl.edu 37 1 226573319 226573319 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001618.3 -1 reviewed p.S299 0.001 180 0% 173 16.8% 212 24.5% - - - HMMPfam_PADR1 ITPKB 3707 genome.wustl.edu 37 1 226822416 226822416 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002221.3 -1 reviewed p.V933I 1.000 26 0% 27 25.9% 23 26% benign(0) tolerated(1) - HMMPfam_IPK,superfamily_SAICAR synthase-like ADCK3 56997 genome.wustl.edu 37 1 227171272 227171272 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020247.4 +1 reviewed p.S367I 1.000 40 0% 29 24.1% 44 6.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC1,superfamily_Protein kinase-like (PK-like) ADCK3 56997 genome.wustl.edu 37 1 227172580 227172580 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020247.4 +1 reviewed p.A504T 1.000 37 0% 46 21.7% 32 31.2% benign(0) tolerated(0.51) neutral(0.009) superfamily_Protein kinase-like (PK-like) CDC42BPA 8476 genome.wustl.edu 37 1 227198596 227198596 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000334218 -1 known p.S1641G 0.998 67 0% 54 20.4% 0 - benign(0.235) tolerated(0.18) neutral(0.080) NULL CDC42BPA 8476 genome.wustl.edu 37 1 227219123 227219123 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000442054 -1 known p.A511T 0.990 486 0.2% 493 16.4% 21 28.5% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like CDC42BPA 8476 genome.wustl.edu 37 1 227222418 227222418 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000442054 -1 known p.R432* 0.529 275 0% 265 19.6% 28 35.7% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like PRSS38 339501 genome.wustl.edu 37 1 228004928 228004928 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_183062.2 +1 validated p.I110 0.000 104 0% 78 19.2% 0 - - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys ARF1 375 genome.wustl.edu 37 1 228284888 228284888 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001024226.1 +1 reviewed p.L25M 1.000 120 0.8% 99 20.2% 976 21.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00175,HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases OBSCN 84033 genome.wustl.edu 37 1 228402134 228402134 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098623.1 +1 reviewed p.S506 0.018 75 0% 55 20% 0 - - - - HMMSmart_SM00409,superfamily_Immunoglobulin OBSCN 84033 genome.wustl.edu 37 1 228412196 228412196 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098623.1 +1 reviewed p.R897H 0.000 124 0% 100 15% 0 - benign(0.005) - - HMMSmart_SM00409,superfamily_Immunoglobulin OBSCN 84033 genome.wustl.edu 37 1 228434478 228434478 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098623.1 +1 reviewed p.R1336Q 0.046 192 0% 181 19.3% 1 0% benign(0.034) - - HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin OBSCN 84033 genome.wustl.edu 37 1 228437883 228437883 + Silent SNP C C T rs35326243 TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098623.1 +1 reviewed p.T1417 0.038 104 0% 97 18.6% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin OBSCN 84033 genome.wustl.edu 37 1 228456342 228456342 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098623.1 +1 reviewed p.T1658M 0.637 26 0% 29 20.7% 0 - benign(0) tolerated(0.12) neutral(0.261) HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin OBSCN 84033 genome.wustl.edu 37 1 228466560 228466560 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098623.1 +1 reviewed p.R2344C 1.000 49 0% 36 22.2% 1 0% probably_damaging(1) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin OBSCN 84033 genome.wustl.edu 37 1 228471259 228471259 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098623.1 +1 reviewed p.G2931 0.684 83 0% 56 10.7% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin OBSCN 84033 genome.wustl.edu 37 1 228471333 228471333 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098623.1 +1 reviewed p.R2956Q 0.002 58 0% 59 28.8% 5 40% possibly_damaging(0.626) tolerated(0.32) neutral(0.242) HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin OBSCN 84033 genome.wustl.edu 37 1 228482668 228482668 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098623.1 +1 reviewed p.G3861 0.001 367 0.3% 267 13.9% 3 0% - - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin OBSCN 84033 genome.wustl.edu 37 1 228494959 228494959 + Splice_Site SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098623.1 +1 reviewed e46-1 1.000 101 0% 84 23.8% 0 - - - - - TRIM11 81559 genome.wustl.edu 37 1 228582498 228582498 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145214.2 -1 reviewed p.R439W 0.742 67 0% 55 25.5% 103 28.1% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_SPRY,HMMSmart_SM00449 RAB4A 5867 genome.wustl.edu 37 1 229438717 229438717 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004578.2 +1 provisional p.G217V 1.000 226 0% 201 17.4% 140 20.7% benign(0.001) tolerated(0.11) neutral(0.272) HMMSmart_SM00176 ACTA1 58 genome.wustl.edu 37 1 229567470 229567470 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001100.3 -1 reviewed p.K330E 1.000 49 0% 29 20.7% 1 100% benign(0.009) deleterious(0) neutral(0.445) HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain NUP133 55746 genome.wustl.edu 37 1 229600611 229600611 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018230.2 -1 reviewed p.P771T 0.138 248 0.4% 244 15.6% 47 21.2% possibly_damaging(0.514) tolerated(0.25) neutral(0.210) HMMPfam_Nup133 NUP133 55746 genome.wustl.edu 37 1 229601165 229601165 + Splice_Site SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018230.2 -1 reviewed e17+2 0.999 307 0% 325 15.4% 0 - - - - - NUP133 55746 genome.wustl.edu 37 1 229623327 229623327 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018230.2 -1 reviewed p.P410S 1.000 383 0% 392 14.3% 41 34.1% probably_damaging(1) tolerated(0.32) deleterious(0.524) HMMPfam_Nup133_N ABCB10 23456 genome.wustl.edu 37 1 229653992 229653992 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012089.2 -1 reviewed p.E717D 0.960 203 0% 212 16% 33 18.1% benign(0.145) tolerated(0.2) neutral(0.061) superfamily_SSF52540 TAF5L 27097 genome.wustl.edu 37 1 229738365 229738365 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014409.3 -1 reviewed p.N183 1.000 305 0% 297 19.5% 40 10% - - - HMMPfam_TFIID_90kDa URB2 9816 genome.wustl.edu 37 1 229771711 229771711 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014777.2 +1 provisional p.A451T 0.018 154 0% 148 18.9% 16 25% benign(0.058) tolerated(0.31) neutral(0.030) NULL URB2 9816 genome.wustl.edu 37 1 229772402 229772402 + Missense_Mutation SNP A A C rs78745401 byCluster;byFrequency;by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014777.2 +1 provisional p.K681T 0.994 292 0% 285 19.3% 13 23% possibly_damaging(0.454) deleterious(0.01) deleterious(0.554) NULL URB2 9816 genome.wustl.edu 37 1 229773133 229773133 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014777.2 +1 provisional p.A925T 0.629 269 0.4% 286 15.7% 20 20% probably_damaging(0.984) deleterious(0.04) deleterious(0.779) NULL GALNT2 2590 genome.wustl.edu 37 1 230372099 230372099 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004481.3 +1 reviewed p.S158 0.988 100 0% 102 26.5% 36 22.2% - - - HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases GALNT2 2590 genome.wustl.edu 37 1 230381839 230381839 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004481.3 +1 reviewed p.D254N 1.000 144 0% 129 17.1% 48 14.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases AGT 183 genome.wustl.edu 37 1 230846067 230846067 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000029.3 -1 reviewed p.A177V 0.880 88 0% 68 13.2% 1 0% probably_damaging(0.975) deleterious(0.01) deleterious(0.823) HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins CAPN9 10753 genome.wustl.edu 37 1 230916339 230916339 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006615.2 +1 reviewed p.S456T 1.000 369 0% 374 14.4% 0 - probably_damaging(0.967) tolerated(0.34) neutral(0.432) HMMPfam_Calpain_III,HMMSmart_SM00720,superfamily_Calpain large subunit middle domain (domain III) TTC13 79573 genome.wustl.edu 37 1 231047268 231047268 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024525.4 -1 validated p.L753V 1.000 280 0% 279 21.5% 13 30.7% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL TTC13 79573 genome.wustl.edu 37 1 231047291 231047291 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024525.4 -1 validated p.A745D 1.000 241 0% 249 15.3% 16 37.5% benign(0.174) tolerated(0.06) neutral(0.339) NULL TTC13 79573 genome.wustl.edu 37 1 231048425 231048425 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024525.4 -1 validated p.L725I 1.000 957 0% 915 16.2% 18 22.2% benign(0.03) tolerated(0.45) neutral(0.013) NULL TRIM67 440730 genome.wustl.edu 37 1 231344803 231344803 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004342.3 +1 validated p.A644S 1.000 224 0% 203 13.3% 0 - benign(0.003) deleterious(0.05) neutral(0.345) superfamily_Concanavalin A-like lectins/glucanases GNPAT 8443 genome.wustl.edu 37 1 231396350 231396350 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014236.3 +1 reviewed p.R120Q 1.000 793 0.1% 825 14.8% 120 19.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GNPAT 8443 genome.wustl.edu 37 1 231402043 231402043 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014236.3 +1 reviewed p.K315N 0.318 144 0% 154 17.5% 120 22.5% benign(0.269) tolerated(0.17) neutral(0.087) superfamily_SSF69593 TSNAX 7257 genome.wustl.edu 37 1 231678213 231678213 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000413309 +1 known p.Y82H 0.097 234 0% 262 13% 1 0% unknown(0) tolerated(0.56) - HMMPfam_Translin,superfamily_Translin DISC1 27185 genome.wustl.edu 37 1 231829600 231829600 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018662.2 +1 reviewed p.A32 0.000 108 0.9% 106 17% 0 - - - - NULL DISC1 27185 genome.wustl.edu 37 1 232002269 232002269 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001012959.1 +1 reviewed p.G661E 0.000 109 0% 112 16.1% 0 - probably_damaging(0.997) tolerated(1) neutral(0.466) NULL SIPA1L2 57568 genome.wustl.edu 37 1 232596889 232596889 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020808.3 -1 validated p.E947K 1.000 407 0% 362 19.3% 72 18% probably_damaging(0.994) deleterious(0.03) deleterious(0.817) superfamily_PDZ domain-like SIPA1L2 57568 genome.wustl.edu 37 1 232600652 232600652 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020808.3 -1 validated p.E918D 1.000 196 0% 173 11.6% 61 19.6% benign(0.009) tolerated(0.39) neutral(0.017) NULL KIAA1383 54627 genome.wustl.edu 37 1 232940870 232940870 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019090.2 +1 validated p.T34I 0.000 397 0% 274 14.6% 0 - unknown(0) - - NULL KIAA1383 54627 genome.wustl.edu 37 1 232941971 232941971 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019090.2 +1 validated p.V401A 0.000 566 0.2% 447 15% 0 - benign(0.258) tolerated(0.32) neutral(0.051) NULL KIAA1383 54627 genome.wustl.edu 37 1 232942913 232942913 + Missense_Mutation SNP G G C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019090.2 +1 validated p.S715T 0.000 102 0% 76 18.4% 1 0% benign(0.004) tolerated(0.2) neutral(0.049) NULL PCNXL2 80003 genome.wustl.edu 37 1 233160963 233160963 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014801.3 -1 provisional p.L1512M 0.618 233 0.4% 197 10.7% 7 14.2% benign(0.001) tolerated(0.07) neutral(0.319) NULL PCNXL2 80003 genome.wustl.edu 37 1 233225835 233225835 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014801.3 -1 provisional p.P1350S 1.000 212 0.5% 200 14.5% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PCNXL2 80003 genome.wustl.edu 37 1 233231597 233231597 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014801.3 -1 provisional p.L1284I 1.000 168 0% 154 16.2% 8 62.5% probably_damaging(0.998) tolerated(0.08) deleterious(0.774) PatternScan_DNAJ_1 TARBP1 6894 genome.wustl.edu 37 1 234582575 234582575 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005646.3 -1 reviewed p.R703M 0.001 304 0% 329 17% 16 12.5% benign(0) tolerated(0.23) neutral(0.042) NULL IRF2BP2 359948 genome.wustl.edu 37 1 234743334 234743334 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182972.2 -1 reviewed p.S438I 1.000 85 0% 59 18.6% 401 19.9% benign(0.001) tolerated(0.09) neutral(0.296) NULL ARID4B 51742 genome.wustl.edu 37 1 235345770 235345770 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016374.5 -1 reviewed p.R822C 1.000 446 0% 489 19.2% 26 23% probably_damaging(0.991) deleterious(0.04) deleterious(0.793) NULL TBCE 6905 genome.wustl.edu 37 1 235543435 235543435 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001079515.1 +1 reviewed p.R24H 0.990 113 0% 99 16.2% 38 26.3% possibly_damaging(0.58) tolerated(0.07) deleterious(0.518) HMMPfam_CAP_GLY TBCE 6905 genome.wustl.edu 37 1 235564889 235564889 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001079515.1 +1 reviewed p.Y58H 1.000 249 0% 279 16.5% 20 15% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1,superfamily_SSF52047 TBCE 6905 genome.wustl.edu 37 1 235600762 235600762 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001079515.1 +1 reviewed p.G363 0.293 144 0% 142 17.6% 54 20.3% - - - superfamily_SSF52047 B3GALNT2 148789 genome.wustl.edu 37 1 235643393 235643393 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152490.2 -1 validated p.V210M 1.000 128 0% 157 17.2% 50 34% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL LYST 1130 genome.wustl.edu 37 1 235878639 235878639 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000081.2 -1 reviewed p.R3216C 1.000 117 0% 132 15.9% 5 0% possibly_damaging(0.545) - - HMMPfam_Beach,superfamily_BEACH domain LYST 1130 genome.wustl.edu 37 1 235884030 235884030 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000081.2 -1 reviewed p.P3164H 1.000 297 0% 366 16.9% 5 0% probably_damaging(1) - - HMMPfam_Beach,superfamily_BEACH domain LYST 1130 genome.wustl.edu 37 1 235894359 235894359 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000081.2 -1 reviewed p.L2974I 1.000 342 0% 381 15.5% 0 - probably_damaging(0.999) - - NULL LYST 1130 genome.wustl.edu 37 1 235894438 235894438 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000081.2 -1 reviewed p.W2947* 1.000 285 0% 324 16.7% 2 0% - - - NULL LYST 1130 genome.wustl.edu 37 1 235916465 235916465 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000081.2 -1 reviewed p.A2447T 0.884 300 0% 372 14% 4 75% benign(0.019) - - NULL LYST 1130 genome.wustl.edu 37 1 235940529 235940529 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000081.2 -1 reviewed p.Q1765R 0.976 266 0% 383 14.9% 0 - possibly_damaging(0.904) - - NULL LYST 1130 genome.wustl.edu 37 1 235952058 235952058 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000081.2 -1 reviewed p.S1544F 1.000 147 0% 166 16.9% 0 - probably_damaging(1) - - NULL LYST 1130 genome.wustl.edu 37 1 235955161 235955161 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000081.2 -1 reviewed p.L1461M 1.000 274 0% 335 18.8% 2 100% possibly_damaging(0.9) - - NULL LYST 1130 genome.wustl.edu 37 1 235969359 235969359 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000081.2 -1 reviewed p.R1026I 0.011 443 0.2% 514 17.9% 0 - possibly_damaging(0.837) deleterious(0.01) deleterious(0.725) NULL LYST 1130 genome.wustl.edu 37 1 235972036 235972036 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000081.2 -1 reviewed p.K694N 1.000 164 0% 206 11.7% 1 100% benign(0.069) tolerated(0.1) neutral(0.291) NULL LYST 1130 genome.wustl.edu 37 1 235972332 235972332 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000081.2 -1 reviewed p.L596F 1.000 372 0% 415 16.4% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL NID1 4811 genome.wustl.edu 37 1 236144973 236144973 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002508.2 -1 reviewed p.R1055 1.000 257 0% 280 15.4% 12 0% - - - HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain NID1 4811 genome.wustl.edu 37 1 236212038 236212038 + Silent SNP G G T rs6665008 byCluster;byFrequency;by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002508.2 -1 reviewed p.S159 0.211 86 0% 71 31% 3 0% - - - HMMSmart_SM00539 GPR137B 7107 genome.wustl.edu 37 1 236306311 236306311 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003272.3 +1 validated p.T130M 1.000 116 0% 78 17.9% 8 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL GPR137B 7107 genome.wustl.edu 37 1 236343323 236343323 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003272.3 +1 validated p.D278Y 1.000 248 0% 216 12.5% 3 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL LGALS8 3964 genome.wustl.edu 37 1 236711328 236711328 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006499.3 +1 reviewed p.D316G 0.961 326 0% 298 14.1% 17 5.8% possibly_damaging(0.94) deleterious(0.03) deleterious(0.750) HMMPfam_Gal-bind_lectin,HMMSmart_GLECT,superfamily_ConA_like_lec_gl LGALS8 3964 genome.wustl.edu 37 1 236711387 236711387 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006499.3 +1 reviewed p.F336I 0.496 265 0% 268 19.8% 12 33.3% benign(0.283) tolerated(0.65) neutral(0.090) HMMPfam_Gal-bind_lectin,HMMSmart_GLECT,superfamily_ConA_like_lec_gl HEATR1 55127 genome.wustl.edu 37 1 236716994 236716994 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018072.4 -1 validated p.T2042A 0.982 297 0% 302 16.6% 87 20.6% benign(0.001) tolerated(0.73) neutral(0.002) superfamily_ARM-type_fold HEATR1 55127 genome.wustl.edu 37 1 236739572 236739572 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018072.4 -1 validated p.P1011T 1.000 434 0% 434 15% 37 18.9% possibly_damaging(0.482) deleterious(0.02) deleterious(0.543) superfamily_ARM-type_fold HEATR1 55127 genome.wustl.edu 37 1 236748458 236748458 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018072.4 -1 validated p.T703M 0.991 262 0% 296 16.6% 17 11.7% possibly_damaging(0.949) deleterious(0.01) deleterious(0.798) NULL ACTN2 88 genome.wustl.edu 37 1 236889312 236889312 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001103.2 +1 reviewed p.F176 1.000 210 0% 196 20.4% 0 - - - - HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain ACTN2 88 genome.wustl.edu 37 1 236907957 236907957 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001103.2 +1 reviewed p.Y429 0.979 56 0% 47 19.1% 0 - - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat ACTN2 88 genome.wustl.edu 37 1 236914809 236914809 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001103.2 +1 reviewed p.P566S 1.000 118 0% 112 19.6% 0 - benign(0) tolerated(0.44) neutral(0.013) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat ACTN2 88 genome.wustl.edu 37 1 236914925 236914925 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001103.2 +1 reviewed p.M604I 1.000 126 0% 124 19.4% 0 - benign(0) tolerated(0.39) neutral(0.016) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat ACTN2 88 genome.wustl.edu 37 1 236920785 236920785 + Splice_Site SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001103.2 +1 reviewed e18-1 1.000 202 0% 195 18.5% 0 - - - - - ACTN2 88 genome.wustl.edu 37 1 236920825 236920825 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001103.2 +1 reviewed p.A732T 1.000 189 0% 199 10.1% 0 - benign(0.332) tolerated(0.56) neutral(0.111) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat MTR 4548 genome.wustl.edu 37 1 236987492 236987492 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000254.2 +1 reviewed p.A280S 1.000 286 0% 365 14% 10 40% unknown(0) tolerated(0.12) - HMMPfam_S-methyl_trans,superfamily_Homocysteine S-methyltransferase MTR 4548 genome.wustl.edu 37 1 237052542 237052542 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000254.2 +1 reviewed p.D971 1.000 212 0% 165 14.5% 13 23% - - - superfamily_Methionine synthase activation domain-like RYR2 6262 genome.wustl.edu 37 1 237604720 237604720 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001035.2 +1 reviewed p.G369 1.000 415 0% 493 17.6% 0 - - - - HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMSmart_SM00472 RYR2 6262 genome.wustl.edu 37 1 237608721 237608721 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001035.2 +1 reviewed p.G397 0.120 465 0.2% 571 18% 0 - - - - HMMPfam_MIR,superfamily_MIR domain (Pfam 02815) RYR2 6262 genome.wustl.edu 37 1 237659930 237659930 + Missense_Mutation SNP G G A rs190787113 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001035.2 +1 reviewed p.R694Q 0.986 180 0.6% 169 17.8% 1 0% probably_damaging(0.994) - - HMMPfam_SPRY,HMMSmart_SM00449 RYR2 6262 genome.wustl.edu 37 1 237666794 237666794 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001035.2 +1 reviewed p.D868N 1.000 251 0% 207 17.9% 2 0% possibly_damaging(0.923) - - HMMPfam_RyR RYR2 6262 genome.wustl.edu 37 1 237711849 237711849 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001035.2 +1 reviewed p.R1009W 1.000 104 0% 97 12.4% 0 - probably_damaging(0.994) - - HMMPfam_RyR RYR2 6262 genome.wustl.edu 37 1 237729921 237729921 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001035.2 +1 reviewed p.A1090V 0.478 146 0% 156 16% 0 - benign(0) - - NULL RYR2 6262 genome.wustl.edu 37 1 237754197 237754197 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001035.2 +1 reviewed p.V1355 0.000 303 0% 321 19% 0 - - - - NULL RYR2 6262 genome.wustl.edu 37 1 237777601 237777601 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001035.2 +1 reviewed p.Y1725H 1.000 253 0% 235 17% 0 - benign(0.095) - - NULL RYR2 6262 genome.wustl.edu 37 1 237778057 237778057 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001035.2 +1 reviewed p.G1877* 1.000 224 0% 211 11.8% 1 0% - - - NULL RYR2 6262 genome.wustl.edu 37 1 237798227 237798227 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001035.2 +1 reviewed p.A2243T 1.000 51 0% 54 16.7% 0 - probably_damaging(0.997) - - HMMPfam_RYDR_ITPR RYR2 6262 genome.wustl.edu 37 1 237817619 237817619 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001035.2 +1 reviewed p.P2624S 0.977 170 0% 178 11.8% 0 - benign(0.144) - - NULL RYR2 6262 genome.wustl.edu 37 1 237863700 237863700 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001035.2 +1 reviewed p.A3100 0.203 79 0% 92 26.1% 1 0% - - - NULL RYR2 6262 genome.wustl.edu 37 1 237870368 237870368 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001035.2 +1 reviewed p.V3234I 1.000 266 0% 266 17.7% 0 - benign(0) - - NULL RYR2 6262 genome.wustl.edu 37 1 237872827 237872827 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001035.2 +1 reviewed p.R3397H 0.981 60 0% 74 20.3% 1 0% probably_damaging(0.997) - - NULL RYR2 6262 genome.wustl.edu 37 1 237944946 237944946 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001035.2 +1 reviewed p.G3988C 1.000 49 0% 47 19.1% 5 0% probably_damaging(1) - - NULL RYR2 6262 genome.wustl.edu 37 1 237954755 237954755 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001035.2 +1 reviewed p.N4501 1.000 28 0% 27 37% 1 100% - - - HMMPfam_RR_TM4-6 ZP4 57829 genome.wustl.edu 37 1 238053192 238053192 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021186.2 -1 reviewed p.L125 0.076 718 0.3% 613 15.7% 0 - - - - NULL ZP4 57829 genome.wustl.edu 37 1 238053194 238053194 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021186.2 -1 reviewed p.L125 0.041 704 0.1% 590 16.8% 0 - - - - NULL CHRM3 1131 genome.wustl.edu 37 1 240072133 240072133 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000740.2 +1 reviewed p.A461V 1.000 138 0% 110 20% 2 0% possibly_damaging(0.659) tolerated(0.2) neutral(0.282) HMMPfam_7tm_1,superfamily_SSF81321 FMN2 56776 genome.wustl.edu 37 1 240494023 240494023 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020066.4 +1 validated p.P1520T 1.000 242 0% 297 13.8% 2 0% benign(0.096) deleterious(0) neutral(0.452) HMMSmart_FH2,HMMPfam_FH2,superfamily_FH2_actin_bd RGS7 6000 genome.wustl.edu 37 1 240969578 240969578 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002924.4 -1 validated p.V377 0.862 265 0% 274 15.7% 0 - - - - HMMPfam_RGS,HMMSmart_RGS,superfamily_Regulat_G_prot_signal_superfam FH 2271 genome.wustl.edu 37 1 241665783 241665783 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000143.2 -1 reviewed p.S399I 1.000 408 0% 514 17.3% 263 19% probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_L-aspartase-like OPN3 23596 genome.wustl.edu 37 1 241761075 241761075 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014322.2 -1 reviewed p.P306 0.996 309 0% 364 15.4% 14 7.1% - - - HMMPfam_7tm_1,PatternScan_OPSIN,superfamily_Family A G protein-coupled receptor-like CHML 1122 genome.wustl.edu 37 1 241798495 241798495 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001821.3 -1 reviewed p.S192P 0.046 358 0% 325 16.3% 31 16.1% benign(0.006) tolerated(0.17) neutral(0.059) HMMPfam_GDI,superfamily_FAD/NAD(P)-binding domain WDR64 128025 genome.wustl.edu 37 1 241946670 241946670 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144625.4 +1 validated p.D441N 0.991 129 0% 102 10.8% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 EXO1 9156 genome.wustl.edu 37 1 242016664 242016664 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006027.4 +1 reviewed p.R96* 0.997 133 0% 102 16.7% 19 0% - - - HMMPfam_XPG_N,HMMSmart_SM00485,superfamily_PIN domain-like EXO1 9156 genome.wustl.edu 37 1 242021857 242021857 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006027.4 +1 reviewed p.A198D 0.992 464 0% 385 16.4% 9 11.1% benign(0.09) tolerated(0.24) neutral(0.044) HMMPfam_XPG_I,HMMSmart_SM00484,superfamily_PIN domain-like EXO1 9156 genome.wustl.edu 37 1 242030174 242030174 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006027.4 +1 reviewed p.Q362* 0.405 259 0% 293 20.1% 16 6.2% - - - NULL EXO1 9156 genome.wustl.edu 37 1 242030318 242030318 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006027.4 +1 reviewed p.L410I 1.000 171 0% 192 21.9% 17 23.5% probably_damaging(0.999) tolerated(0.16) deleterious(0.550) NULL EXO1 9156 genome.wustl.edu 37 1 242042466 242042466 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006027.4 +1 reviewed p.P644S 0.001 215 0% 222 16.2% 24 25% possibly_damaging(0.527) tolerated(0.06) deleterious(0.500) NULL PLD5 200150 genome.wustl.edu 37 1 242287844 242287844 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152666.1 -1 provisional p.L195F 1.000 365 0% 422 19.9% 3 0% probably_damaging(0.978) tolerated(0.31) neutral(0.448) HMMPfam_PLD_envelope PLD5 200150 genome.wustl.edu 37 1 242451783 242451783 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152666.1 -1 provisional p.A34T 1.000 197 0% 201 16.4% 4 25% possibly_damaging(0.497) tolerated(0.38) neutral(0.183) superfamily_SSF56024 CEP170 9859 genome.wustl.edu 37 1 243303284 243303284 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000336415 -1 known p.P1369L 0.830 118 0.8% 112 20.5% 14 21.4% - - - NULL CEP170 9859 genome.wustl.edu 37 1 243319624 243319624 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000336415 -1 known p.A1234V 0.982 43 0% 35 14.3% 13 30.7% - - - NULL CEP170 9859 genome.wustl.edu 37 1 243328102 243328102 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014812.2 -1 reviewed p.R1054W 0.990 333 0% 284 8.5% 9 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SDCCAG8 10806 genome.wustl.edu 37 1 243471320 243471320 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006642.2 +1 validated p.C257Y 0.998 324 0% 333 15.9% 20 20% benign(0.006) tolerated(0.42) neutral(0.014) NULL SDCCAG8 10806 genome.wustl.edu 37 1 243471336 243471336 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006642.2 +1 validated p.E262D 0.282 352 0.3% 340 17.6% 14 28.5% benign(0.311) tolerated(0.19) neutral(0.147) NULL C1orf100 200159 genome.wustl.edu 37 1 244528037 244528037 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001012970.1 +1 predicted p.R12H 0.216 273 0% 240 11.3% 0 - benign(0.008) tolerated(0.23) neutral(0.042) NULL HNRNPU 3192 genome.wustl.edu 37 1 245019774 245019774 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031844.2 -1 reviewed p.V633I 0.996 310 0% 335 17.9% 522 22.4% possibly_damaging(0.463) tolerated(0.24) neutral(0.190) superfamily_P-loop containing nucleoside triphosphate hydrolases KIF26B 55083 genome.wustl.edu 37 1 245770974 245770974 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018012.3 +1 provisional p.V527M 1.000 23 0% 20 20% 8 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF26B 55083 genome.wustl.edu 37 1 245775247 245775247 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018012.3 +1 provisional p.Q689H 1.000 66 0% 45 13.3% 9 44.4% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases CNST 163882 genome.wustl.edu 37 1 246810654 246810654 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152609.2 +1 validated p.P384L 0.758 427 0% 296 17.2% 16 6.2% benign(0.032) tolerated(0.2) neutral(0.051) NULL CNST 163882 genome.wustl.edu 37 1 246823594 246823594 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152609.2 +1 validated p.R644* 1.000 283 0% 275 16% 23 17.3% - - - NULL SCCPDH 51097 genome.wustl.edu 37 1 246899307 246899307 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016002.2 +1 validated p.A112S 1.000 124 0% 138 15.9% 119 13.4% benign(0.42) tolerated(0.1) neutral(0.422) HMMPfam_Saccharop_dh,superfamily_NAD(P)-bd AHCTF1 25909 genome.wustl.edu 37 1 247004113 247004113 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015446.4 -1 validated p.L2266 1.000 147 0% 134 15.7% 49 24.4% - - - NULL AHCTF1 25909 genome.wustl.edu 37 1 247014134 247014134 + Missense_Mutation SNP G G C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015446.4 -1 validated p.T1725S 0.000 274 0% 285 20% 47 25.5% benign(0.026) tolerated(0.34) neutral(0.024) NULL AHCTF1 25909 genome.wustl.edu 37 1 247014690 247014690 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015446.4 -1 validated p.L1540I 0.355 145 0% 147 13.6% 27 11.1% probably_damaging(0.955) tolerated(0.11) deleterious(0.670) NULL AHCTF1 25909 genome.wustl.edu 37 1 247021102 247021102 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015446.4 -1 validated p.A1383T 0.002 144 0% 135 20% 34 26.4% benign(0.006) tolerated(0.44) neutral(0.013) NULL ZNF669 79862 genome.wustl.edu 37 1 247265390 247265390 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024804.2 -1 validated p.A96D 1.000 121 0% 84 19% 10 30% possibly_damaging(0.929) tolerated(0.22) neutral(0.418) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF124 7678 genome.wustl.edu 37 1 247322347 247322347 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003431.2 -1 provisional p.S60I 0.647 119 0.8% 125 16.8% 13 30.7% possibly_damaging(0.836) deleterious(0.03) deleterious(0.684) HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) NLRP3 114548 genome.wustl.edu 37 1 247586599 247586599 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001079821.2 +1 reviewed p.W117* 0.988 370 0% 321 13.1% 0 - - - - NULL NLRP3 114548 genome.wustl.edu 37 1 247587744 247587744 + Silent SNP C C T rs180177451 TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001079821.2 +1 reviewed p.S333 1.000 205 0% 174 21.3% 1 100% - - - HMMPfam_NACHT OR2G2 81470 genome.wustl.edu 37 1 247751736 247751736 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001915.1 +1 provisional p.Q25H 0.156 579 0% 781 17.5% 0 - benign(0.005) tolerated(0.52) neutral(0.009) superfamily_SSF81321 OR2G3 81469 genome.wustl.edu 37 1 247768898 247768898 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001914.1 +1 provisional p.G4D 0.000 384 0% 387 17.1% 0 - benign(0) tolerated(0.66) neutral(0.003) superfamily_Family A G protein-coupled receptor-like OR13G1 441933 genome.wustl.edu 37 1 247835789 247835789 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005487.1 -1 provisional p.S185 0.991 268 0.4% 307 14.7% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR6F1 343169 genome.wustl.edu 37 1 247875677 247875677 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005286.1 -1 provisional p.C127* 0.949 159 0% 137 19.7% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR14K1 343170 genome.wustl.edu 37 1 247902071 247902071 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000283225 +1 known p.R52H 0.000 312 0% 373 20.9% 0 - benign(0.001) tolerated(0.83) neutral(0.001) HMMPfam_7tm_1,superfamily_SSF81321 OR14A16 284532 genome.wustl.edu 37 1 247978715 247978715 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001966.1 -1 provisional p.A106V 0.000 417 0% 505 16% 0 - benign(0.044) tolerated(0.09) neutral(0.299) HMMPfam_7tm_1,superfamily_SSF81321 OR11L1 391189 genome.wustl.edu 37 1 248004473 248004473 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001959.1 -1 provisional p.G242 0.932 223 0% 212 16% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 TRIM58 25893 genome.wustl.edu 37 1 248023987 248023987 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015431.3 +1 validated p.N163 0.001 93 0% 83 12% 0 - - - - NULL TRIM58 25893 genome.wustl.edu 37 1 248039261 248039261 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015431.3 +1 validated p.R311C 0.028 307 0% 242 19.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_PRY TRIM58 25893 genome.wustl.edu 37 1 248039312 248039312 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015431.3 +1 validated p.R328* 0.997 398 0.5% 335 17.3% 0 - - - - HMMSmart_PRY OR2W3 343171 genome.wustl.edu 37 1 248059128 248059128 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001957.2 +1 provisional p.Q80 0.948 429 0% 401 17.2% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR2T8 343172 genome.wustl.edu 37 1 248084835 248084835 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005522.1 +1 validated p.I172 0.001 180 0% 146 13% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR2T8 343172 genome.wustl.edu 37 1 248084999 248084999 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005522.1 +1 validated p.R227H 0.003 232 0% 217 13.4% 0 - benign(0.004) tolerated(0.52) neutral(0.009) HMMPfam_7tm_1,superfamily_SSF81321 OR2L8 391190 genome.wustl.edu 37 1 248112602 248112602 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001963.1 +1 provisional p.W148L 0.000 915 0.1% 916 14.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR2L8 391190 genome.wustl.edu 37 1 248112813 248112813 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001963.1 +1 provisional p.G218 0.001 641 0% 643 19.3% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR2L8 391190 genome.wustl.edu 37 1 248113023 248113023 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001963.1 +1 provisional p.I288 0.956 403 0% 361 10% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR2L5 81466 genome.wustl.edu 37 1 248186039 248186039 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000355281 +1 known p.L264M 0.000 426 0.2% 472 15% 0 - possibly_damaging(0.639) deleterious(0.05) deleterious(0.569) HMMPfam_7tm_1,superfamily_SSF81321 OR2L2 26246 genome.wustl.edu 37 1 248201970 248201970 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004686.2 +1 provisional p.R134H 0.002 698 0.6% 789 15.5% 0 - benign(0.002) deleterious(0.02) neutral(0.383) HMMPfam_7tm_1,superfamily_SSF81321 OR2L2 26246 genome.wustl.edu 37 1 248202005 248202005 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004686.2 +1 provisional p.G146* 0.001 745 0.1% 845 16% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR2L3 391192 genome.wustl.edu 37 1 248224762 248224762 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004687.1 +1 provisional p.R260H 0.001 492 0% 499 16.8% 0 - benign(0.039) tolerated(0.5) neutral(0.012) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2L13 284521 genome.wustl.edu 37 1 248262961 248262961 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175911.2 +1 provisional p.G95E 0.455 812 0% 799 14.4% 0 - possibly_damaging(0.735) tolerated(0.07) deleterious(0.588) HMMPfam_7tm_1,superfamily_SSF81321 OR2M5 127059 genome.wustl.edu 37 1 248308905 248308905 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004690.1 +1 provisional p.G152 0.000 1105 0.2% 1095 18% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR2M2 391194 genome.wustl.edu 37 1 248343550 248343550 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004688.1 +1 provisional p.G88V 0.000 1201 0.2% 1364 16.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 OR2M3 127062 genome.wustl.edu 37 1 248367054 248367054 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004689.1 +1 provisional p.G229R 0.000 1042 0.2% 1187 15.4% 0 - benign(0.005) tolerated(0.89) - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2T33 391195 genome.wustl.edu 37 1 248436766 248436766 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004695.1 -1 provisional p.A117 0.999 376 0% 398 8.5% 0 - - - - HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like OR2M7 391196 genome.wustl.edu 37 1 248487125 248487125 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004691.1 -1 provisional p.G249V 0.000 690 0.1% 853 15.7% 0 - benign(0.33) tolerated(0.15) neutral(0.344) HMMPfam_7tm_1,superfamily_SSF81321 OR2M7 391196 genome.wustl.edu 37 1 248487660 248487660 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004691.1 -1 provisional p.L71I 0.647 1152 0.1% 1464 16.3% 0 - possibly_damaging(0.919) tolerated(0.21) neutral(0.413) HMMPfam_7tm_1,superfamily_SSF81321 OR14C36 127066 genome.wustl.edu 37 1 248512336 248512336 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001918.1 +1 provisional p.S87I 0.000 266 0% 259 17.4% 0 - probably_damaging(0.964) deleterious(0.03) deleterious(0.771) HMMPfam_7tm_1,superfamily_SSF81321 OR2T4 127074 genome.wustl.edu 37 1 248525694 248525694 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004696.1 +1 provisional p.A271V 0.080 467 0% 554 14.8% 0 - possibly_damaging(0.6) tolerated(0.2) neutral(0.257) HMMPfam_7tm_1,superfamily_SSF81321 OR2T1 26696 genome.wustl.edu 37 1 248569567 248569567 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030904.1 +1 provisional p.A91V 0.088 466 0% 514 21.2% 0 - benign(0.012) deleterious(0.01) neutral(0.406) HMMPfam_7tm_1,superfamily_SSF81321 OR2G6 391211 genome.wustl.edu 37 1 248685372 248685372 + Missense_Mutation SNP C C T rs143730398 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001013355.1 +1 validated p.A142V 0.000 183 0% 212 19.8% 0 - benign(0) tolerated(0.85) neutral(0.001) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2T34 127068 genome.wustl.edu 37 1 248737718 248737718 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001821.1 -1 provisional p.G114E 0.004 592 0% 759 16.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 OR2T34 127068 genome.wustl.edu 37 1 248737793 248737793 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001821.1 -1 provisional p.G89D 0.000 696 0% 901 11.7% 0 - benign(0) tolerated(1) - HMMPfam_7tm_1,superfamily_SSF81321 SH3BP5L 80851 genome.wustl.edu 37 1 249106265 249106265 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030645.1 -1 provisional p.R339H 1.000 21 0% 19 26.3% 30 10% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL SH3BP5L 80851 genome.wustl.edu 37 1 249107212 249107212 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030645.1 -1 provisional p.K229N 1.000 48 0% 34 14.7% 53 22.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SH3BP5 ZNF672 79894 genome.wustl.edu 37 1 249142288 249142288 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024836.1 +1 provisional p.R272H 0.580 14 0% 14 28.6% 82 25.6% probably_damaging(0.998) tolerated(0.23) deleterious(0.516) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC100130262 100130262 genome.wustl.edu 37 1 249142475 249142475 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_001724354.2 -1 model p.R28C 0.949 54 0% 30 20% 70 18.5% - - - NULL ZNF672 79894 genome.wustl.edu 37 1 249142664 249142664 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024836.1 +1 provisional p.C397 0.042 52 0% 28 21.4% 62 17.7% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF692 55657 genome.wustl.edu 37 1 249148158 249148158 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001136036.1 -1 provisional p.K382N 1.000 129 0% 101 19.8% 52 15.3% probably_damaging(0.999) tolerated(0.16) deleterious(0.550) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 PGBD2 267002 genome.wustl.edu 37 1 249211399 249211399 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_170725.2 +1 validated p.D206N 1.000 551 0% 582 18.2% 6 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TPO 7173 genome.wustl.edu 37 2 1440027 1440027 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000547.5 +1 reviewed p.A118V 0.000 283 0% 166 24.1% 0 - benign(0.001) tolerated(0.96) - NULL PXDN 7837 genome.wustl.edu 37 2 1652818 1652818 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012293.1 -1 validated p.A912T 1.000 33 0% 16 37.5% 3 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases MYT1L 23040 genome.wustl.edu 37 2 1842965 1842965 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015025.2 -1 validated p.C1010 0.976 19 0% 10 40% 0 - - - - HMMPfam_zf-C2HC,superfamily_SSF103637 MYT1L 23040 genome.wustl.edu 37 2 1843092 1843092 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015025.2 -1 validated p.A968V 1.000 46 2.2% 31 35.5% 0 - possibly_damaging(0.931) tolerated(0.07) deleterious(0.697) HMMPfam_zf-C2HC,superfamily_SSF103637 MYT1L 23040 genome.wustl.edu 37 2 1891278 1891278 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015025.2 -1 validated p.S873N 1.000 296 0% 150 28.7% 0 - benign(0) tolerated(0.3) neutral(0.029) NULL MYT1L 23040 genome.wustl.edu 37 2 1915829 1915829 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015025.2 -1 validated p.R556C 1.000 71 0% 27 22.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2HC,superfamily_SSF103637 MYT1L 23040 genome.wustl.edu 37 2 1983515 1983515 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015025.2 -1 validated p.T12M 1.000 55 0% 25 24% 0 - unknown(0) deleterious(0) - NULL RNASEH1 246243 genome.wustl.edu 37 2 3595532 3595532 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002936.3 -1 validated p.D255N 1.000 727 0.1% 443 10.4% 42 9.5% possibly_damaging(0.882) deleterious(0.01) deleterious(0.750) HMMPfam_RnaseH,superfamily_Ribonuclease H-like RPS7 6201 genome.wustl.edu 37 2 3627792 3627792 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001011.3 +1 reviewed p.G150D 1.000 194 0% 96 31.2% 2340 47.9% benign(0.341) deleterious(0.03) deleterious(0.472) HMMPfam_Ribosomal_S7e COLEC11 78989 genome.wustl.edu 37 2 3691463 3691463 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024027.3 +1 validated p.A191T 0.255 32 0% 16 25% 2 0% benign(0) tolerated(0.48) neutral(0.011) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like RSAD2 91543 genome.wustl.edu 37 2 7023588 7023588 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080657.4 +1 validated p.V145L 0.000 106 0% 88 30.7% 3 0% benign(0) tolerated(0.61) neutral(0.004) HMMSmart_Elp3,HMMPfam_Radical_SAM,superfamily_SSF102114 RRM2 6241 genome.wustl.edu 37 2 10269260 10269260 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001034.3 +1 reviewed p.M332I 0.999 258 0% 112 21.4% 60 48.3% benign(0) tolerated(0.06) neutral(0.323) HMMPfam_Ribonuc_red_sm,superfamily_Ferritin/RR_like NOL10 79954 genome.wustl.edu 37 2 10712254 10712254 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024894.2 -1 validated p.L670 0.396 899 0% 392 28.1% 44 43.1% - - - NULL ATP6V1C2 245973 genome.wustl.edu 37 2 10911997 10911997 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001039362.1 +1 reviewed p.I168S 0.999 162 0.6% 76 26.3% 4 50% probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMPfam_V-ATPase_C ROCK2 9475 genome.wustl.edu 37 2 11337454 11337454 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004850.3 -1 reviewed p.Q1100H 0.979 364 0% 237 21.5% 15 40% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL ROCK2 9475 genome.wustl.edu 37 2 11337668 11337668 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004850.3 -1 reviewed p.L1088R 1.000 416 0% 325 28.9% 9 11.1% benign(0.011) deleterious(0.03) neutral(0.365) NULL GREB1 9687 genome.wustl.edu 37 2 11721031 11721031 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000389825 +1 known p.A215V 0.004 41 0% 20 20% 3 0% unknown(0) - - NULL TRIB2 28951 genome.wustl.edu 37 2 12863558 12863558 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021643.3 +1 reviewed p.R148I 1.000 79 0% 54 33.3% 13 53.8% possibly_damaging(0.911) deleterious(0.02) deleterious(0.746) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) TRIB2 28951 genome.wustl.edu 37 2 12880639 12880639 + Missense_Mutation SNP C C T rs186204534 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021643.3 +1 reviewed p.R251W 1.000 123 0% 57 22.8% 19 15.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase NBAS 51594 genome.wustl.edu 37 2 15470890 15470890 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015909.2 -1 validated e36-1 1.000 190 0% 94 27.7% 0 - - - - - FAM49A 81553 genome.wustl.edu 37 2 16736399 16736399 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030797.3 -1 validated p.G282 1.000 80 0% 68 16.2% 3 33.3% - - - HMMPfam_DUF1394 GEN1 348654 genome.wustl.edu 37 2 17941299 17941299 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130009.1 +1 validated p.D30G 1.000 219 0% 125 26.4% 6 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_XPG_N,HMMSmart_SM00485,superfamily_PIN domain-like RDH14 57665 genome.wustl.edu 37 2 18736616 18736616 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020905.3 -1 validated p.Q284H 1.000 359 0% 193 26.9% 28 46.4% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_NAD(P)-binding Rossmann-fold domains NT5C1B 93034 genome.wustl.edu 37 2 18767563 18767563 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001002006.1 -1 validated p.A132D 0.001 317 0% 170 16.5% 0 - possibly_damaging(0.444) deleterious(0) deleterious(0.590) NULL OSR1 130497 genome.wustl.edu 37 2 19552979 19552979 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145260.2 -1 validated p.T196 0.439 159 0.6% 88 23.9% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 WDR35 57539 genome.wustl.edu 37 2 20137624 20137624 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001006657.1 -1 reviewed p.G727D 1.000 230 0.4% 171 23.4% 8 62.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL WDR35 57539 genome.wustl.edu 37 2 20137661 20137661 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001006657.1 -1 reviewed p.A715T 1.000 192 0% 141 12.1% 6 16.6% probably_damaging(0.975) tolerated(0.05) deleterious(0.762) NULL C2orf43 60526 genome.wustl.edu 37 2 20990056 20990056 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021925.2 -1 predicted p.A86V 0.000 412 0% 320 28.4% 1 0% benign(0) tolerated(0.55) neutral(0.007) HMMPfam_DUF2305,superfamily_SSF53474 APOB 338 genome.wustl.edu 37 2 21230354 21230354 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000384.2 -1 reviewed p.P3129L 0.999 449 0% 267 24% 0 - probably_damaging(0.999) - - NULL APOB 338 genome.wustl.edu 37 2 21231131 21231131 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000384.2 -1 reviewed p.S2870N 0.003 726 0.1% 441 25.6% 0 - benign(0) - - NULL APOB 338 genome.wustl.edu 37 2 21231297 21231297 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000384.2 -1 reviewed p.S2815T 0.006 549 0% 327 16.8% 0 - benign(0.381) - - NULL APOB 338 genome.wustl.edu 37 2 21232130 21232130 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000384.2 -1 reviewed p.S2537Y 0.602 410 0% 297 27.6% 0 - benign(0.323) - - NULL APOB 338 genome.wustl.edu 37 2 21233445 21233445 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000384.2 -1 reviewed p.L2099M 0.002 291 0% 182 22% 0 - probably_damaging(0.996) - - NULL APOB 338 genome.wustl.edu 37 2 21237437 21237437 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000384.2 -1 reviewed p.S1242Y 0.042 249 0% 148 11.5% 0 - possibly_damaging(0.7) - - NULL APOB 338 genome.wustl.edu 37 2 21250732 21250732 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000384.2 -1 reviewed p.A679T 0.288 208 0% 130 29.2% 0 - benign(0.001) - - HMMPfam_DUF1943,superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions APOB 338 genome.wustl.edu 37 2 21251266 21251266 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000384.2 -1 reviewed p.Q588* 1.000 222 0% 130 25.4% 0 - - - - HMMPfam_Vitellogenin_N,HMMSmart_SM00638,superfamily_Lipovitellin-phosvitin complex superhelical domain APOB 338 genome.wustl.edu 37 2 21251373 21251373 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000384.2 -1 reviewed p.A552D 0.000 246 0% 132 20.5% 0 - benign(0.382) - - HMMPfam_Vitellogenin_N,HMMSmart_SM00638,superfamily_Lipovitellin-phosvitin complex superhelical domain C2orf44 80304 genome.wustl.edu 37 2 24262037 24262037 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025203.2 -1 validated p.G110* 0.999 223 0.4% 112 30.4% 6 50% - - - NULL ITSN2 50618 genome.wustl.edu 37 2 24443778 24443778 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_147152.2 -1 reviewed p.I1245 0.145 373 0% 207 24.2% 0 - - - - NULL ADCY3 109 genome.wustl.edu 37 2 25042873 25042873 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004036.3 -1 reviewed p.G1121 0.315 26 0% 15 26.7% 5 20% - - - HMMPfam_Guanylate_cyc,superfamily_A/G_cyclase DNAJC27 51277 genome.wustl.edu 37 2 25180704 25180704 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016544.1 -1 provisional p.I127S 1.000 398 0% 234 31.2% 0 - probably_damaging(0.959) deleterious(0.04) deleterious(0.752) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases ASXL2 55252 genome.wustl.edu 37 2 25966531 25966531 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018263.4 -1 validated p.T892I 0.033 273 0% 177 33.9% 9 44.4% benign(0.095) deleterious(0.01) neutral(0.413) NULL RAB10 10890 genome.wustl.edu 37 2 26332691 26332691 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016131.4 +1 validated p.G81 0.985 197 0% 123 26.8% 175 35.4% - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMSmart_SM00177,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases HADHA 3030 genome.wustl.edu 37 2 26414143 26414143 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000182.4 -1 reviewed p.S756 0.951 70 0% 28 25% 337 43.3% - - - superfamily_6-phosphogluconate dehydrogenase C-terminal domain-like GPR113 165082 genome.wustl.edu 37 2 26533594 26533594 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001145168.1 -1 validated p.P1001H 0.996 41 0% 19 42.1% 0 - probably_damaging(0.975) tolerated(0.08) deleterious(0.717) HMMPfam_7tm_2 GPR113 165082 genome.wustl.edu 37 2 26534603 26534603 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001145168.1 -1 validated p.L665I 0.001 69 0% 21 19% 0 - benign(0.345) tolerated(0.66) neutral(0.112) NULL EPT1 85465 genome.wustl.edu 37 2 26596446 26596446 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000407686 +1 known p.K174N 1.000 102 0% 59 30.5% 13 76.9% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_CDP-OH_P_transf KCNK3 3777 genome.wustl.edu 37 2 26950961 26950961 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002246.2 +1 reviewed p.A237V 1.000 47 0% 19 31.6% 3 0% probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_Ion_trans_2,superfamily_Voltage-gated potassium channels AGBL5 60509 genome.wustl.edu 37 2 27276355 27276355 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021831.5 +1 validated p.L101M 1.000 166 0% 91 35.2% 27 37% probably_damaging(0.984) tolerated(0.16) deleterious(0.490) NULL AGBL5 60509 genome.wustl.edu 37 2 27276790 27276790 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021831.5 +1 validated p.S138 1.000 236 0.4% 133 33.8% 28 39.2% - - - NULL CAD 790 genome.wustl.edu 37 2 27456973 27456973 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004341.3 +1 reviewed p.T1166M 1.000 82 0% 39 20.5% 22 9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CPSase_L_D2,superfamily_SSF56059 CAD 790 genome.wustl.edu 37 2 27459183 27459183 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004341.3 +1 reviewed p.A1369D 0.778 76 0% 47 36.2% 26 42.3% benign(0.001) tolerated(0.38) neutral(0.018) HMMPfam_MGS,superfamily_SSF52335 CAD 790 genome.wustl.edu 37 2 27464247 27464247 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004341.3 +1 reviewed p.S1956G 1.000 175 0% 82 28% 46 45.6% benign(0.008) deleterious(0.03) neutral(0.364) superfamily_Asp/Orn_carbamoyltranf,HMMPfam_OTCace_N DNAJC5G 285126 genome.wustl.edu 37 2 27500746 27500746 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173650.1 +1 provisional p.A80T 0.998 180 0% 96 13.5% 1 0% benign(0) tolerated(0.52) neutral(0.009) HMMPfam_DnaJ,HMMSmart_SM00271,superfamily_Chaperone J-domain,PatternScan_DNAJ_1 EIF2B4 8890 genome.wustl.edu 37 2 27589993 27589993 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_172195.3 -1 reviewed p.R341C 0.995 357 0.3% 210 32.4% 86 47.6% benign(0.002) tolerated(0.08) neutral(0.300) HMMPfam_IF-2B,superfamily_NagB/RpiA/CoA transferase-like PPM1G 5496 genome.wustl.edu 37 2 27606295 27606295 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_177983.1 -1 reviewed p.A380V 1.000 278 0% 105 13.3% 210 12.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C PPM1G 5496 genome.wustl.edu 37 2 27607655 27607655 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_177983.1 -1 reviewed p.A237D 1.000 191 0% 82 31.7% 147 46.9% probably_damaging(0.991) tolerated(0.06) deleterious(0.766) HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C IFT172 26160 genome.wustl.edu 37 2 27693941 27693941 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015662.1 -1 validated p.S516R 1.000 336 0.3% 180 36.1% 14 71.4% possibly_damaging(0.903) deleterious(0) deleterious(0.802) superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase C2orf16 84226 genome.wustl.edu 37 2 27804265 27804265 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032266.3 +1 validated p.P1609L 0.000 486 0% 258 32.6% 0 - unknown(0) deleterious(0.02) - NULL C2orf16 84226 genome.wustl.edu 37 2 27804762 27804762 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032266.3 +1 validated p.R1775C 0.000 856 0% 439 27.1% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL SLC4A1AP 22950 genome.wustl.edu 37 2 27886852 27886852 + Missense_Mutation SNP C C T rs190943180 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018158.2 +1 validated p.A78V 0.000 128 0% 60 40% 12 33.3% benign(0) tolerated(1) - NULL PLB1 151056 genome.wustl.edu 37 2 28851472 28851472 + Missense_Mutation SNP G G C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153021.4 +1 validated p.A1235P 0.997 236 0% 115 25.2% 1 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Lipase_GDSL,superfamily_SGNH hydrolase C2orf71 388939 genome.wustl.edu 37 2 29295463 29295463 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001029883.1 -1 provisional p.V555 1.000 111 0% 47 19.1% 0 - - - - NULL C2orf71 388939 genome.wustl.edu 37 2 29296126 29296126 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001029883.1 -1 provisional p.G334 0.023 106 0% 45 28.9% 0 - - - - NULL CLIP4 79745 genome.wustl.edu 37 2 29366800 29366800 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024692.4 +1 validated p.A292T 1.000 815 0% 653 28.6% 0 - probably_damaging(0.972) tolerated(0.49) neutral(0.424) HMMPfam_CAP_GLY,superfamily_Cap-Gly domain ALK 238 genome.wustl.edu 37 2 29416201 29416201 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004304.3 -1 reviewed p.Y1584 0.990 269 0% 136 13.2% 0 - - - - NULL ALK 238 genome.wustl.edu 37 2 29420416 29420416 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004304.3 -1 reviewed p.P1355 0.000 680 0.4% 443 33.4% 0 - - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) ALK 238 genome.wustl.edu 37 2 29455240 29455240 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004304.3 -1 reviewed p.D854 0.157 153 0% 77 26% 0 - - - - NULL ALK 238 genome.wustl.edu 37 2 30142942 30142942 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004304.3 -1 reviewed p.A195V 0.969 54 0% 19 52.6% 0 - benign(0) deleterious(0) neutral(0.445) NULL LCLAT1 253558 genome.wustl.edu 37 2 30756159 30756159 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182551.3 +1 validated p.L153I 1.000 613 0.2% 315 30.2% 10 40% probably_damaging(0.993) tolerated(0.12) deleterious(0.711) HMMPfam_Acyltransferase,HMMSmart_SM00563,superfamily_Glycerol-3-phosphate (1)-acyltransferase CAPN13 92291 genome.wustl.edu 37 2 30961293 30961293 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144575.2 -1 validated p.G523C 0.970 53 0% 31 25.8% 5 20% benign(0.018) deleterious(0.02) neutral(0.384) superfamily_EF-hand GALNT14 79623 genome.wustl.edu 37 2 31178827 31178827 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024572.2 -1 validated p.Q161 1.000 861 0.1% 497 27.6% 11 45.4% - - - HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases EHD3 30845 genome.wustl.edu 37 2 31483625 31483625 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014600.2 +1 validated p.R251Q 1.000 118 0% 61 16.4% 5 60% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases XDH 7498 genome.wustl.edu 37 2 31564236 31564236 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000379.3 -1 reviewed p.D1182Y 1.000 24 0% 11 36.4% 8 75% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ald_Xan_dh_C2,superfamily_Ald_xan_DH_mo_bd XDH 7498 genome.wustl.edu 37 2 31570414 31570414 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000379.3 -1 reviewed p.A1084T 0.979 101 0% 46 28.3% 10 50% benign(0) tolerated(0.35) neutral(0.021) HMMPfam_Ald_Xan_dh_C2,superfamily_Ald_xan_DH_mo_bd XDH 7498 genome.wustl.edu 37 2 31587057 31587057 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000379.3 -1 reviewed p.S866 1.000 193 0% 110 29.1% 13 30.7% - - - HMMPfam_Ald_Xan_dh_C2,superfamily_Ald_xan_DH_mo_bd XDH 7498 genome.wustl.edu 37 2 31624195 31624195 + Splice_Site SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000379.3 -1 reviewed e4-1 1.000 123 0% 53 18.9% 0 - - - - - SPAST 6683 genome.wustl.edu 37 2 32314615 32314615 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014946.3 +1 reviewed p.R176H 1.000 149 0% 87 27.6% 15 66.6% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_MIT,HMMSmart_SM00745 SPAST 6683 genome.wustl.edu 37 2 32379499 32379499 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014946.3 +1 reviewed p.S595 0.927 165 0% 106 23.6% 23 39.1% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases SLC30A6 55676 genome.wustl.edu 37 2 32429693 32429693 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017964.2 +1 provisional p.A234S 1.000 200 0% 104 22.1% 18 16.6% benign(0.001) tolerated(0.09) neutral(0.296) HMMPfam_Cation_efflux LOC100288882 100288882 genome.wustl.edu 37 2 32474744 32474744 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002342199.1 +1 model p.P30H 0.016 599 0% 338 24.9% 2 0% benign(0.345) deleterious(0.02) deleterious(0.492) NULL NLRC4 58484 genome.wustl.edu 37 2 32475920 32475920 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000360906 -1 known p.P338H 1.000 214 0.5% 114 31.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL BIRC6 57448 genome.wustl.edu 37 2 32640615 32640615 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016252.3 +1 reviewed p.C752 1.000 249 0% 162 27.8% 1 0% - - - NULL BIRC6 57448 genome.wustl.edu 37 2 32666457 32666457 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016252.3 +1 reviewed p.R1291W 1.000 168 0.6% 107 26.2% 3 66.6% probably_damaging(1) tolerated(0.05) deleterious(0.845) NULL BIRC6 57448 genome.wustl.edu 37 2 32832617 32832617 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016252.3 +1 reviewed p.Q4722H 1.000 761 0% 482 29% 67 34.3% benign(0.089) tolerated(0.32) neutral(0.030) HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like TTC27 55622 genome.wustl.edu 37 2 33036232 33036232 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017735.3 +1 provisional p.L714M 1.000 221 0% 149 35.6% 17 41.1% possibly_damaging(0.637) tolerated(0.3) neutral(0.252) superfamily_SSF48452 LTBP1 4052 genome.wustl.edu 37 2 33246075 33246075 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_206943.2 +1 reviewed p.A222V 0.000 581 0% 366 26.5% 14 35.7% benign(0) tolerated(0.51) neutral(0.009) superfamily_EGF/Laminin LTBP1 4052 genome.wustl.edu 37 2 33412122 33412122 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_206943.2 +1 reviewed p.T467 0.940 148 0% 99 19.2% 30 23.3% - - - NULL LTBP1 4052 genome.wustl.edu 37 2 33540272 33540272 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_206943.2 +1 reviewed p.E1223D 0.720 211 0% 122 23.8% 27 40.7% benign(0) tolerated(0.46) neutral(0.012) PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin CRIM1 51232 genome.wustl.edu 37 2 36737130 36737130 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016441.1 +1 provisional p.E502D 1.000 176 0.6% 103 28.2% 18 16.6% benign(0.417) tolerated(0.1) neutral(0.421) NULL VIT 5212 genome.wustl.edu 37 2 36956571 36956571 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_053276.3 +1 validated p.L19M 1.000 183 0% 101 23.8% 0 - probably_damaging(0.978) tolerated(0.07) deleterious(0.740) NULL VIT 5212 genome.wustl.edu 37 2 37032795 37032795 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_053276.3 +1 validated p.N459 1.000 200 0% 126 15.1% 0 - - - - HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 VIT 5212 genome.wustl.edu 37 2 37035951 37035951 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_053276.3 +1 validated p.A576T 1.000 72 0% 35 28.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 STRN 6801 genome.wustl.edu 37 2 37076705 37076705 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003162.2 -1 validated p.A746D 1.000 176 0% 109 21.1% 15 60% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 STRN 6801 genome.wustl.edu 37 2 37152248 37152248 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003162.2 -1 validated p.R113I 1.000 200 1% 177 25.4% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Striatin HEATR5B 54497 genome.wustl.edu 37 2 37246965 37246965 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019024.1 -1 validated p.A1364V 1.000 177 0% 119 38.7% 17 41.1% possibly_damaging(0.854) tolerated(0.05) deleterious(0.674) NULL HEATR5B 54497 genome.wustl.edu 37 2 37255950 37255950 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019024.1 -1 validated p.R1159W 1.000 428 0.5% 242 34.7% 13 38.4% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) superfamily_ARM repeat EIF2AK2 5610 genome.wustl.edu 37 2 37374883 37374883 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001135651.1 -1 validated p.V23I 0.000 204 0% 124 29.8% 13 76.9% benign(0.001) tolerated(0.48) neutral(0.011) HMMPfam_dsrm,HMMSmart_SM00358,superfamily_dsRNA-binding domain-like CEBPZ 10153 genome.wustl.edu 37 2 37441067 37441067 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005760.2 -1 validated p.R829W 0.974 108 0% 68 22.1% 54 37% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) superfamily_ARM repeat C2orf56 55471 genome.wustl.edu 37 2 37474692 37474692 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144736.4 +1 validated p.A344S 1.000 276 0% 161 35.4% 13 23% benign(0.004) tolerated(0.11) neutral(0.272) HMMPfam_DUF185 PRKD3 23683 genome.wustl.edu 37 2 37486743 37486743 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005813.3 -1 reviewed p.A710T 1.000 220 0% 117 26.5% 31 41.9% benign(0.002) tolerated(0.53) neutral(0.007) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase FAM82A1 151393 genome.wustl.edu 37 2 38178974 38178974 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144713.3 +1 validated p.A206S 0.000 646 0% 429 26.8% 0 - possibly_damaging(0.465) tolerated(0.93) neutral(0.153) NULL GEMIN6 79833 genome.wustl.edu 37 2 39006475 39006475 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000409566 +1 known p.S68 0.007 37 0% 25 56% 7 28.5% - - - NULL DHX57 90957 genome.wustl.edu 37 2 39053011 39053011 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198963.1 -1 provisional p.P998S 1.000 217 0.5% 162 39.5% 10 70% possibly_damaging(0.495) deleterious(0) deleterious(0.610) superfamily_P-loop containing nucleoside triphosphate hydrolases THADA 63892 genome.wustl.edu 37 2 43458127 43458127 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001083953.1 -1 validated p.S1941L 0.000 128 0% 55 27.3% 21 28.5% benign(0.002) tolerated(0.08) neutral(0.300) NULL THADA 63892 genome.wustl.edu 37 2 43814006 43814006 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001083953.1 -1 validated p.E146D 1.000 442 0% 311 24.4% 4 75% probably_damaging(0.999) tolerated(0.42) deleterious(0.504) NULL PLEKHH2 130271 genome.wustl.edu 37 2 43937759 43937759 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000405000 +1 known p.Q741H 0.000 61 0% 31 22.6% 1 0% - - - HMMSmart_PH ABCG5 64240 genome.wustl.edu 37 2 44065066 44065066 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022436.2 -1 reviewed p.T58P 0.000 148 0% 89 22.5% 0 - benign(0) tolerated(0.27) neutral(0.034) superfamily_SSF52540 ABCG8 64241 genome.wustl.edu 37 2 44104812 44104812 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022437.2 +1 reviewed p.A623 0.000 233 0% 123 28.5% 0 - - - - NULL PPM1B 5495 genome.wustl.edu 37 2 44445635 44445635 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002706.4 +1 reviewed p.A365T 1.000 212 0% 146 13% 34 11.7% benign(0.001) tolerated(0.24) neutral(0.037) HMMPfam_PP2C_C,superfamily_Protein serine/threonine phosphatase 2C C-terminal domain PPM1B 5495 genome.wustl.edu 37 2 44457760 44457760 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002706.4 +1 reviewed p.T448I 1.000 192 0% 128 29.7% 23 39.1% benign(0.051) deleterious(0.01) neutral(0.409) NULL SIX2 10736 genome.wustl.edu 37 2 45236031 45236031 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016932.4 -1 reviewed p.H73 1.000 35 0% 23 30.4% 0 - - - - NULL SRBD1 55133 genome.wustl.edu 37 2 45829083 45829083 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018079.4 -1 validated p.I74V 0.000 607 0.2% 412 26% 6 0% benign(0) tolerated(0.98) - NULL PRKCE 5581 genome.wustl.edu 37 2 46234651 46234651 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005400.2 +1 reviewed p.R372* 1.000 116 0% 76 28.9% 4 0% - - - NULL EPAS1 2034 genome.wustl.edu 37 2 46574171 46574171 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001430.4 +1 reviewed p.S62 1.000 203 0% 86 11.6% 31 19.3% - - - HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic EPAS1 2034 genome.wustl.edu 37 2 46607687 46607687 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001430.4 +1 reviewed p.T626A 1.000 134 0% 73 27.4% 43 18.6% probably_damaging(0.961) tolerated(0.24) neutral(0.442) NULL CALM2 805 genome.wustl.edu 37 2 47389759 47389759 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001743.4 -1 validated p.G26E 1.000 254 0% 153 25.5% 424 43.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand EPCAM 4072 genome.wustl.edu 37 2 47606971 47606971 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002354.2 +1 reviewed p.D241Y 0.969 290 0% 165 21.8% 913 46.1% probably_damaging(0.966) deleterious(0.02) deleterious(0.791) NULL MSH6 2956 genome.wustl.edu 37 2 48033408 48033408 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000179.2 +1 reviewed p.T1238A 0.954 346 0% 219 29.2% 39 17.9% benign(0.004) tolerated(0.72) neutral(0.002) HMMPfam_MutS_V,HMMSmart_SM00534,superfamily_P-loop containing nucleoside triphosphate hydrolases PPP1R21 129285 genome.wustl.edu 37 2 48742027 48742027 + RNA SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NR_024188.1 +1 validated NULL 0.996 134 0.7% 96 32.3% 33 54.5% - - - - NRXN1 9378 genome.wustl.edu 37 2 50149274 50149274 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000412315 -1 known p.A147V 1.000 190 0% 107 12.1% 0 - - - - NULL NRXN1 9378 genome.wustl.edu 37 2 50692638 50692638 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001135659.1 -1 reviewed p.W1142* 1.000 105 0% 86 23.3% 0 - - - - HMMPfam_EGF,HMMSmart_EGF NRXN1 9378 genome.wustl.edu 37 2 50765740 50765740 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001135659.1 -1 reviewed p.Y638 1.000 218 0% 143 22.4% 0 - - - - HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 NRXN1 9378 genome.wustl.edu 37 2 50779813 50779813 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001135659.1 -1 reviewed p.G597 0.914 505 0% 274 23.7% 0 - - - - HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 NRXN1 9378 genome.wustl.edu 37 2 50848385 50848385 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001135659.1 -1 reviewed p.H412Q 1.000 20 0% 20 40% 0 - probably_damaging(0.991) tolerated(0.1) deleterious(0.730) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 PSME4 23198 genome.wustl.edu 37 2 54155294 54155294 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014614.2 -1 validated p.A488V 1.000 216 0.5% 125 21.6% 22 59% benign(0.002) tolerated(1) - NULL TSPYL6 388951 genome.wustl.edu 37 2 54482256 54482256 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001003937.2 -1 validated p.H345Y 0.007 227 0% 156 35.9% 0 - possibly_damaging(0.7) deleterious(0) deleterious(0.696) HMMPfam_NAP TSPYL6 388951 genome.wustl.edu 37 2 54482709 54482710 + Frame_Shift_Ins INS - - G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001003937.2 -1 validated p.G193fs 0.000:0.001 - - - - - - - - - NULL C2orf73 129852 genome.wustl.edu 37 2 54586122 54586122 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001100396.1 +1 validated p.A139S 0.164 17 0% 14 28.6% 0 - benign(0.425) tolerated(0.37) neutral(0.157) NULL SPTBN1 6711 genome.wustl.edu 37 2 54851940 54851940 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003128.2 +1 reviewed e10-1 1.000 135 0% 80 33.8% 0 - - - - - SPTBN1 6711 genome.wustl.edu 37 2 54853251 54853251 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003128.2 +1 reviewed p.R508 0.965 259 0% 125 24.8% 33 51.5% - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTBN1 6711 genome.wustl.edu 37 2 54870166 54870166 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003128.2 +1 reviewed p.S1302F 1.000 354 0% 203 28.1% 57 35% possibly_damaging(0.761) tolerated(0.15) deleterious(0.523) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat MTIF2 4528 genome.wustl.edu 37 2 55490925 55490925 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005369.1 -1 reviewed p.L24 0.678 390 0% 272 12.1% 42 14.2% - - - NULL CCDC88A 55704 genome.wustl.edu 37 2 55522975 55522975 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001135597.1 -1 validated p.A1769V 0.963 213 0% 149 26.8% 9 33.3% benign(0.069) tolerated(0.34) neutral(0.028) NULL CCDC88A 55704 genome.wustl.edu 37 2 55546057 55546057 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001135597.1 -1 validated p.Q1081H 1.000 224 0% 148 25% 3 66.6% probably_damaging(1) tolerated(0.16) deleterious(0.559) NULL CCDC88A 55704 genome.wustl.edu 37 2 55555446 55555446 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001135597.1 -1 validated p.R993H 1.000 65 0% 41 22% 1 0% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL CCDC88A 55704 genome.wustl.edu 37 2 55566682 55566682 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001135597.1 -1 validated p.L479P 1.000 185 0% 110 21.8% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CCDC104 112942 genome.wustl.edu 37 2 55761008 55761008 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080667.5 +1 validated e5-1 1.000 197 0% 118 35.6% 1 0% - - - - EFEMP1 2202 genome.wustl.edu 37 2 56104884 56104884 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001039348.1 -1 reviewed p.V253I 0.947 322 0.3% 225 26.7% 5 0% possibly_damaging(0.909) tolerated(0.52) neutral(0.370) HMMSmart_SM00179,HMMSmart_SM00181,superfamily_EGF/Laminin CCDC85A 114800 genome.wustl.edu 37 2 56420144 56420144 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080433.1 +1 provisional p.R270H 1.000 126 0% 71 25.4% 5 40% benign(0) tolerated(0.71) neutral(0.002) NULL VRK2 7444 genome.wustl.edu 37 2 58373543 58373543 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130480.1 +1 reviewed p.S372 0.087 305 0% 219 30.1% 20 35% - - - NULL BCL11A 53335 genome.wustl.edu 37 2 60689482 60689482 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022893.3 -1 reviewed p.A189T 1.000 95 0% 71 21.1% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PUS10 150962 genome.wustl.edu 37 2 61236077 61236077 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144709.2 -1 validated p.P67H 1.000 163 0% 120 25% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PEX13 5194 genome.wustl.edu 37 2 61275703 61275703 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002618.3 +1 reviewed p.R337K 1.000 181 0% 114 28.1% 45 40% possibly_damaging(0.605) tolerated(0.38) neutral(0.227) superfamily_SH3-domain USP34 9736 genome.wustl.edu 37 2 61607465 61607465 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014709.3 -1 validated p.R285* 0.998 242 0% 144 33.3% 6 50% - - - NULL FAM161A 84140 genome.wustl.edu 37 2 62067223 62067223 + Missense_Mutation SNP G G A rs183615774 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032180.2 -1 validated p.R306W 0.991 596 0% 321 21.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UPF0564 WDPCP 51057 genome.wustl.edu 37 2 63631515 63631515 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015910.4 -1 validated p.R368H 0.183 731 0.3% 577 13% 2 50% probably_damaging(0.99) tolerated(0.08) deleterious(0.742) NULL PELI1 57162 genome.wustl.edu 37 2 64322145 64322145 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020651.3 -1 validated p.G316 1.000 438 0.2% 279 32.3% 26 42.3% - - - HMMPfam_Pellino PELI1 57162 genome.wustl.edu 37 2 64327612 64327612 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020651.3 -1 validated p.H75Y 1.000 595 0.3% 364 31% 12 58.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pellino CEP68 23177 genome.wustl.edu 37 2 65299444 65299444 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015147.2 +1 validated p.G405D 0.094 121 0% 74 33.8% 15 33.3% probably_damaging(0.981) deleterious(0.02) deleterious(0.808) NULL SPRED2 200734 genome.wustl.edu 37 2 65540997 65540997 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181784.2 -1 validated p.R299W 0.984 140 0% 79 32.9% 17 35.2% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL WDR92 116143 genome.wustl.edu 37 2 68358371 68358371 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138458.2 -1 validated p.*358 1.000 227 0% 116 33.6% 6 50% - - - NULL WDR92 116143 genome.wustl.edu 37 2 68361860 68361860 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000457114 -1 known p.A84V 0.990 141 0% 79 15.2% 12 33.3% - - - superfamily_WD40 repeat-like ARHGAP25 9938 genome.wustl.edu 37 2 69015006 69015006 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001007231.2 +1 validated p.S128 0.998 566 0.2% 377 27.9% 3 0% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ARHGAP25 9938 genome.wustl.edu 37 2 69034577 69034577 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000497259 +1 known p.T72M 0.933 347 0% 206 20.9% 8 0% - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP GKN2 200504 genome.wustl.edu 37 2 69174362 69174362 + Nonsense_Mutation SNP G G A rs183499773 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182536.2 -1 provisional p.R78* 0.996 247 0% 170 21.2% 0 - - - - HMMPfam_BRICHOS GKN2 200504 genome.wustl.edu 37 2 69177313 69177313 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182536.2 -1 provisional p.I50S 0.590 167 0% 90 22.2% 0 - benign(0.066) tolerated(0.88) neutral(0.004) NULL GKN1 56287 genome.wustl.edu 37 2 69206004 69206004 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019617.3 +1 reviewed p.G83D 0.818 254 0% 150 32.7% 0 - benign(0.055) tolerated(0.25) neutral(0.041) HMMPfam_BRICHOS AAK1 22848 genome.wustl.edu 37 2 69769735 69769735 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014911.3 -1 reviewed p.L152I 1.000 380 0% 220 30% 2 50% probably_damaging(0.993) tolerated(0.13) deleterious(0.703) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ANXA4 307 genome.wustl.edu 37 2 70015269 70015269 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001153.3 +1 reviewed p.G31 0.003 76 0% 44 50% 126 31.7% - - - superfamily_Annexin,HMMPfam_Annexin GMCL1 64395 genome.wustl.edu 37 2 70066650 70066650 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178439.3 +1 provisional p.E149G 1.000 109 0% 69 20.3% 8 25% benign(0.221) tolerated(0.14) neutral(0.272) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB ASPRV1 151516 genome.wustl.edu 37 2 70187920 70187920 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152792.2 -1 validated p.R301C 1.000 536 0% 222 17.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL C2orf42 54980 genome.wustl.edu 37 2 70408296 70408296 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017880.1 -1 predicted p.S274 0.999 233 0% 128 27.3% 5 40% - - - NULL C2orf42 54980 genome.wustl.edu 37 2 70408679 70408679 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017880.1 -1 predicted p.T147A 1.000 149 0% 77 29.9% 12 25% benign(0.27) tolerated(0.68) neutral(0.031) NULL CD207 50489 genome.wustl.edu 37 2 71060099 71060099 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015717.2 -1 validated p.Y217H 0.994 203 0% 136 27.2% 0 - probably_damaging(0.996) tolerated(0.43) deleterious(0.475) HMMPfam_Lectin_C,HMMSmart_CLECT,superfamily_C-type_lectin_fold ANKRD53 79998 genome.wustl.edu 37 2 71211313 71211313 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024933.3 +1 validated p.L322I 0.000 139 0% 64 34.4% 0 - possibly_damaging(0.875) deleterious(0) deleterious(0.784) NULL TEX261 113419 genome.wustl.edu 37 2 71219099 71219099 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144582.2 -1 validated p.V55 1.000 51 0% 32 40.6% 47 57.4% - - - HMMPfam_Erv26 ZNF638 27332 genome.wustl.edu 37 2 71653808 71653808 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001014972.1 +1 reviewed p.E1603D 1.000 251 0% 154 30.5% 54 61.1% probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL DYSF 8291 genome.wustl.edu 37 2 71747339 71747339 + Splice_Site SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130987.1 +1 reviewed e11+1 1.000 383 0% 203 35% 0 - - - - - DYSF 8291 genome.wustl.edu 37 2 71891504 71891504 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130987.1 +1 reviewed p.D1704N 1.000 224 0% 111 36.9% 11 9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_C2,superfamily_C2_CaLB CCT7 10574 genome.wustl.edu 37 2 73466900 73466900 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006429.3 +1 reviewed p.D46N 1.000 77 0% 51 9.8% 260 13.4% probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_TCP1_1,HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like FBXO41 150726 genome.wustl.edu 37 2 73491552 73491552 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080410.2 -1 validated p.R615* 1.000 103 0% 45 33.3% 8 12.5% - - - NULL ALMS1 7840 genome.wustl.edu 37 2 73678197 73678197 + Missense_Mutation SNP G G A rs183839621 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015120.4 +1 reviewed p.A1514T 0.000 384 0.3% 246 29.3% 2 100% benign(0) tolerated(0.14) neutral(0.249) NULL ALMS1 7840 genome.wustl.edu 37 2 73680976 73680976 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015120.4 +1 reviewed p.D2440V 1.000 178 0% 109 11% 7 14.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ALMS1 7840 genome.wustl.edu 37 2 73747144 73747144 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015120.4 +1 reviewed e11+1 0.991 496 0% 339 16.8% 0 - - - - - C2orf78 388960 genome.wustl.edu 37 2 74041222 74041222 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080474.1 +1 predicted p.A239D 0.015 359 0% 219 26.9% 0 - probably_damaging(0.981) deleterious(0.04) deleterious(0.774) NULL STAMBP 10617 genome.wustl.edu 37 2 74072341 74072341 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006463.3 +1 reviewed p.E109D 0.585 189 0% 89 12.4% 42 21.4% benign(0.004) tolerated(0.6) neutral(0.004) NULL TET3 200424 genome.wustl.edu 37 2 74273836 74273836 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144993.1 +1 provisional p.R129 0.868 154 0% 76 14.5% 6 16.6% - - - NULL BOLA3 388962 genome.wustl.edu 37 2 74362730 74362730 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_212552.2 -1 validated p.P105L 1.000 280 0.4% 146 16.4% 96 26% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_BolA,superfamily_BolA SLC4A5 57835 genome.wustl.edu 37 2 74474247 74474247 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021196.3 -1 reviewed p.A659T 0.999 201 0% 97 12.4% 2 0% benign(0.001) tolerated(0.09) neutral(0.296) HMMPfam_HCO3_cotransp SLC4A5 57835 genome.wustl.edu 37 2 74482914 74482914 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021196.3 -1 reviewed p.P338H 1.000 55 0% 23 17.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Band_3_cyto,superfamily_Phoshotransferase/anion transport protein DCTN1 1639 genome.wustl.edu 37 2 74592235 74592235 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004082.3 -1 reviewed p.G1055C 1.000 405 0.2% 250 13.2% 132 6.8% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL WBP1 23559 genome.wustl.edu 37 2 74687007 74687007 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012477.2 +1 reviewed p.W60C 1.000 108 0% 52 30.8% 172 40.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CCDC142 84865 genome.wustl.edu 37 2 74708600 74708600 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032779.3 -1 validated p.L363I 0.141 149 0.7% 70 15.7% 2 0% benign(0.022) tolerated(0.34) neutral(0.024) NULL AUP1 550 genome.wustl.edu 37 2 74755129 74755129 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181575.3 -1 reviewed p.L226F 1.000 243 0% 121 36.4% 267 45.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL LOXL3 84695 genome.wustl.edu 37 2 74762824 74762824 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032603.2 -1 reviewed p.G436E 0.929 271 0.4% 108 26.9% 1 0% benign(0.045) tolerated(0.59) neutral(0.007) HMMPfam_SRCR,HMMSmart_SR,superfamily_Srcr_receptor LOXL3 84695 genome.wustl.edu 37 2 74777347 74777347 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032603.2 -1 reviewed p.R148C 1.000 209 0% 109 32.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Srcr_receptor C2orf65 130951 genome.wustl.edu 37 2 74802690 74802690 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138804.3 -1 predicted p.G317R 0.951 523 0% 299 20.4% 13 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL C2orf65 130951 genome.wustl.edu 37 2 74867341 74867341 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138804.3 -1 predicted p.P21H 1.000 120 0% 68 39.7% 14 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL HK2 3099 genome.wustl.edu 37 2 75061754 75061754 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000189.4 +1 reviewed p.H16R 0.996 20 0% 18 27.8% 39 69.2% benign(0.003) tolerated(0.05) neutral(0.345) HMMPfam_Hexokinase_1,superfamily_SSF53067 HK2 3099 genome.wustl.edu 37 2 75117923 75117923 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000189.4 +1 reviewed e18-1 1.000 758 0% 412 27.2% 0 - - - - - MRPL19 9801 genome.wustl.edu 37 2 75879774 75879774 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014763.3 +1 reviewed p.E156K 1.000 592 0% 362 29.8% 85 58.8% possibly_damaging(0.895) tolerated(0.07) deleterious(0.672) NULL REG1A 5967 genome.wustl.edu 37 2 79348783 79348783 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002909.4 +1 reviewed p.R54C 0.001 467 0% 280 26.4% 0 - benign(0.001) tolerated(0.17) neutral(0.059) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like REG1A 5967 genome.wustl.edu 37 2 79349974 79349974 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002909.4 +1 reviewed p.R110H 0.915 256 0.4% 153 25.5% 0 - benign(0.007) tolerated(0.12) neutral(0.261) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like REG3A 5068 genome.wustl.edu 37 2 79385862 79385862 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002580.1 -1 reviewed p.R37Q 0.001 117 0% 65 36.9% 0 - probably_damaging(0.994) deleterious(0.01) deleterious(0.858) NULL CTNNA2 1496 genome.wustl.edu 37 2 80816438 80816438 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004389.3 +1 validated p.A673T 1.000 209 0.5% 113 23.9% 2 0% benign(0.002) tolerated(0.38) neutral(0.018) HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin CTNNA2 1496 genome.wustl.edu 37 2 80846259 80846259 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000402739 +1 known p.V827A 1.000 25 0% 26 38.5% 0 - benign(0.001) tolerated(0.08) neutral(0.300) HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin CTNNA2 1496 genome.wustl.edu 37 2 80846323 80846323 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000402739 +1 known p.P848 0.998 41 0% 34 32.4% 0 - - - - HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin C2orf89 129293 genome.wustl.edu 37 2 85066424 85066424 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080824.1 -1 predicted p.T231 0.058 270 0.4% 198 32.3% 5 0% - - - NULL KCMF1 56888 genome.wustl.edu 37 2 85280314 85280314 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020122.4 +1 validated p.E310K 1.000 114 0% 81 42% 115 47.8% possibly_damaging(0.896) deleterious(0.01) deleterious(0.759) NULL RETSAT 54884 genome.wustl.edu 37 2 85571194 85571194 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017750.3 -1 validated p.E487D 0.968 144 0% 62 24.2% 52 42.3% benign(0.078) tolerated(0.2) neutral(0.054) superfamily_FAD/NAD(P)-binding domain ELMOD3 84173 genome.wustl.edu 37 2 85604556 85604556 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032213.4 +1 validated p.M233V 1.000 64 0% 40 30% 10 30% benign(0.249) tolerated(0.27) neutral(0.059) HMMPfam_ELMO_CED12 GGCX 2677 genome.wustl.edu 37 2 85785695 85785695 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000821.4 -1 reviewed p.R136Q 1.000 172 0% 76 30.3% 24 41.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_VKG_Carbox,HMMSmart_HTTM GGCX 2677 genome.wustl.edu 37 2 85785774 85785774 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000423570 -1 known p.P119H 0.995 120 0.8% 66 24.2% 0 - unknown(0) - - NULL C2orf68 388969 genome.wustl.edu 37 2 85836108 85836108 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001013649.3 -1 validated p.R154H 0.997 105 0% 49 18.4% 50 30% probably_damaging(0.999) tolerated(0.16) deleterious(0.550) NULL POLR1A 25885 genome.wustl.edu 37 2 86270158 86270158 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015425.3 -1 validated p.A1099D 0.962 154 0% 86 25.6% 10 50% benign(0.311) tolerated(0.48) neutral(0.107) HMMPfam_RNA_pol_Rpb1_5,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase POLR1A 25885 genome.wustl.edu 37 2 86305275 86305275 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015425.3 -1 validated p.D407N 1.000 178 0% 96 39.6% 11 36.3% probably_damaging(0.99) tolerated(0.3) deleterious(0.470) HMMSmart_SM00663,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase SMYD1 150572 genome.wustl.edu 37 2 88383924 88383924 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198274.2 +1 provisional p.R76H 1.000 271 0.7% 130 26.9% 0 - probably_damaging(0.994) tolerated(0.1) deleterious(0.738) HMMSmart_SET,HMMPfam_zf-MYND,PatternScan_ZF_MYND_1,superfamily_SSF82199 EIF2AK3 9451 genome.wustl.edu 37 2 88874672 88874672 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004836.5 -1 reviewed p.D777Y 0.980 1249 0.2% 921 28% 17 52.9% possibly_damaging(0.948) deleterious(0.01) deleterious(0.796) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase IGKV4-1 28908 genome.wustl.edu 37 2 89185662 89185662 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000390243 +1 known p.S119I 0.000 206 0% 150 31.3% 8 0% benign(0.03) deleterious(0.04) neutral(0.350) HMMPfam_V-set,superfamily_SSF48726 IGKV1-9 28941 genome.wustl.edu 37 2 89309575 89309575 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000493819 -1 known p.S85 0.997 535 0.2% 348 30.5% 7 0% - - - HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin IGKV3-20 28912 genome.wustl.edu 37 2 89442224 89442224 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000492167 -1 known p.P61S 0.996 288 0% 157 31.2% 52 1.9% benign(0.233) tolerated(0.13) neutral(0.276) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin IGKV1-37 28931 genome.wustl.edu 37 2 89597030 89597030 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000465170 -1 known p.Y114 0.000 329 0% 196 12.2% 0 - - - - superfamily_Immunoglobulin IGKV3D-20 28874 genome.wustl.edu 37 2 90077790 90077790 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000390270 +1 known p.A5V 0.001 309 0% 233 25.3% 22 0% benign(0.043) tolerated(0.25) neutral(0.040) NULL IGKV3D-20 28874 genome.wustl.edu 37 2 90078279 90078279 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000390270 +1 known p.V106M 0.086 305 0% 191 20.4% 14 0% benign(0.01) tolerated(0.11) neutral(0.272) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin IGKV1D-13 28902 genome.wustl.edu 37 2 90193138 90193138 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000390275 +1 known p.C22Y 0.002 1034 0% 657 20.5% 1 0% possibly_damaging(0.558) deleterious(0.01) deleterious(0.596) NULL IGKV1D-42 28892 genome.wustl.edu 37 2 90229091 90229091 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000390278 +1 known p.L9 0.037 410 0.2% 269 26.4% 0 - - - - NULL IGKV1D-8 28904 genome.wustl.edu 37 2 90260171 90260171 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000471857 +1 known p.D92Y 0.980 634 0.2% 364 26.6% 1 0% possibly_damaging(0.807) deleterious(0.01) deleterious(0.710) HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin NCAPH 23397 genome.wustl.edu 37 2 97031743 97031743 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015341.3 +1 reviewed p.G610* 0.002 227 0% 115 33.9% 18 0% - - - HMMPfam_Barren KANSL3 55683 genome.wustl.edu 37 2 97278635 97278635 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001115016.1 -1 validated p.S278P 1.000 33 0% 17 41.2% 15 26.6% benign(0) tolerated(1) - superfamily_SSF53474 LMAN2L 81562 genome.wustl.edu 37 2 97373561 97373561 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142292.1 -1 validated p.D276A 0.998 130 0% 77 31.2% 23 34.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lectin_leg-like,superfamily_ConA_like_lec_gl LMAN2L 81562 genome.wustl.edu 37 2 97403763 97403763 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142292.1 -1 validated p.N77D 1.000 210 0% 152 29.6% 30 40% benign(0.015) tolerated(0.19) neutral(0.050) HMMPfam_Lectin_leg-like,superfamily_ConA_like_lec_gl CNNM4 26504 genome.wustl.edu 37 2 97427038 97427038 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020184.3 +1 reviewed p.T101I 0.000 81 0% 35 17.1% 7 14.2% benign(0.067) tolerated(0.24) neutral(0.042) NULL CNNM4 26504 genome.wustl.edu 37 2 97427570 97427570 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020184.3 +1 reviewed p.G278 1.000 112 0% 42 31% 8 37.5% - - - HMMPfam_DUF21 CNNM4 26504 genome.wustl.edu 37 2 97427896 97427896 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020184.3 +1 reviewed p.R387H 0.260 207 0% 82 23.2% 13 23% benign(0.013) tolerated(0.14) neutral(0.250) HMMPfam_CBS CNNM4 26504 genome.wustl.edu 37 2 97427900 97427900 + Silent SNP C C T rs56190267 TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020184.3 +1 reviewed p.S388 0.137 209 0.5% 82 28% 14 57.1% - - - HMMPfam_CBS CNNM4 26504 genome.wustl.edu 37 2 97462863 97462863 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020184.3 +1 reviewed p.S506L 1.000 77 0% 50 24% 10 50% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL ANKRD23 200539 genome.wustl.edu 37 2 97505473 97505473 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144994.7 -1 reviewed p.V271 0.023 17 0% 11 45.5% 1 0% - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat SEMA4C 54910 genome.wustl.edu 37 2 97526493 97526493 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017789.4 -1 validated p.R791H 1.000 35 0% 21 19% 12 25% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ANKRD36B 57730 genome.wustl.edu 37 2 98169633 98169633 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025190.3 -1 provisional p.T192I 0.032 83 0% 93 29% 0 - - - - NULL UBTFL6 643615 genome.wustl.edu 37 2 98253451 98253451 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_001714896.2 -1 model p.R267H 0.705 131 0.8% 74 32.4% 0 - - - - HMMSmart_SM00398,superfamily_HMG-box ZAP70 7535 genome.wustl.edu 37 2 98351824 98351824 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001079.3 +1 reviewed p.I398 0.997 77 0% 42 23.8% 3 0% - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) ZAP70 7535 genome.wustl.edu 37 2 98354219 98354219 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001079.3 +1 reviewed e10-1 1.000 181 0% 71 25.4% 0 - - - - - ZAP70 7535 genome.wustl.edu 37 2 98354297 98354297 + Silent SNP C C T rs184903382 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001079.3 +1 reviewed p.S520 0.720 269 0% 107 29.9% 5 0% - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) CNGA3 1261 genome.wustl.edu 37 2 98986532 98986532 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001298.2 +1 reviewed p.L32I 1.000 127 0% 78 29.5% 0 - benign(0.113) tolerated(0.23) neutral(0.051) NULL CNGA3 1261 genome.wustl.edu 37 2 99012937 99012937 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001298.2 +1 reviewed p.T435M 0.979 104 1% 46 32.6% 0 - benign(0.312) tolerated(0.09) neutral(0.394) superfamily_cNMP_binding INPP4A 3631 genome.wustl.edu 37 2 99152615 99152615 + Silent SNP G G A rs61748140 byCluster;byFrequency;by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001134224.1 +1 reviewed p.T137 0.997 105 0% 76 23.7% 3 33.3% - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB) INPP4A 3631 genome.wustl.edu 37 2 99193602 99193602 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001134224.1 +1 reviewed p.R933C 1.000 54 0% 25 36% 7 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL UNC50 25972 genome.wustl.edu 37 2 99227273 99227273 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014044.5 +1 validated p.G106* 1.000 295 0.3% 143 27.3% 46 2.1% - - - HMMPfam_UNC-50 MITD1 129531 genome.wustl.edu 37 2 99786039 99786039 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138798.1 -1 provisional p.G210* 1.000 346 0% 222 26.6% 40 32.5% - - - NULL AFF3 3899 genome.wustl.edu 37 2 100168024 100168024 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001025108.1 -1 reviewed p.P1223Q 1.000 81 0% 46 19.6% 2 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_AF-4 CHST10 9486 genome.wustl.edu 37 2 101009860 101009860 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004854.3 -1 validated p.P306 0.056 402 0% 204 21.6% 62 46.7% - - - HMMPfam_Sulfotransfer_2 CHST10 9486 genome.wustl.edu 37 2 101010054 101010054 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004854.3 -1 validated p.R242C 1.000 668 0.4% 315 34.3% 34 52.9% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Sulfotransfer_2 PDCL3 79031 genome.wustl.edu 37 2 101192845 101192845 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024065.4 +1 validated p.A203T 1.000 177 0% 108 27.8% 124 38.7% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_Phosducin,superfamily_Thiordxn-like_fd TBC1D8 11138 genome.wustl.edu 37 2 101638193 101638193 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001102426.1 -1 validated p.G911E 1.000 34 0% 15 26.7% 40 50% benign(0.196) deleterious(0.02) neutral(0.402) superfamily_EF-hand C2orf29 55571 genome.wustl.edu 37 2 101885512 101885512 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017546.4 +1 validated p.A417S 1.000 149 0% 70 32.9% 112 41.9% benign(0.409) tolerated(0.37) neutral(0.151) HMMPfam_DUF2363 CREG2 200407 genome.wustl.edu 37 2 102000072 102000072 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153836.3 -1 validated p.K178N 1.000 83 0% 41 26.8% 0 - probably_damaging(0.983) deleterious(0.03) deleterious(0.793) superfamily_FMN_binding MAP4K4 9448 genome.wustl.edu 37 2 102480474 102480474 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145686.2 +1 reviewed p.K686N 1.000 451 0% 264 32.2% 6 0% possibly_damaging(0.499) tolerated(0.33) neutral(0.191) NULL MAP4K4 9448 genome.wustl.edu 37 2 102482931 102482931 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145686.2 +1 reviewed p.L749P 1.000 132 0% 54 20.4% 57 42.1% unknown(0) tolerated(0.35) - NULL MAP4K4 9448 genome.wustl.edu 37 2 102483707 102483707 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145686.2 +1 reviewed p.R797H 1.000 93 0% 57 10.5% 77 11.6% unknown(0) tolerated(0.34) - NULL IL1R1 3554 genome.wustl.edu 37 2 102791954 102791954 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000877.2 +1 reviewed p.T384 0.993 569 0.2% 368 16.6% 45 35.5% - - - HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain IL1RL2 8808 genome.wustl.edu 37 2 102818146 102818146 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003854.2 +1 reviewed p.E207G 0.000 158 0% 98 37.8% 1 0% benign(0.002) tolerated(0.42) neutral(0.014) HMMSmart_IG,superfamily_SSF48726 IL1RL2 8808 genome.wustl.edu 37 2 102851535 102851535 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003854.2 +1 reviewed p.E492D 0.066 192 0% 101 30.7% 1 0% benign(0.15) tolerated(0.21) neutral(0.057) HMMPfam_TIR,HMMSmart_TIR,superfamily_TIR IL18RAP 8807 genome.wustl.edu 37 2 103068507 103068507 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003853.2 +1 reviewed p.R556C 0.698 484 0% 247 20.2% 0 - probably_damaging(0.996) deleterious(0.05) deleterious(0.807) HMMPfam_TIR,HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain SLC9A4 389015 genome.wustl.edu 37 2 103090380 103090380 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001011552.3 +1 validated p.E54 0.009 449 0% 269 31.6% 20 55% - - - NULL TMEM182 130827 genome.wustl.edu 37 2 103378692 103378692 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144632.3 +1 validated p.A6T 0.873 158 0% 117 29.1% 0 - benign(0.135) tolerated(0.09) neutral(0.308) NULL TMEM182 130827 genome.wustl.edu 37 2 103414411 103414411 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144632.3 +1 validated p.A141T 0.721 145 0% 79 34.2% 5 20% benign(0) tolerated(1) - NULL TGFBRAP1 9392 genome.wustl.edu 37 2 105924216 105924216 + Nonsense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142621.1 -1 validated p.C181* 1.000 292 0% 163 33.7% 3 0% - - - NULL NCK2 8440 genome.wustl.edu 37 2 106471675 106471675 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004720.2 +1 reviewed p.P52 0.895 79 0% 39 25.6% 64 42.1% - - - HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3 RGPD3 653489 genome.wustl.edu 37 2 107040650 107040650 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001144013.1 -1 validated p.A1258D 0.999 974 0.1% 652 34.5% 19 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL RGPD3 653489 genome.wustl.edu 37 2 107049639 107049639 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001144013.1 -1 validated p.R770* 0.635 1210 0% 854 14.1% 0 - - - - NULL GCC2 9648 genome.wustl.edu 37 2 109113543 109113543 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181453.3 +1 reviewed p.A1587V 1.000 426 0.2% 237 29.5% 18 38.8% benign(0.04) - - NULL LIMS1 3987 genome.wustl.edu 37 2 109288832 109288832 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004987.3 +1 reviewed p.P92L 1.000 261 0% 141 7.8% 28 50% possibly_damaging(0.929) tolerated(0.08) deleterious(0.676) HMMPfam_LIM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,superfamily_SSF57716 LIMS1 3987 genome.wustl.edu 37 2 109289423 109289423 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004987.3 +1 reviewed p.E144D 0.992 379 0% 305 11.1% 41 53.6% benign(0.001) tolerated(1) - HMMPfam_LIM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,superfamily_SSF57716 RANBP2 5903 genome.wustl.edu 37 2 109371463 109371463 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006267.4 +1 reviewed p.R769* 0.982 796 0% 555 26.8% 21 19% - - - NULL RANBP2 5903 genome.wustl.edu 37 2 109382283 109382283 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006267.4 +1 reviewed p.A1763V 0.040 294 0% 213 10.8% 70 17.1% benign(0.133) - - NULL SEPT10 151011 genome.wustl.edu 37 2 110350656 110350656 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144710.2 -1 reviewed p.S24F 0.011 400 0% 241 26.6% 10 10% possibly_damaging(0.819) deleterious(0) deleterious(0.754) NULL BCL2L11 10018 genome.wustl.edu 37 2 111907697 111907697 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138621.3 +1 reviewed p.D157 0.998 94 0% 38 31.6% 20 30% - - - HMMPfam_Bclx_interact MERTK 10461 genome.wustl.edu 37 2 112751980 112751980 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006343.2 +1 reviewed p.H483 0.008 261 0% 168 31.5% 19 47.3% - - - superfamily_FN_III-like ZC3H8 84524 genome.wustl.edu 37 2 112996096 112996096 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032494.2 -1 validated p.S56P 0.056 352 0% 197 16.2% 10 40% possibly_damaging(0.646) deleterious(0.05) deleterious(0.572) NULL ZC3H6 376940 genome.wustl.edu 37 2 113088959 113088961 + In_Frame_Del DEL GAT GAT - novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 GAT GAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198581.2 +1 validated p.D825in_frame_del 1.000:1.000:0.999 - - - - - - - - - NULL RGPD8 727851 genome.wustl.edu 37 2 113146812 113146812 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000302558 -1 known p.P1237L 0.015 1107 0.2% 707 24.9% 2 0% benign(0.287) deleterious(0.01) deleterious(0.494) NULL TTL 150465 genome.wustl.edu 37 2 113243506 113243506 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153712.4 +1 validated p.G57V 1.000 172 0% 74 25.7% 4 25% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SLC20A1 6574 genome.wustl.edu 37 2 113416607 113416608 + Frame_Shift_Del DEL AG AG - novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005415.3 +1 provisional p.R332fs 0.023:0.531 - - - - - - - - - HMMPfam_PHO4 CKAP2L 150468 genome.wustl.edu 37 2 113522151 113522151 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152515.3 -1 validated p.A9T 0.021 33 0% 23 21.7% 7 28.5% probably_damaging(0.992) deleterious(0.04) deleterious(0.796) NULL IL36B 27177 genome.wustl.edu 37 2 113786603 113786603 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014438.3 -1 reviewed p.K58 0.025 483 0% 305 31.8% 1 0% - - - superfamily_Cytokine IL1F10 84639 genome.wustl.edu 37 2 113832846 113832846 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032556.4 +1 reviewed p.L122M 0.996 300 0% 173 26.6% 0 - possibly_damaging(0.847) deleterious(0.01) deleterious(0.731) HMMPfam_IL1,HMMSmart_SM00125,superfamily_Cytokine PSD4 23550 genome.wustl.edu 37 2 113950908 113950908 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012455.2 +1 validated p.R665C 1.000 79 0% 31 19.4% 22 45.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sec7,HMMSmart_SM00222,superfamily_Sec7 domain RABL2A 11159 genome.wustl.edu 37 2 114398525 114398525 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007082.3 +1 reviewed p.E118* 0.998 200 0% 95 25.3% 25 4% - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases CCDC93 54520 genome.wustl.edu 37 2 118764313 118764313 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019044.3 -1 validated p.T79M 1.000 149 0% 90 30% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_KOG2701 INSIG2 51141 genome.wustl.edu 37 2 118864361 118864361 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016133.2 +1 reviewed p.L140 1.000 262 0% 166 30.7% 15 60% - - - HMMPfam_INSIG TMEM37 140738 genome.wustl.edu 37 2 120194933 120194933 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_183240.2 +1 validated p.C164R 1.000 526 0% 308 30.5% 24 16.6% benign(0.244) deleterious(0.01) neutral(0.430) NULL ENSG00000163075 0 genome.wustl.edu 37 2 120409636 120409636 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000443972 +1 known p.G361* 0.893 186 0% 106 31.1% 2 50% benign(0) deleterious(0.04) neutral(0.349) NULL TMEM177 80775 genome.wustl.edu 37 2 120439276 120439276 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001105198.1 +1 validated p.L283V 1.000 223 0% 103 36.9% 25 52% benign(0.022) tolerated(0.34) neutral(0.024) NULL PTPN4 5775 genome.wustl.edu 37 2 120677644 120677644 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002830.2 +1 reviewed e11-1 1.000 192 0% 121 29.8% 0 - - - - - GLI2 2736 genome.wustl.edu 37 2 121729540 121729540 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005270.4 +1 reviewed p.A361 0.007 41 0% 19 42.1% 0 - - - - NULL GLI2 2736 genome.wustl.edu 37 2 121740367 121740367 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005270.4 +1 reviewed p.P532S 1.000 59 0% 21 28.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_C2H2 and C2HC zinc fingers CLASP1 23332 genome.wustl.edu 37 2 122125234 122125234 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015282.2 -1 validated p.A1272 0.980 91 0% 34 29.4% 16 68.7% - - - superfamily_ARM repeat TSN 7247 genome.wustl.edu 37 2 122518995 122518995 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004622.2 +1 reviewed p.H90Y 1.000 462 0.2% 257 26.1% 72 44.4% possibly_damaging(0.947) deleterious(0) deleterious(0.835) HMMPfam_Translin,superfamily_Translin CNTNAP5 129684 genome.wustl.edu 37 2 125204413 125204413 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_130773.2 +1 reviewed p.L273I 1.000 107 0% 47 27.7% 0 - benign(0.022) tolerated(0.2) neutral(0.050) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 ERCC3 2071 genome.wustl.edu 37 2 128015278 128015278 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000122.1 -1 reviewed p.S748I 1.000 196 0.5% 102 13.7% 58 29.3% possibly_damaging(0.609) deleterious(0.01) deleterious(0.617) NULL ERCC3 2071 genome.wustl.edu 37 2 128050352 128050352 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000122.1 -1 reviewed p.A102D 1.000 104 0% 63 17.5% 26 42.3% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) NULL GPR17 2840 genome.wustl.edu 37 2 128409012 128409012 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005291.2 +1 validated p.R263C 1.000 38 0% 20 30% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SAP130 79595 genome.wustl.edu 37 2 128712741 128712741 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024545.3 -1 validated p.A738 0.001 173 0% 108 21.3% 36 50% - - - NULL SAP130 79595 genome.wustl.edu 37 2 128775396 128775396 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024545.3 -1 validated p.P95H 1.000 150 0% 69 21.7% 12 33.3% probably_damaging(0.974) deleterious(0) deleterious(0.861) NULL UGGT1 56886 genome.wustl.edu 37 2 128927906 128927906 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020120.3 +1 validated p.V989G 0.999 154 0% 120 26.7% 26 42.3% possibly_damaging(0.937) deleterious(0) deleterious(0.828) HMMPfam_UDP-g_GGTase POTEF 728378 genome.wustl.edu 37 2 130865653 130865653 + Splice_Site SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001099771.2 -1 validated e6-1 0.008 220 0% 160 25% 0 - - - - - CCDC74B 91409 genome.wustl.edu 37 2 130897481 130897481 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000409488 -1 known p.R228K 0.153 52 0% 26 19.2% 3 0% unknown(0) - - NULL LOC653269 653269 genome.wustl.edu 37 2 131258107 131258107 + Splice_Site SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_928585.2 -1 model e4+2 0.749 317 0% 241 14.5% 0 - - - - - LOC653269 653269 genome.wustl.edu 37 2 131266407 131266407 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_928585.2 -1 model p.H134 0.001 193 0% 105 28.6% 0 - - - - superfamily_Ankyrin repeat LOC653781 653781 genome.wustl.edu 37 2 131377726 131377726 + Splice_Site SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_929706.3 +1 model e4+2 0.460 145 0% 101 17.8% 0 - - - - - LOC653781 653781 genome.wustl.edu 37 2 131415056 131415056 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_929706.3 +1 model p.G908D 1.000 195 0% 108 22.2% 1 0% probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain FAM123C 205147 genome.wustl.edu 37 2 131521501 131521501 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001105193.1 +1 validated p.A619V 0.112 51 0% 20 30% 0 - possibly_damaging(0.915) deleterious(0.03) deleterious(0.731) NULL ARHGEF4 50649 genome.wustl.edu 37 2 131796516 131796516 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015320.2 +1 reviewed p.V220I 0.999 15 0% 12 33.3% 3 0% probably_damaging(0.994) tolerated(0.1) deleterious(0.738) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain TUBA3D 113457 genome.wustl.edu 37 2 132238049 132238049 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080386.2 +1 validated p.P261 0.964 241 0.8% 120 11.7% 0 - - - - superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C ZNF806 646915 genome.wustl.edu 37 2 133075993 133075993 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_001724242.2 +1 model p.A485V 0.368 250 0% 205 17.1% 0 - - - - NULL GPR39 2863 genome.wustl.edu 37 2 133174981 133174981 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001508.2 +1 validated p.T122 0.249 108 0% 59 32.2% 1 100% - - - HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like GPR39 2863 genome.wustl.edu 37 2 133175207 133175207 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001508.2 +1 validated p.H198Y 0.998 94 0% 41 14.6% 7 14.2% probably_damaging(0.996) tolerated(0.05) deleterious(0.807) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like LYPD1 116372 genome.wustl.edu 37 2 133403820 133403820 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144586.5 -1 validated p.A75V 0.929 61 0% 30 23.3% 17 35.2% possibly_damaging(0.913) deleterious(0.02) deleterious(0.748) NULL MGAT5 4249 genome.wustl.edu 37 2 135099273 135099273 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002410.3 +1 validated p.S307F 1.000 281 0% 221 27.6% 8 0% possibly_damaging(0.608) deleterious(0.01) deleterious(0.616) NULL TMEM163 81615 genome.wustl.edu 37 2 135214322 135214322 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030923.4 -1 validated p.V279M 1.000 181 0% 70 14.3% 1 0% benign(0.024) deleterious(0) neutral(0.446) NULL CCNT2 905 genome.wustl.edu 37 2 135712028 135712028 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_058241.1 +1 reviewed p.P668L 1.000 244 0% 153 23.5% 12 66.6% probably_damaging(0.983) deleterious(0) deleterious(0.873) NULL YSK4 80122 genome.wustl.edu 37 2 135744563 135744563 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025052.3 -1 validated p.C627R 0.000 460 0% 295 14.9% 1 0% benign(0.022) deleterious(0.04) neutral(0.350) NULL ZRANB3 84083 genome.wustl.edu 37 2 135920109 135920109 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000283060 -1 known p.A573V 0.000 92 0% 62 38.7% 0 - unknown(0) - - NULL ZRANB3 84083 genome.wustl.edu 37 2 136071088 136071088 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032143.2 -1 provisional p.R313C 1.000 304 0% 164 29.9% 2 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_P-loop containing nucleoside triphosphate hydrolases R3HDM1 23518 genome.wustl.edu 37 2 136380239 136380239 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015361.2 +1 provisional p.Y145C 1.000 24 0% 24 29.2% 21 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL UBXN4 23190 genome.wustl.edu 37 2 136513106 136513106 + Frame_Shift_Del DEL A A - novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014607.3 +1 validated p.T119fs 0.979 - - - - - - - - - NULL LCT 3938 genome.wustl.edu 37 2 136546031 136546031 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002299.2 -1 reviewed p.A1883T 0.995 439 0% 224 11.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL LCT 3938 genome.wustl.edu 37 2 136566930 136566930 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002299.2 -1 reviewed p.G996E 1.000 167 0% 81 27.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat LCT 3938 genome.wustl.edu 37 2 136594350 136594350 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002299.2 -1 reviewed p.I130 0.370 114 0% 71 18.3% 0 - - - - superfamily_Glyco_hydro_cat SPOPL 339745 genome.wustl.edu 37 2 139316877 139316877 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001664.2 +1 validated p.M228I 1.000 127 0% 75 32% 11 72.7% possibly_damaging(0.917) deleterious(0) deleterious(0.812) HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB NXPH2 11249 genome.wustl.edu 37 2 139428697 139428697 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007226.2 -1 validated p.A197V 0.996 157 0% 101 36.6% 0 - possibly_damaging(0.741) deleterious(0.01) deleterious(0.677) HMMPfam_Neurexophilin LRP1B 53353 genome.wustl.edu 37 2 141081485 141081485 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018557.2 -1 validated p.S4164F 1.000 375 0% 324 28.1% 0 - benign(0) tolerated(0.77) neutral(0.001) superfamily_SSF63825 LRP1B 53353 genome.wustl.edu 37 2 141259433 141259433 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018557.2 -1 validated p.C2891 1.000 176 0% 101 31.7% 0 - - - - HMMPfam_Ldl_recept_a,HMMSmart_LDLa,superfamily_LDL_rcpt_classA_cys-rich,superfamily_SSF63825 LRP1B 53353 genome.wustl.edu 37 2 141771270 141771270 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018557.2 -1 validated p.S745 0.873 322 0% 234 25.2% 0 - - - - HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 LRP1B 53353 genome.wustl.edu 37 2 141806735 141806735 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018557.2 -1 validated p.G537* 1.000 462 0.4% 364 32.4% 0 - - - - superfamily_SSF63825 LRP1B 53353 genome.wustl.edu 37 2 141946009 141946009 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018557.2 -1 validated p.A332S 1.000 348 0% 298 29.9% 0 - probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 ARHGAP15 55843 genome.wustl.edu 37 2 144461045 144461045 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018460.3 +1 validated p.P399H 1.000 190 0% 144 28.5% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RhoGAP,HMMSmart_RhoGAP,superfamily_Rho_GAP ZEB2 9839 genome.wustl.edu 37 2 145147450 145147450 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014795.3 -1 reviewed p.S1071 1.000 152 0% 61 31.1% 4 0% - - - HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZEB2 9839 genome.wustl.edu 37 2 145155993 145155993 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014795.3 -1 reviewed p.R921* 0.990 272 0.4% 139 26.6% 2 0% - - - NULL LYPD6 130574 genome.wustl.edu 37 2 150327309 150327309 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_194317.2 +1 provisional p.R154H 0.632 476 0.2% 317 29.3% 4 75% benign(0) tolerated(0.53) neutral(0.007) NULL TNFAIP6 7130 genome.wustl.edu 37 2 152230104 152230104 + Splice_Site SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007115.2 +1 reviewed e5+1 1.000 232 0% 129 21.7% 0 - - - - - RIF1 55183 genome.wustl.edu 37 2 152319926 152319926 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018151.4 +1 reviewed p.G1298W 0.003 243 0% 164 18.3% 9 22.2% possibly_damaging(0.783) deleterious(0.03) deleterious(0.657) superfamily_ARM repeat RIF1 55183 genome.wustl.edu 37 2 152320436 152320436 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018151.4 +1 reviewed p.L1468 0.004 286 0% 169 29.6% 8 62.5% - - - superfamily_ARM repeat RIF1 55183 genome.wustl.edu 37 2 152321342 152321342 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018151.4 +1 reviewed p.P1770T 0.000 343 0% 201 29.4% 3 33.3% possibly_damaging(0.9) deleterious(0) deleterious(0.801) superfamily_ARM repeat RIF1 55183 genome.wustl.edu 37 2 152324577 152324577 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018151.4 +1 reviewed p.R2222W 0.965 213 0% 152 27.6% 26 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat NEB 4703 genome.wustl.edu 37 2 152410005 152410005 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004543.4 -1 reviewed p.K4845N 1.000 164 0.6% 127 26% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152411456 152411456 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004543.4 -1 reviewed p.L4772I 0.022 242 0% 153 28.1% 1 100% benign(0.063) tolerated(0.18) neutral(0.060) HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152427018 152427018 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004543.4 -1 reviewed p.A4003V 1.000 47 0% 43 23.3% 0 - probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152473959 152473959 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004543.4 -1 reviewed p.D3457 0.991 14 0% 12 58.3% 0 - - - - HMMPfam_Nebulin,HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152484097 152484097 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004543.4 -1 reviewed p.T3118 0.010 475 0% 288 30.2% 0 - - - - HMMSmart_SM00227 NEB 4703 genome.wustl.edu 37 2 152500512 152500512 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004543.4 -1 reviewed p.D2592E 1.000 595 0.2% 377 28.4% 0 - benign(0.095) tolerated(0.24) neutral(0.044) HMMPfam_Nebulin,HMMSmart_SM00227 FMNL2 114793 genome.wustl.edu 37 2 153473604 153473604 + Splice_Site SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052905.3 +1 reviewed e13-1 1.000 221 0% 119 28.6% 0 - - - - - FMNL2 114793 genome.wustl.edu 37 2 153504361 153504361 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052905.3 +1 reviewed p.R1074M 1.000 392 0.5% 282 25.5% 15 60% unknown(0) deleterious(0) - NULL PRPF40A 55660 genome.wustl.edu 37 2 153526818 153526818 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017892.3 -1 validated p.Y519* 0.998 88 0% 59 22% 74 6.7% - - - HMMSmart_SM00441,superfamily_FF domain PRPF40A 55660 genome.wustl.edu 37 2 153535960 153535960 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017892.3 -1 validated p.K161N 1.000 68 0% 50 22% 37 81% probably_damaging(0.969) deleterious(0) deleterious(0.856) HMMPfam_WW,HMMSmart_SM00456,PatternScan_WW_DOMAIN_1,superfamily_WW domain ARL6IP6 151188 genome.wustl.edu 37 2 153616289 153616289 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152522.4 +1 validated p.G206S 1.000 175 0% 110 18.2% 35 48.5% possibly_damaging(0.916) deleterious(0) deleterious(0.811) NULL GALNT13 114805 genome.wustl.edu 37 2 155099300 155099300 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052917.2 +1 validated p.R190C 1.000 97 0% 69 13% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases KCNJ3 3760 genome.wustl.edu 37 2 155555494 155555494 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002239.2 +1 reviewed p.S69 1.000 126 0% 60 25% 0 - - - - HMMPfam_IRK,superfamily_SSF81324 NR4A2 4929 genome.wustl.edu 37 2 157186266 157186266 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006186.3 -1 reviewed p.D145N 1.000 56 0% 35 25.7% 16 37.5% benign(0.001) tolerated(0.43) neutral(0.013) NULL ACVR1 90 genome.wustl.edu 37 2 158630689 158630689 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001105.4 -1 reviewed p.D185G 1.000 355 0% 228 26.3% 22 45.4% probably_damaging(0.989) tolerated(0.08) deleterious(0.740) HMMPfam_TGF_beta_GS,HMMSmart_GS,superfamily_Kinase_like ACVR1 90 genome.wustl.edu 37 2 158637032 158637032 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001105.4 -1 reviewed p.G50C 1.000 268 0% 151 29.8% 21 42.8% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Activin_recp,superfamily_SSF57302 CCDC148 130940 genome.wustl.edu 37 2 159028674 159028674 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138803.3 -1 validated p.P576H 1.000 382 0% 310 29% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CCDC148 130940 genome.wustl.edu 37 2 159165949 159165949 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138803.3 -1 validated p.A369V 1.000 196 0% 85 12.9% 2 0% probably_damaging(0.996) tolerated(0.05) deleterious(0.807) NULL PKP4 8502 genome.wustl.edu 37 2 159481642 159481642 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003628.3 +1 reviewed p.R286W 0.810 118 0% 71 26.8% 104 38.4% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL PKP4 8502 genome.wustl.edu 37 2 159488368 159488368 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003628.3 +1 reviewed p.T419 0.986 147 0% 93 11.8% 106 28.3% - - - NULL TANC1 85461 genome.wustl.edu 37 2 160080821 160080821 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033394.2 +1 validated p.G1253S 1.000 76 0% 35 34.3% 8 37.5% probably_damaging(0.961) tolerated(0.09) deleterious(0.701) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat BAZ2B 29994 genome.wustl.edu 37 2 160206219 160206219 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013450.2 -1 validated p.Q1621H 1.000 282 0% 194 30.9% 6 83.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL MARCH7 64844 genome.wustl.edu 37 2 160609014 160609014 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022826.2 +1 validated p.C572Y 1.000 244 0% 151 30.5% 77 63.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_RINGv,HMMPfam_zf-C3HC4,superfamily_SSF57850 TANK 10010 genome.wustl.edu 37 2 162091906 162091906 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004180.2 +1 reviewed p.G385 0.869 383 0.3% 204 10.8% 39 35.8% - - - NULL DPP4 1803 genome.wustl.edu 37 2 162849855 162849855 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001935.3 -1 reviewed p.A747S 1.000 314 0% 215 28.8% 0 - possibly_damaging(0.474) tolerated(0.26) neutral(0.191) HMMPfam_Peptidase_S9,superfamily_alpha/beta-Hydrolases IFIH1 64135 genome.wustl.edu 37 2 163123734 163123734 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022168.2 -1 reviewed p.C1018 0.977 236 0% 143 28% 10 20% - - - NULL FIGN 55137 genome.wustl.edu 37 2 164468183 164468183 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018086.2 -1 validated p.A53 1.000 554 0% 387 32.6% 2 50% - - - NULL COBLL1 22837 genome.wustl.edu 37 2 165550911 165550911 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014900.3 -1 validated p.Q1035H 1.000 142 0% 90 28.9% 16 68.7% possibly_damaging(0.926) deleterious(0) deleterious(0.819) NULL SCN3A 6328 genome.wustl.edu 37 2 165950886 165950886 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006922.3 -1 reviewed p.A1512T 0.875 726 0.1% 521 26.7% 0 - benign(0) tolerated(0.58) neutral(0.005) superfamily_SSF81324 SCN9A 6335 genome.wustl.edu 37 2 167141209 167141209 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002977.3 -1 reviewed p.S576 1.000 270 0% 137 26.3% 3 33.3% - - - NULL SCN7A 6332 genome.wustl.edu 37 2 167301323 167301323 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002976.2 -1 validated p.E525D 1.000 65 0% 70 24.3% 0 - benign(0.31) tolerated(0.35) neutral(0.117) superfamily_Voltage-gated potassium channels XIRP2 129446 genome.wustl.edu 37 2 168099497 168099497 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152381.4 +1 validated p.G532V 0.061 153 0% 104 28.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL XIRP2 129446 genome.wustl.edu 37 2 168102483 168102483 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152381.4 +1 validated p.W1527* 1.000 646 0% 480 23.1% 0 - - - - HMMPfam_Xin XIRP2 129446 genome.wustl.edu 37 2 168107224 168107224 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152381.4 +1 validated p.N3108D 0.006 485 0.2% 388 26.3% 0 - benign(0.006) deleterious(0.05) neutral(0.345) NULL B3GALT1 8708 genome.wustl.edu 37 2 168725604 168725604 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020981.2 +1 reviewed p.A19T 1.000 337 0% 185 18.9% 0 - possibly_damaging(0.85) deleterious(0) deleterious(0.772) NULL B3GALT1 8708 genome.wustl.edu 37 2 168726104 168726104 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020981.2 +1 reviewed p.D185 0.998 186 0% 97 38.1% 1 100% - - - HMMPfam_Galactosyl_T STK39 27347 genome.wustl.edu 37 2 169023871 169023871 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013233.2 -1 reviewed p.T123I 1.000 292 0% 187 25.1% 10 30% possibly_damaging(0.898) tolerated(0.09) deleterious(0.651) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase G6PC2 57818 genome.wustl.edu 37 2 169764226 169764226 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021176.2 +1 reviewed p.S235 0.582 219 0% 116 27.6% 0 - - - - NULL G6PC2 57818 genome.wustl.edu 37 2 169764488 169764488 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021176.2 +1 reviewed p.L323M 0.030 406 0% 189 11.1% 0 - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL ABCB11 8647 genome.wustl.edu 37 2 169824973 169824973 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003742.2 -1 reviewed p.R680K 0.006 66 0% 66 28.8% 0 - benign(0.011) tolerated(1) neutral(0.001) NULL LRP2 4036 genome.wustl.edu 37 2 169997012 169997012 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004525.2 -1 reviewed p.M4384I 1.000 66 0% 43 30.2% 0 - probably_damaging(0.996) tolerated(0.34) deleterious(0.485) HMMSmart_EGF,superfamily_SSF57196 LRP2 4036 genome.wustl.edu 37 2 170044551 170044551 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004525.2 -1 reviewed p.R3086H 0.996 281 0% 176 29% 0 - benign(0.001) tolerated(0.31) neutral(0.027) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,superfamily_LDL_rcpt_classA_cys-rich LRP2 4036 genome.wustl.edu 37 2 170053496 170053496 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004525.2 -1 reviewed p.R2875C 0.011 112 0% 67 17.9% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,superfamily_LDL_rcpt_classA_cys-rich LRP2 4036 genome.wustl.edu 37 2 170083096 170083096 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004525.2 -1 reviewed p.D1744N 1.000 172 0% 130 33.1% 0 - possibly_damaging(0.772) tolerated(0.12) deleterious(0.547) NULL LRP2 4036 genome.wustl.edu 37 2 170092372 170092372 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004525.2 -1 reviewed p.R1633I 0.016 150 0% 93 20.4% 0 - probably_damaging(0.955) tolerated(0.35) neutral(0.419) HMMPfam_Ldl_recept_b,superfamily_SSF63825 PPIG 9360 genome.wustl.edu 37 2 170488416 170488416 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004792.2 +1 validated p.N301S 0.993 300 0% 214 33.6% 27 3.7% benign(0.271) tolerated(0.21) neutral(0.073) NULL PPIG 9360 genome.wustl.edu 37 2 170489707 170489707 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004792.2 +1 validated p.R323* 1.000 243 0% 221 23.5% 35 2.8% - - - NULL METTL5 29081 genome.wustl.edu 37 2 170681093 170681093 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014168.2 -1 provisional p.R5 0.998 100 0% 61 26.2% 82 53.6% - - - superfamily_SSF53335 MYO3B 140469 genome.wustl.edu 37 2 171238534 171238534 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138995.3 +1 validated p.R327M 1.000 232 0% 181 14.9% 3 0% possibly_damaging(0.867) tolerated(0.11) deleterious(0.608) superfamily_Protein kinase-like (PK-like),superfamily_P-loop containing nucleoside triphosphate hydrolases MYO3B 140469 genome.wustl.edu 37 2 171300527 171300527 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138995.3 +1 validated p.P901T 1.000 196 0% 118 26.3% 7 14.2% benign(0) tolerated(1) - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases GORASP2 26003 genome.wustl.edu 37 2 171811207 171811207 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015530.3 +1 reviewed p.R205H 1.000 213 0% 132 19.7% 100 45% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) HMMPfam_GRASP55_65 TLK1 9874 genome.wustl.edu 37 2 171906621 171906621 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012290.4 -1 validated p.R266* 1.000 116 0% 92 10.9% 28 0% - - - NULL DYNC1I2 1781 genome.wustl.edu 37 2 172571877 172571877 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001378.1 +1 provisional p.Q145H 1.000 37 0% 18 27.8% 54 35.1% benign(0.009) tolerated(0.19) neutral(0.050) NULL HAT1 8520 genome.wustl.edu 37 2 172841133 172841133 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003642.3 +1 reviewed p.D287E 1.000 169 0% 84 34.5% 43 20.9% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_Acyl_CoA_acyltransferase HAT1 8520 genome.wustl.edu 37 2 172841194 172841194 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003642.3 +1 reviewed p.G308* 1.000 164 0.6% 105 28.6% 54 18.5% - - - superfamily_Acyl_CoA_acyltransferase RAPGEF4 11069 genome.wustl.edu 37 2 173879244 173879244 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007023.3 +1 validated p.L571I 1.000 196 0% 110 28.2% 0 - possibly_damaging(0.581) tolerated(0.5) neutral(0.210) HMMPfam_RasGEF_N,HMMSmart_SM00229,superfamily_Ras GEF RAPGEF4 11069 genome.wustl.edu 37 2 173881137 173881137 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007023.3 +1 validated p.P624S 0.976 190 0.5% 92 30.4% 2 0% benign(0.052) tolerated(0.75) neutral(0.005) HMMSmart_SM00229,superfamily_Ras GEF ZAK 51776 genome.wustl.edu 37 2 174081932 174081932 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016653.2 +1 reviewed p.R314H 0.998 127 0% 73 17.8% 18 50% benign(0.091) deleterious(0.03) neutral(0.371) NULL ZAK 51776 genome.wustl.edu 37 2 174086219 174086219 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133646.2 +1 reviewed p.D443 0.676 111 0% 69 27.5% 9 22.2% - - - NULL ZAK 51776 genome.wustl.edu 37 2 174130854 174130854 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016653.2 +1 reviewed p.S593 1.000 127 0% 68 26.5% 12 41.6% - - - NULL SCRN3 79634 genome.wustl.edu 37 2 175265719 175265719 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024583.3 +1 validated p.L115I 1.000 144 0% 70 25.7% 14 35.7% possibly_damaging(0.869) tolerated(0.06) deleterious(0.659) NULL GPR155 151556 genome.wustl.edu 37 2 175311371 175311371 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001033045.2 -1 validated p.L661 1.000 191 0% 114 28.9% 1 0% - - - NULL GPR155 151556 genome.wustl.edu 37 2 175331283 175331283 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001033045.2 -1 validated p.L419F 1.000 343 0.3% 183 30.1% 0 - benign(0.012) tolerated(0.47) neutral(0.011) NULL WIPF1 7456 genome.wustl.edu 37 2 175436658 175436658 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001077269.1 -1 reviewed p.P292H 0.999 36 0% 19 26.3% 14 0% probably_damaging(0.986) deleterious(0.02) deleterious(0.818) NULL WIPF1 7456 genome.wustl.edu 37 2 175446054 175446054 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001077269.1 -1 reviewed p.S55 1.000 799 0.1% 457 16.6% 5 0% - - - NULL CHN1 1123 genome.wustl.edu 37 2 175673636 175673636 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001822.4 -1 reviewed p.A367T 1.000 1209 0.2% 741 13.1% 11 0% benign(0.006) tolerated(0.24) neutral(0.037) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP KIAA1715 80856 genome.wustl.edu 37 2 176829296 176829296 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030650.1 -1 validated p.E127* 1.000 224 0% 183 30.1% 6 16.6% - - - NULL HOXD9 3235 genome.wustl.edu 37 2 176988304 176988304 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014213.3 +1 reviewed p.L270I 1.000 37 0% 30 13.3% 4 0% possibly_damaging(0.696) tolerated(0.32) neutral(0.274) HMMPfam_Hox9_act HOXD4 3233 genome.wustl.edu 37 2 177017644 177017644 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014621.2 +1 reviewed p.H248N 1.000 218 0% 84 16.7% 1 0% benign(0.022) tolerated(0.79) neutral(0.002) NULL HOXD3 3232 genome.wustl.edu 37 2 177036312 177036312 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006898.4 +1 reviewed p.S203 0.976 72 0% 21 38.1% 0 - - - - HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like MTX2 10651 genome.wustl.edu 37 2 177194078 177194078 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006554.4 +1 reviewed p.I156S 1.000 174 0% 154 34.4% 72 34.7% benign(0.196) deleterious(0) neutral(0.463) superfamily_GST_C_like,HMMPfam_Tom37 LOC100128904 100128904 genome.wustl.edu 37 2 178483055 178483055 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_001722332.2 +1 model p.A44T 0.493 192 0% 78 38.5% 7 28.5% - - - NULL PDE11A 50940 genome.wustl.edu 37 2 178494177 178494178 + In_Frame_Ins INS - - GAT novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016953.3 -1 reviewed p.922in_frame_insS 0.003:0.040 - - - - - - - - - NULL OSBPL6 114880 genome.wustl.edu 37 2 179214053 179214053 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145739.1 +1 reviewed p.P368T 1.000 648 0% 369 24.7% 1 0% benign(0.054) deleterious(0.03) neutral(0.368) NULL OSBPL6 114880 genome.wustl.edu 37 2 179253861 179253861 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145739.1 +1 reviewed p.C765F 1.000 201 0% 125 33.6% 0 - probably_damaging(0.956) deleterious(0) deleterious(0.844) HMMPfam_Oxysterol_BP DFNB59 494513 genome.wustl.edu 37 2 179325879 179325879 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001042702.3 +1 reviewed p.G313* 1.000 313 0% 193 30.1% 1 100% - - - NULL TTN 7273 genome.wustl.edu 37 2 179395935 179395935 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000356127 -1 known p.R32566Q 1.000 632 0% 443 28% 0 - benign(0.003) - - HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179396827 179396827 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000356127 -1 known p.R32269* 1.000 179 0% 123 30.1% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179402568 179402568 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133378.4 -1 reviewed p.A30554V 1.000 91 0% 80 12.5% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179407409 179407409 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000356127 -1 known p.T29821I 1.000 635 0% 495 28.1% 0 - benign(0.109) - - HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179411753 179411753 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000356127 -1 known p.P28930H 1.000 496 0% 377 25.7% 1 100% probably_damaging(0.999) - - NULL TTN 7273 genome.wustl.edu 37 2 179417804 179417804 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000356127 -1 known p.Q27371H 0.007 134 0% 97 25.8% 0 - probably_damaging(0.992) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179417989 179417989 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000356127 -1 known p.L27310I 1.000 361 0% 267 32.2% 0 - probably_damaging(0.982) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179424316 179424316 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000356127 -1 known p.P26278H 1.000 423 0.2% 333 26.4% 0 - probably_damaging(0.999) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179426832 179426832 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133378.4 -1 reviewed p.S25441L 0.999 117 0.9% 89 28.1% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179429140 179429140 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000356127 -1 known p.R24670I 1.000 187 0% 127 28.3% 0 - probably_damaging(0.976) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179430241 179430241 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000356127 -1 known p.A24303V 1.000 353 0% 289 28.7% 0 - possibly_damaging(0.866) - - NULL TTN 7273 genome.wustl.edu 37 2 179431654 179431654 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000356127 -1 known p.S23832Y 1.000 266 0% 212 12.3% 0 - possibly_damaging(0.922) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179433118 179433118 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000356127 -1 known p.P23344H 1.000 129 0% 101 27.7% 0 - probably_damaging(0.999) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179436977 179436977 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000356127 -1 known p.V22058I 1.000 108 0% 64 31.2% 0 - benign(0.088) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179451375 179451375 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000356127 -1 known p.Y18848C 1.000 306 0% 251 29.1% 0 - probably_damaging(0.989) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179455159 179455159 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133378.4 -1 reviewed p.P17863H 0.996 231 0.4% 211 24.6% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179456586 179456586 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000356127 -1 known p.V17417A 0.123 134 0% 109 15.6% 0 - benign(0.099) - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179457611 179457611 + Silent SNP G G T rs180965342 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133378.4 -1 reviewed p.P17177Q 0.978 346 0% 288 31.6% 0 - - - - NULL TTN 7273 genome.wustl.edu 37 2 179481260 179481260 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000356127 -1 known p.P13518 0.116 308 0% 273 27.5% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060 TTN 7273 genome.wustl.edu 37 2 179486228 179486228 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000356127 -1 known p.R12540Q 0.999 176 0% 145 29.7% 0 - possibly_damaging(0.763) - - HMMSmart_SM00408,HMMSmart_SM00409 TTN 7273 genome.wustl.edu 37 2 179490113 179490113 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000356127 -1 known p.R12244H 1.000 371 0.3% 331 29.6% 0 - possibly_damaging(0.535) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179497050 179497050 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000356127 -1 known p.N11956T 1.000 51 0% 37 16.2% 0 - benign(0.29) - - HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179504790 179504790 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000356127 -1 known p.P11023T 1.000 171 0% 180 22.2% 0 - unknown(0) tolerated(0.6) - NULL TTN 7273 genome.wustl.edu 37 2 179534099 179534099 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000392423 -1 known e5+1 0.992 61 0% 57 35.1% 0 - - - - - TTN 7273 genome.wustl.edu 37 2 179540663 179540663 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000356127 -1 known p.A10207T 1.000 58 0% 39 25.6% 0 - unknown(0) - - NULL TTN 7273 genome.wustl.edu 37 2 179582697 179582697 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000356127 -1 known p.A7102T 0.560 706 0% 487 11.9% 0 - unknown(0) - - HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179583268 179583268 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000356127 -1 known p.V6945F 0.927 150 0% 106 25.5% 0 - unknown(0) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179588301 179588301 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000356127 -1 known p.E5932* 1.000 101 0% 89 30.3% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179613995 179613995 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133379.3 -1 reviewed p.T4378A 0.209 292 0% 242 29.8% 0 - benign(0.099) deleterious(0) neutral(0.452) NULL TTN 7273 genome.wustl.edu 37 2 179632741 179632741 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133379.3 -1 reviewed p.R3102I 1.000 270 0.4% 179 28.5% 0 - possibly_damaging(0.539) - - HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 TTN 7273 genome.wustl.edu 37 2 179643789 179643789 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133379.3 -1 reviewed p.D1340 0.981 129 0% 93 23.7% 0 - - - - HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 TTN 7273 genome.wustl.edu 37 2 179647025 179647025 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133379.3 -1 reviewed p.S1098 0.056 123 0% 80 28.7% 0 - - - - HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 CCDC141 285025 genome.wustl.edu 37 2 179701844 179701844 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173648.2 -1 provisional p.A793T 0.090 191 0% 146 32.9% 0 - benign(0.002) tolerated(0.26) neutral(0.034) NULL SESTD1 91404 genome.wustl.edu 37 2 180008500 180008500 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178123.4 -1 validated p.R223H 1.000 163 0% 118 32.2% 9 55.5% benign(0.36) deleterious(0) deleterious(0.559) NULL ZNF385B 151126 genome.wustl.edu 37 2 180383279 180383279 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152520.4 -1 validated p.V161 1.000 197 0% 173 11% 2 0% - - - HMMSmart_SM00451,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 UBE2E3 10477 genome.wustl.edu 37 2 181927672 181927672 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000410062 +1 known p.K227E 1.000 89 0% 46 23.9% 210 42.3% - - - NULL ITGA4 3676 genome.wustl.edu 37 2 182386944 182386944 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000885.4 +1 reviewed p.A650D 1.000 305 0% 232 33.6% 2 0% probably_damaging(0.963) deleterious(0.01) deleterious(0.811) HMMPfam_Integrin_alpha2,superfamily_Integrin domains SSFA2 6744 genome.wustl.edu 37 2 182763821 182763821 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130445.1 +1 validated p.S162N 1.000 212 0% 150 21.3% 15 20% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL PPP1R1C 151242 genome.wustl.edu 37 2 182928487 182928487 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080545.1 +1 provisional p.K70 1.000 387 0% 253 14.2% 0 - - - - HMMPfam_DARPP-32 PDE1A 5136 genome.wustl.edu 37 2 183050650 183050650 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005019.3 -1 validated p.N511 1.000 222 0% 175 35.4% 1 0% - - - superfamily_SSF109604 NCKAP1 10787 genome.wustl.edu 37 2 183800032 183800032 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_205842.1 -1 validated p.A929T 1.000 146 0% 109 27.5% 118 42.3% possibly_damaging(0.935) deleterious(0) deleterious(0.825) HMMPfam_Nckap1 DUSP19 142679 genome.wustl.edu 37 2 183951787 183951787 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080876.3 +1 validated p.V98A 1.000 275 0% 256 23.8% 1 0% possibly_damaging(0.628) deleterious(0) deleterious(0.663) HMMPfam_DSPc,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II NUP35 129401 genome.wustl.edu 37 2 184016286 184016286 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138285.3 +1 reviewed p.L150I 0.990 319 0% 197 29.4% 10 70% benign(0.277) tolerated(0.16) neutral(0.089) NULL FSIP2 401024 genome.wustl.edu 37 2 186672461 186672461 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000424728 +1 known p.C6143Y 0.892 253 0% 248 27% 0 - possibly_damaging(0.661) tolerated(0.1) deleterious(0.520) NULL FSIP2 401024 genome.wustl.edu 37 2 186678521 186678521 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000424728 +1 known p.P6693S 0.007 180 0% 184 31% 0 - benign(0.05) tolerated(0.13) neutral(0.256) NULL CALCRL 10203 genome.wustl.edu 37 2 188211016 188211016 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005795.4 -1 validated p.S427 0.859 102 0% 69 18.8% 2 0% - - - NULL TFPI 7035 genome.wustl.edu 37 2 188361802 188361802 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006287.4 -1 reviewed p.T42M 0.000 175 0% 129 30.2% 3 0% possibly_damaging(0.736) tolerated(0.06) deleterious(0.592) NULL COL5A2 1290 genome.wustl.edu 37 2 189923574 189923574 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000393.3 -1 reviewed e32+1 1.000 103 0% 76 23.7% 0 - - - - - COL5A2 1290 genome.wustl.edu 37 2 189927992 189927992 + Missense_Mutation SNP G G A rs145169816 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000393.3 -1 reviewed p.A592V 1.000 173 0% 108 28.7% 10 10% unknown(0) - - HMMPfam_Collagen COL5A2 1290 genome.wustl.edu 37 2 189940157 189940157 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000393.3 -1 reviewed p.R356* 1.000 176 0.6% 127 32.3% 12 0% - - - HMMPfam_Collagen OSGEPL1 64172 genome.wustl.edu 37 2 190626232 190626232 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022353.2 -1 validated p.S45R 1.000 183 0% 110 28.2% 5 20% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Actin-like ATPase domain PMS1 5378 genome.wustl.edu 37 2 190732574 190732574 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000534.4 +1 reviewed p.D798Y 0.184 198 0% 163 33.7% 11 45.4% benign(0.154) deleterious(0.02) neutral(0.397) NULL MSTN 2660 genome.wustl.edu 37 2 190922197 190922197 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005259.2 -1 reviewed p.K305 1.000 238 0% 161 35.4% 0 - - - - HMMPfam_TGF_beta,HMMSmart_SM00204,PatternScan_TGF_BETA_1,superfamily_Cystine-knot cytokines MSTN 2660 genome.wustl.edu 37 2 190925015 190925015 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005259.2 -1 reviewed p.L174M 1.000 332 0% 233 29.2% 2 0% benign(0.247) tolerated(0.24) neutral(0.062) HMMPfam_TGFb_propeptide HIBCH 26275 genome.wustl.edu 37 2 191125898 191125898 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014362.3 -1 reviewed p.M167I 1.000 413 0% 292 29.5% 42 30.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ECH,superfamily_ClpP/crotonase HIBCH 26275 genome.wustl.edu 37 2 191159289 191159289 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014362.3 -1 reviewed p.A96V 1.000 195 0% 149 27.5% 47 55.3% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_ECH,superfamily_ClpP/crotonase MFSD6 54842 genome.wustl.edu 37 2 191301135 191301135 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017694.3 +1 validated p.R127H 1.000 333 0% 200 31% 18 27.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter GLS 2744 genome.wustl.edu 37 2 191760335 191760335 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014905.3 +1 validated p.L163 1.000 229 0% 133 26.3% 12 0% - - - NULL GLS 2744 genome.wustl.edu 37 2 191765382 191765382 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014905.3 +1 validated p.E233A 0.996 130 0% 74 23% 27 14.8% benign(0.004) tolerated(0.12) neutral(0.261) superfamily_beta-lactamase/transpeptidase-like GLS 2744 genome.wustl.edu 37 2 191792194 191792194 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014905.3 +1 validated p.Q471* 1.000 205 0% 139 10.8% 14 14.2% - - - superfamily_beta-lactamase/transpeptidase-like,HMMPfam_Glutaminase MYO1B 4430 genome.wustl.edu 37 2 192252126 192252126 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130158.1 +1 validated p.S577 0.003 353 0% 187 25.7% 28 50% - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO1B 4430 genome.wustl.edu 37 2 192280925 192280925 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130158.1 +1 validated p.L1082I 1.000 230 0% 151 26.5% 61 40.9% benign(0.177) tolerated(0.21) neutral(0.060) HMMPfam_Myosin_TH1 SLC39A10 57181 genome.wustl.edu 37 2 196545296 196545296 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001127257.1 +1 validated p.R177H 0.088 364 0% 209 26.3% 9 100% benign(0.001) tolerated(0.06) neutral(0.323) NULL SLC39A10 57181 genome.wustl.edu 37 2 196545464 196545464 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001127257.1 +1 validated p.R233M 0.995 288 0% 206 27.7% 14 0% possibly_damaging(0.509) deleterious(0.02) deleterious(0.553) NULL SLC39A10 57181 genome.wustl.edu 37 2 196578267 196578267 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001127257.1 +1 validated p.K562 1.000 279 0% 190 30% 16 12.5% - - - HMMPfam_Zip SLC39A10 57181 genome.wustl.edu 37 2 196581657 196581657 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001127257.1 +1 validated p.G665* 1.000 394 0.3% 215 26.5% 20 15% - - - HMMPfam_Zip DNAH7 56171 genome.wustl.edu 37 2 196689150 196689150 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018897.2 -1 validated p.G3040 0.277 236 0% 190 10.5% 0 - - - - NULL DNAH7 56171 genome.wustl.edu 37 2 196752982 196752982 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018897.2 -1 validated p.K1802N 1.000 87 0% 45 33.3% 0 - possibly_damaging(0.513) deleterious(0) deleterious(0.617) NULL DNAH7 56171 genome.wustl.edu 37 2 196922795 196922795 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018897.2 -1 validated p.L21I 0.958 404 0.2% 265 12.1% 1 0% benign(0.085) deleterious(0) neutral(0.451) NULL HECW2 57520 genome.wustl.edu 37 2 197092941 197092941 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020760.1 -1 provisional p.L1268M 1.000 284 0% 202 29.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain HECW2 57520 genome.wustl.edu 37 2 197135951 197135951 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020760.1 -1 provisional p.R1101C 1.000 135 0% 87 27.6% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL HECW2 57520 genome.wustl.edu 37 2 197183614 197183614 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020760.1 -1 provisional p.R667Q 0.352 100 0% 36 22.2% 0 - possibly_damaging(0.91) tolerated(0.12) deleterious(0.623) NULL HECW2 57520 genome.wustl.edu 37 2 197194331 197194331 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020760.1 -1 provisional p.H180R 0.999 458 0% 305 28.2% 0 - possibly_damaging(0.564) tolerated(0.3) neutral(0.221) NULL GTF3C3 9330 genome.wustl.edu 37 2 197634742 197634742 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012086.2 -1 provisional p.R761H 0.997 171 0% 97 30.9% 22 77.2% probably_damaging(0.988) deleterious(0.05) deleterious(0.783) superfamily_TPR-like GTF3C3 9330 genome.wustl.edu 37 2 197636476 197636476 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012086.2 -1 provisional p.A752 0.677 146 0% 94 30.9% 19 78.9% - - - superfamily_TPR-like GTF3C3 9330 genome.wustl.edu 37 2 197637710 197637710 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012086.2 -1 provisional p.E667* 1.000 330 0% 229 28.4% 13 15.3% - - - superfamily_TPR-like GTF3C3 9330 genome.wustl.edu 37 2 197654777 197654777 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012086.2 -1 provisional p.P185S 1.000 233 0% 159 17% 9 33.3% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMSmart_SM00028,superfamily_Protein prenylyltransferase GTF3C3 9330 genome.wustl.edu 37 2 197657782 197657782 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012086.2 -1 provisional p.E103D 0.968 150 0% 107 31.8% 8 87.5% possibly_damaging(0.791) tolerated(0.41) neutral(0.311) NULL ANKRD44 91526 genome.wustl.edu 37 2 197943493 197943493 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153697.1 -1 provisional p.R503 1.000 140 0% 96 33.3% 0 - - - - HMMPfam_Ank,superfamily_ANK ANKRD44 91526 genome.wustl.edu 37 2 197948125 197948125 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153697.1 -1 provisional p.L450 0.920 303 0% 182 38.5% 1 0% - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ANKRD44 91526 genome.wustl.edu 37 2 197954691 197954691 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153697.1 -1 provisional p.R364I 1.000 254 0% 147 34.7% 1 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Ank,HMMSmart_ANK SF3B1 23451 genome.wustl.edu 37 2 198268383 198268383 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012433.2 -1 reviewed p.R549C 1.000 135 0% 89 25.8% 110 45.4% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat HSPD1 3329 genome.wustl.edu 37 2 198353833 198353833 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002156.4 -1 reviewed p.R370C 1.000 186 0% 114 31.6% 525 35% possibly_damaging(0.867) deleterious(0.02) deleterious(0.720) HMMPfam_Cpn60_TCP1,superfamily_GroEL-ATPase,superfamily_SSF52029 MARS2 92935 genome.wustl.edu 37 2 198570554 198570554 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138395.2 +1 validated p.R142L 1.000 50 0% 34 41.2% 7 28.5% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_tRNA-synt_1g,superfamily_SSF52374 MARS2 92935 genome.wustl.edu 37 2 198571612 198571612 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138395.2 +1 validated p.L495 0.981 136 0% 85 25.9% 11 45.4% - - - superfamily_tRNAsyn_1a_bind PLCL1 5334 genome.wustl.edu 37 2 198948591 198948591 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006226.3 +1 validated p.A19V 0.997 225 0% 162 34.6% 0 - possibly_damaging(0.797) tolerated(0.28) neutral(0.331) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 SATB2 23314 genome.wustl.edu 37 2 200136985 200136985 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015265.3 -1 reviewed p.E717 1.000 336 0% 234 25.2% 5 40% - - - NULL SGOL2 151246 genome.wustl.edu 37 2 201399720 201399720 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152524.5 +1 validated p.N45 0.954 360 0% 261 24.5% 5 40% - - - NULL SGOL2 151246 genome.wustl.edu 37 2 201399826 201399826 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152524.5 +1 validated p.L81I 0.473 845 0% 572 29.2% 3 66.6% possibly_damaging(0.621) tolerated(0.34) neutral(0.239) HMMPfam_Shugoshin_N SGOL2 151246 genome.wustl.edu 37 2 201438037 201438037 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152524.5 +1 validated p.S990P 0.261 343 0% 259 29.7% 25 56% probably_damaging(0.99) tolerated(0.31) deleterious(0.469) NULL AOX1 316 genome.wustl.edu 37 2 201499567 201499567 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001159.3 +1 reviewed p.L759I 1.000 141 0% 89 19.1% 1 0% benign(0.309) tolerated(0.24) neutral(0.134) HMMPfam_Ald_Xan_dh_C2,superfamily_Molybdenum cofactor-binding domain PPIL3 53938 genome.wustl.edu 37 2 201741681 201741681 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032472.3 -1 reviewed p.K111I 1.000 204 0% 103 25.2% 36 22.2% possibly_damaging(0.741) deleterious(0.01) deleterious(0.677) HMMPfam_Pro_isomerase,superfamily_CSA_PPIase NIF3L1 60491 genome.wustl.edu 37 2 201757979 201757979 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001136039.2 +1 validated p.T149 0.735 473 0% 299 27.4% 22 59% - - - HMMPfam_NIF3,superfamily_NIF3 (NGG1p interacting factor 3)-like CFLAR 8837 genome.wustl.edu 37 2 202027755 202027755 + Missense_Mutation SNP G G T rs112626120 TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000340870 +1 known p.K447N 0.000 37 0% 25 36% 0 - unknown(0) deleterious(0) - HMMSmart_CASc CASP10 843 genome.wustl.edu 37 2 202050747 202050747 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032977.3 +1 reviewed p.L83I 1.000 133 0% 70 21.4% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_DED,HMMSmart_DED,superfamily_DEATH_like ALS2CR11 151254 genome.wustl.edu 37 2 202466516 202466516 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152525.5 -1 validated p.N154 0.000 152 0.7% 103 36.9% 0 - - - - NULL TMEM237 65062 genome.wustl.edu 37 2 202494502 202494502 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001044385.1 -1 validated p.K209N 1.000 257 0% 141 29.8% 29 55.1% probably_damaging(1) tolerated(0.17) deleterious(0.559) NULL MPP4 58538 genome.wustl.edu 37 2 202545618 202545618 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033066.2 -1 reviewed p.K291I 1.000 39 0% 35 17.1% 0 - probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_SH3_2 ALS2 57679 genome.wustl.edu 37 2 202571591 202571591 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020919.3 -1 reviewed p.L1520M 0.998 363 0% 248 24.6% 5 0% probably_damaging(0.996) tolerated(0.46) deleterious(0.474) superfamily_VPS9 domain (Pfam 02204) ALS2 57679 genome.wustl.edu 37 2 202591543 202591543 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020919.3 -1 reviewed p.R1009I 1.000 133 0.8% 79 19% 3 33.3% benign(0.03) tolerated(0.21) neutral(0.045) NULL ALS2 57679 genome.wustl.edu 37 2 202609041 202609041 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020919.3 -1 reviewed p.R704* 1.000 313 0% 168 31.5% 1 0% - - - superfamily_DBL homology domain (DH-domain) CDK15 65061 genome.wustl.edu 37 2 202672664 202672664 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_139158.1 +1 provisional p.K68N 1.000 244 0% 116 12.9% 0 - probably_damaging(0.97) deleterious(0) deleterious(0.857) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase CDK15 65061 genome.wustl.edu 37 2 202700393 202700393 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_139158.1 +1 provisional p.S202N 1.000 151 0% 93 15.1% 0 - possibly_damaging(0.914) deleterious(0.03) deleterious(0.730) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase NOP58 51602 genome.wustl.edu 37 2 203162141 203162141 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015934.3 +1 provisional p.R371C 1.000 283 0% 205 31.7% 106 38.6% unknown(0) - - HMMPfam_Nop,superfamily_SSF89124 BMPR2 659 genome.wustl.edu 37 2 203417492 203417492 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001204.6 +1 reviewed p.E489D 1.000 202 0% 143 10.5% 12 16.6% possibly_damaging(0.849) tolerated(0.4) neutral(0.342) superfamily_Kinase_like,HMMPfam_Pkinase NBEAL1 65065 genome.wustl.edu 37 2 204000891 204000891 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001114132.1 +1 validated p.S1406 0.533 139 0% 105 25.7% 1 100% - - - NULL CYP20A1 57404 genome.wustl.edu 37 2 204143340 204143340 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_177538.2 +1 reviewed p.R242* 1.000 126 0% 87 21.8% 9 11.1% - - - superfamily_Cytochrome_P450 RAPH1 65059 genome.wustl.edu 37 2 204309655 204309655 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_213589.1 -1 validated p.S571I 1.000 531 0% 364 26.9% 8 87.5% probably_damaging(0.982) deleterious(0.01) deleterious(0.832) NULL RAPH1 65059 genome.wustl.edu 37 2 204354647 204354647 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_213589.1 -1 validated p.G131D 1.000 621 0% 357 26.3% 6 33.3% benign(0.116) tolerated(0.14) neutral(0.259) NULL CD28 940 genome.wustl.edu 37 2 204591686 204591686 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006139.2 +1 validated p.S128I 1.000 242 0% 146 32.9% 3 0% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) superfamily_Immunoglobulin CTLA4 1493 genome.wustl.edu 37 2 204735360 204735360 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005214.3 +1 reviewed p.A54V 1.000 340 0% 192 28.1% 1 0% benign(0.301) tolerated(0.39) neutral(0.109) HMMSmart_IGv,superfamily_SSF48726 ICOS 29851 genome.wustl.edu 37 2 204820447 204820447 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012092.3 +1 reviewed p.Q49H 0.298 395 0% 328 29.6% 0 - benign(0.305) deleterious(0.05) neutral(0.441) NULL NRP2 8828 genome.wustl.edu 37 2 206659526 206659526 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_201266.1 +1 reviewed p.S847Y 0.022 162 0% 107 11.2% 5 0% benign(0.005) deleterious(0.02) neutral(0.383) NULL NDUFS1 4719 genome.wustl.edu 37 2 206988970 206988970 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005006.5 -1 reviewed p.A708V 1.000 206 0% 129 29.5% 91 40.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF1982 ZDBF2 57683 genome.wustl.edu 37 2 207174441 207174441 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020923.1 +1 validated p.S1730L 0.000 190 0% 100 17% 0 - benign(0) tolerated(0.21) neutral(0.044) NULL ADAM23 8745 genome.wustl.edu 37 2 207395659 207395659 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003812.2 +1 reviewed p.P187Q 0.997 82 0% 52 21.2% 18 50% benign(0.002) tolerated(0.7) neutral(0.002) HMMPfam_Pep_M12B_propep LOC200726 200726 genome.wustl.edu 37 2 207509176 207509176 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001102659.1 +1 predicted p.F72L 1.000 92 0% 49 24.5% 0 - - - - NULL DYTN 391475 genome.wustl.edu 37 2 207570586 207570586 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001093730.1 -1 provisional p.G103D 0.014 94 0% 47 36.2% 0 - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) HMMPfam_efhand_1,superfamily_SSF47473 MDH1B 130752 genome.wustl.edu 37 2 207619866 207619866 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001039845.1 -1 validated p.T259 0.888 289 0.3% 171 10.5% 2 0% - - - superfamily_NAD(P)-binding Rossmann-fold domains CREB1 1385 genome.wustl.edu 37 2 208420438 208420438 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_134442.3 +1 reviewed p.V27I 1.000 207 0% 130 25.4% 16 31.2% benign(0) tolerated(0.57) neutral(0.006) NULL PIKFYVE 200576 genome.wustl.edu 37 2 209169029 209169029 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015040.3 +1 reviewed p.D485 0.976 494 0% 393 28.5% 0 - - - - "superfamily_""Winged helix"" DNA-binding domain" PIKFYVE 200576 genome.wustl.edu 37 2 209189668 209189668 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015040.3 +1 reviewed p.G789C 1.000 243 0% 160 30% 1 100% probably_damaging(1) tolerated(0.27) deleterious(0.533) HMMPfam_Cpn60_TCP1,superfamily_GroEL apical domain-like,superfamily_GroEL-intermediate domain like PIKFYVE 200576 genome.wustl.edu 37 2 209200605 209200605 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015040.3 +1 reviewed p.D1449Y 1.000 179 0% 133 27.8% 5 40% possibly_damaging(0.64) deleterious(0.04) deleterious(0.573) NULL PIKFYVE 200576 genome.wustl.edu 37 2 209204148 209204148 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015040.3 +1 reviewed p.R1560H 1.000 278 0% 177 24.9% 7 57.1% probably_damaging(0.999) tolerated(0.09) deleterious(0.787) NULL PTH2R 5746 genome.wustl.edu 37 2 209353765 209353765 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005048.2 +1 reviewed p.V369I 1.000 198 0% 122 13.1% 3 0% benign(0.006) tolerated(1) - HMMPfam_7tm_2,superfamily_SSF81321 RPE 6120 genome.wustl.edu 37 2 210884424 210884424 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_199229.1 +1 provisional p.A199D 1.000 126 0% 65 29.2% 36 33.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Ribul_P_3_epim,superfamily_Ribulose-phoshate binding barrel KANSL1L 151050 genome.wustl.edu 37 2 210892029 210892029 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152519.2 -1 validated p.G814 0.714 305 0% 135 23.7% 8 25% - - - NULL KANSL1L 151050 genome.wustl.edu 37 2 211018737 211018737 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152519.2 -1 validated p.K190N 0.919 378 0% 215 12.1% 8 25% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL CPS1 1373 genome.wustl.edu 37 2 211473148 211473148 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001122633.1 +1 reviewed p.N758 0.560 449 0% 399 24.6% 1 0% - - - HMMPfam_CPSase_L_D2,superfamily_Glutathione synthetase ATP-binding domain-like IKZF2 22807 genome.wustl.edu 37 2 213878537 213878537 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016260.2 -1 reviewed p.S278R 1.000 584 0% 458 28.2% 0 - possibly_damaging(0.868) tolerated(0.26) neutral(0.371) NULL IKZF2 22807 genome.wustl.edu 37 2 213921617 213921617 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016260.2 -1 reviewed p.V116I 1.000 196 0% 134 14.2% 1 0% benign(0.011) tolerated(0.66) neutral(0.003) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 SPAG16 79582 genome.wustl.edu 37 2 214162061 214162061 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024532.3 +1 validated p.A87T 0.028 387 0% 220 31.4% 3 0% benign(0.021) tolerated(0.65) neutral(0.004) superfamily_WD40 repeat-like BARD1 580 genome.wustl.edu 37 2 215646108 215646108 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000465.2 -1 reviewed p.Q164* 0.998 321 0.6% 287 31.4% 4 75% - - - NULL ABCA12 26154 genome.wustl.edu 37 2 215802258 215802258 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173076.2 -1 reviewed p.L2506 0.013 162 0% 116 21.6% 1 0% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases ABCA12 26154 genome.wustl.edu 37 2 215854295 215854295 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173076.2 -1 reviewed p.R1225 0.330 182 0% 117 20.5% 0 - - - - NULL ATIC 471 genome.wustl.edu 37 2 216198102 216198102 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004044.6 +1 reviewed p.D282Y 1.000 295 0.3% 206 12.6% 113 27.4% benign(0.31) deleterious(0.02) deleterious(0.480) HMMPfam_AICARFT_IMPCHas,HMMSmart_AICARFT_IMPCHas,superfamily_AICARFT_IMPCHas_formly FN1 2335 genome.wustl.edu 37 2 216230271 216230271 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_212482.1 -1 reviewed p.C2367 1.000 367 0% 231 31.6% 222 0.4% - - - HMMPfam_fn1,HMMSmart_SM00058,PatternScan_FN1_1,superfamily_Fibronectin type I module FN1 2335 genome.wustl.edu 37 2 216232615 216232615 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_212482.1 -1 reviewed p.G2330V 1.000 105 0% 62 32.3% 148 0% possibly_damaging(0.945) deleterious(0) deleterious(0.834) HMMPfam_fn1,HMMSmart_SM00058,PatternScan_FN1_1,superfamily_Fibronectin type I module FN1 2335 genome.wustl.edu 37 2 216289985 216289985 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_212482.1 -1 reviewed p.R290C 0.610 177 0% 143 32.2% 30 3.3% probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL PECR 55825 genome.wustl.edu 37 2 216930170 216930170 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018441.5 -1 validated p.T97A 0.038 216 0% 132 34.1% 1 100% benign(0) tolerated(0.64) neutral(0.003) HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains MARCH4 57574 genome.wustl.edu 37 2 217142395 217142395 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020814.2 -1 validated p.G289C 1.000 591 0.2% 307 20.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MARCH4 57574 genome.wustl.edu 37 2 217234573 217234573 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020814.2 -1 validated p.D137 0.998 61 0% 34 35.3% 0 - - - - NULL TNS1 7145 genome.wustl.edu 37 2 218712289 218712289 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022648.4 -1 reviewed p.R859Q 1.000 164 0% 108 11.1% 7 14.2% probably_damaging(0.957) deleterious(0.05) deleterious(0.746) NULL TNS1 7145 genome.wustl.edu 37 2 218712759 218712759 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022648.4 -1 reviewed p.Q702 1.000 72 0% 32 31.2% 11 0% - - - NULL TNS1 7145 genome.wustl.edu 37 2 218712887 218712889 + In_Frame_Del DEL GCT GCT - novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022648.4 -1 reviewed p.Q659in_frame_del 1.000:1.000:0.994 - - - - - - - - - NULL RUFY4 285180 genome.wustl.edu 37 2 218947919 218947919 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198483.3 +1 validated p.E308G 0.964 178 0% 114 16.7% 0 - probably_damaging(0.955) deleterious(0) deleterious(0.843) superfamily_FYVE/PHD zinc finger CXCR1 3577 genome.wustl.edu 37 2 219029293 219029293 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000634.2 -1 reviewed p.P214 0.000 246 0.4% 165 30.9% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like AAMP 14 genome.wustl.edu 37 2 219130399 219130399 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001087.3 -1 reviewed p.G296C 1.000 73 0% 47 25.5% 157 50.3% benign(0) tolerated(0.13) neutral(0.253) HMMSmart_WD40,superfamily_WD40_like CTDSP1 58190 genome.wustl.edu 37 2 219269109 219269109 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000428361 +1 known p.T250M 1.000 88 0% 29 17.2% 107 41.1% - - - HMMPfam_NIF,superfamily_HAD-like ZNF142 7701 genome.wustl.edu 37 2 219507746 219507746 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001105537.1 -1 validated p.R1165S 0.065 31 0% 17 23.5% 9 33.3% benign(0.003) tolerated(0.93) - NULL ZNF142 7701 genome.wustl.edu 37 2 219508604 219508604 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001105537.1 -1 validated p.R879C 0.999 145 0% 63 33.3% 6 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF142 7701 genome.wustl.edu 37 2 219509363 219509363 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001105537.1 -1 validated p.D626Y 0.415 61 0% 31 19.4% 8 50% possibly_damaging(0.819) deleterious(0.01) deleterious(0.715) NULL STK36 27148 genome.wustl.edu 37 2 219563960 219563960 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000431040 +1 known p.A424V 0.997 107 0% 65 36.9% 35 48.5% - - - superfamily_ARM repeat TTLL4 9654 genome.wustl.edu 37 2 219609835 219609835 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014640.4 +1 validated p.S555 0.290 469 0.2% 238 25.6% 8 37.5% - - - NULL TTLL4 9654 genome.wustl.edu 37 2 219614018 219614018 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000436668 +1 known p.T26A 0.669 316 0% 177 32.2% 16 56.2% - - - HMMPfam_TTL CCDC108 255101 genome.wustl.edu 37 2 219884415 219884415 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_194302.2 -1 provisional p.L1096M 0.842 16 0% 15 33.3% 1 100% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) NULL CCDC108 255101 genome.wustl.edu 37 2 219886632 219886632 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_194302.2 -1 provisional p.A1000 1.000 76 1.3% 41 26.8% 2 100% - - - NULL CCDC108 255101 genome.wustl.edu 37 2 219894235 219894235 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_194302.2 -1 provisional p.P514S 0.259 64 0% 28 25% 0 - benign(0.287) tolerated(0.36) neutral(0.108) NULL CCDC108 255101 genome.wustl.edu 37 2 219903171 219903171 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_194302.2 -1 provisional p.A95T 0.508 99 0% 51 29.4% 2 100% benign(0.035) deleterious(0) neutral(0.447) NULL ATG9A 79065 genome.wustl.edu 37 2 220087592 220087592 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001077198.1 -1 validated p.E541D 0.999 74 0% 39 12.8% 70 17.1% benign(0.202) deleterious(0.04) neutral(0.368) NULL ANKZF1 55139 genome.wustl.edu 37 2 220100508 220100508 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001042410.1 +1 validated p.R628W 0.846 132 0% 77 33.8% 59 47.4% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL PTPRN 5798 genome.wustl.edu 37 2 220166335 220166335 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002846.2 -1 reviewed p.L367 1.000 241 0% 102 22.5% 0 - - - - NULL SPEG 10290 genome.wustl.edu 37 2 220353258 220353258 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005876.4 +1 validated p.V2633M 0.945 52 0% 25 36% 0 - possibly_damaging(0.922) tolerated(0.07) deleterious(0.691) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin SPEG 10290 genome.wustl.edu 37 2 220354242 220354242 + Silent SNP G G A rs148685205 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005876.4 +1 validated p.S2834 0.028 78 0% 36 44.4% 0 - - - - NULL SPEG 10290 genome.wustl.edu 37 2 220355312 220355312 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005876.4 +1 validated p.L3035I 1.000 34 0% 16 31.2% 0 - possibly_damaging(0.653) tolerated(0.06) deleterious(0.552) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SPEG 10290 genome.wustl.edu 37 2 220356834 220356834 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005876.4 +1 validated p.L3155F 1.000 40 0% 10 40% 2 0% probably_damaging(0.962) deleterious(0.01) deleterious(0.810) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CHPF 79586 genome.wustl.edu 37 2 220404580 220404580 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024536.5 -1 validated p.T618M 0.998 234 0% 104 13.5% 172 23.2% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_CHGN TMEM198 130612 genome.wustl.edu 37 2 220413912 220413912 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005209.1 +1 provisional p.R261W 1.000 93 0% 55 20% 2 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL OBSL1 23363 genome.wustl.edu 37 2 220421015 220421015 + Splice_Site SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015311.2 -1 reviewed e14-1 1.000 93 0% 43 25.6% 0 - - - - - OBSL1 23363 genome.wustl.edu 37 2 220422065 220422065 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015311.2 -1 reviewed p.E1356* 1.000 6 0.000 6 0.667 1 0% - - - superfamily_SSF48726 OBSL1 23363 genome.wustl.edu 37 2 220428294 220428294 + Silent SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015311.2 -1 reviewed p.T821 0.643 125 0% 49 26.5% 3 0% - - - HMMSmart_IG,superfamily_SSF48726 INHA 3623 genome.wustl.edu 37 2 220439618 220439618 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002191.2 +1 reviewed p.L157 0.669 86 0% 51 27.5% 0 - - - - NULL SLC4A3 6508 genome.wustl.edu 37 2 220499180 220499180 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_201574.2 +1 validated p.V561M 1.000 195 0% 83 25.3% 1 0% probably_damaging(0.989) deleterious(0.03) deleterious(0.804) HMMPfam_Band_3_cyto,superfamily_Phoshotransferase/anion transport protein EPHA4 2043 genome.wustl.edu 37 2 222291194 222291194 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004438.3 -1 reviewed p.V946M 1.000 205 0% 121 22.3% 0 - benign(0) tolerated(1) - HMMSmart_SAM,superfamily_SAM_homology,HMMPfam_SAM_2 MRPL44 65080 genome.wustl.edu 37 2 224828614 224828614 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022915.3 +1 reviewed p.T264A 1.000 148 0% 105 25.7% 56 37.5% benign(0.019) tolerated(0.23) neutral(0.043) superfamily_SSF54768 CUL3 8452 genome.wustl.edu 37 2 225338991 225338991 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003590.3 -1 validated p.D760N 1.000 335 0% 216 25.9% 81 54.3% probably_damaging(1) deleterious(0) deleterious(0.945) "PatternScan_CULLIN_1,HMMPfam_Cullin_Nedd8,superfamily_""Winged helix"" DNA-binding domain" CUL3 8452 genome.wustl.edu 37 2 225371718 225371718 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003590.3 -1 validated p.L296I 1.000 100 0% 59 18.6% 52 21.1% possibly_damaging(0.913) tolerated(0.07) deleterious(0.683) HMMPfam_Cullin,superfamily_Cullin repeat CUL3 8452 genome.wustl.edu 37 2 225422491 225422491 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003590.3 -1 validated p.S50N 1.000 165 0% 98 35.7% 38 39.4% probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_Cullin,superfamily_Cullin repeat DOCK10 55619 genome.wustl.edu 37 2 225714292 225714292 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014689.2 -1 validated p.P723S 0.988 72 0% 41 29.3% 1 100% benign(0.009) tolerated(0.31) neutral(0.028) NULL NYAP2 57624 genome.wustl.edu 37 2 226446672 226446672 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020864.1 +1 validated p.R180I 1.000 458 0% 252 24.2% 0 - probably_damaging(0.991) deleterious(0.02) deleterious(0.827) NULL IRS1 3667 genome.wustl.edu 37 2 227662921 227662921 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005544.2 -1 reviewed p.N178K 1.000 51 0% 22 31.8% 3 0% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_IRS,HMMSmart_PTBI,superfamily_SSF50729 COL4A3 1285 genome.wustl.edu 37 2 228128611 228128611 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000091.3 +1 reviewed p.C422 0.883 85 0% 44 31.8% 0 - - - - NULL COL4A3 1285 genome.wustl.edu 37 2 228173948 228173948 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000091.3 +1 reviewed p.A1557T 0.997 106 0% 87 29.9% 0 - unknown(0) tolerated(0.17) - HMMPfam_C4,HMMSmart_SM00111,superfamily_C-type lectin-like TM4SF20 79853 genome.wustl.edu 37 2 228243814 228243814 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024795.3 -1 validated p.G57 1.000 335 0% 194 19.6% 1 0% - - - HMMPfam_L6_membrane TM4SF20 79853 genome.wustl.edu 37 2 228243844 228243844 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024795.3 -1 validated p.C47 1.000 371 0% 210 16.7% 1 0% - - - HMMPfam_L6_membrane WDR69 164781 genome.wustl.edu 37 2 228754597 228754597 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178821.1 +1 provisional p.E47* 1.000 151 0% 96 31.2% 0 - - - - superfamily_WD40 repeat-like SPHKAP 80309 genome.wustl.edu 37 2 228881746 228881746 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142644.1 -1 validated p.Q1275R 1.000 130 0.8% 67 16.4% 0 - possibly_damaging(0.713) tolerated(0.87) neutral(0.258) NULL SPHKAP 80309 genome.wustl.edu 37 2 228996762 228996762 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142644.1 -1 validated p.P24 0.000 239 0% 182 13.7% 0 - - - - NULL TRIP12 9320 genome.wustl.edu 37 2 230675682 230675682 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004238.1 -1 provisional p.S664I 1.000 228 0% 152 29.6% 43 39.5% possibly_damaging(0.84) deleterious(0) deleterious(0.766) superfamily_ARM-type_fold TRIP12 9320 genome.wustl.edu 37 2 230723710 230723710 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004238.1 -1 provisional p.D227Y 1.000 199 0% 111 36.9% 41 53.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SP110 3431 genome.wustl.edu 37 2 231036822 231036822 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080424.2 -1 reviewed p.S592Y 0.008 287 0% 170 23.5% 3 33.3% probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_Bromodomain SP140 11262 genome.wustl.edu 37 2 231175567 231175567 + Splice_Site SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007237.4 +1 validated e24+1 0.259 147 0% 101 10.9% 0 - - - - - SP140L 93349 genome.wustl.edu 37 2 231264878 231264878 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138402.4 +1 provisional p.G412R 0.000 156 0% 65 16.9% 1 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD SP100 6672 genome.wustl.edu 37 2 231314905 231314905 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080391.1 +1 validated p.A252V 0.000 462 0% 319 21% 16 12.5% benign(0.077) deleterious(0.04) neutral(0.354) NULL PSMD1 5707 genome.wustl.edu 37 2 231948391 231948391 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002807.2 +1 reviewed p.R546C 1.000 144 0.7% 63 30.2% 77 44.1% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat ARMC9 80210 genome.wustl.edu 37 2 232081416 232081416 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025139.3 +1 validated p.A138 0.012 493 0% 261 28.4% 11 45.4% - - - superfamily_ARM-type_fold ARMC9 80210 genome.wustl.edu 37 2 232141379 232141379 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000424740 +1 known p.T158M 0.314 197 0% 99 23.2% 8 25% - - - superfamily_ARM repeat ARMC9 80210 genome.wustl.edu 37 2 232209723 232209723 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025139.3 +1 validated p.L639M 0.021 177 0% 91 18.7% 2 0% benign(0.186) tolerated(0.26) neutral(0.052) NULL NCL 4691 genome.wustl.edu 37 2 232321430 232321430 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005381.2 -1 reviewed p.A539 0.999 299 0% 174 30.5% 593 40.8% - - - HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 NCL 4691 genome.wustl.edu 37 2 232322046 232322046 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000356936 -1 known p.Q91 0.000 43 0% 24 20.8% 2 50% - - - superfamily_RNA-binding domain RBD NCL 4691 genome.wustl.edu 37 2 232326683 232326683 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005381.2 -1 reviewed p.A61S 0.987 269 0.4% 151 25.2% 470 35.7% unknown(0) tolerated(0.17) - NULL DIS3L2 129563 genome.wustl.edu 37 2 233128076 233128076 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152383.4 +1 validated p.V529I 0.941 222 0% 121 22.3% 23 34.7% possibly_damaging(0.68) tolerated(0.11) deleterious(0.514) HMMPfam_RNB CHRNG 1146 genome.wustl.edu 37 2 233404729 233404729 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005199.4 +1 reviewed p.R28H 0.887 62 0% 34 17.6% 0 - possibly_damaging(0.88) deleterious(0.01) deleterious(0.749) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD GIGYF2 26058 genome.wustl.edu 37 2 233625284 233625284 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001103147.1 +1 reviewed p.S158 0.826 106 0% 58 31% 11 27.2% - - - NULL GIGYF2 26058 genome.wustl.edu 37 2 233633105 233633105 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000421778 +1 known p.M1I 1.000 483 0.4% 322 25.5% 1 0% benign(0.05) deleterious(0) neutral(0.448) NULL NEU2 4759 genome.wustl.edu 37 2 233898994 233898994 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005383.2 +1 reviewed p.L124M 1.000 93 0% 66 30.3% 0 - possibly_damaging(0.771) deleterious(0.01) deleterious(0.692) superfamily_Sialidase NEU2 4759 genome.wustl.edu 37 2 233899290 233899290 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005383.2 +1 reviewed p.A222 0.011 67 0% 30 30% 0 - - - - superfamily_Sialidase INPP5D 3635 genome.wustl.edu 37 2 234079188 234079188 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000359570 +1 known p.D613G 1.000 87 1.1% 33 24.2% 4 0% benign(0.003) tolerated(0.26) neutral(0.034) HMMSmart_SM00128,HMMPfam_Exo_endo_phos,superfamily_DNase I-like ATG16L1 55054 genome.wustl.edu 37 2 234183416 234183416 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030803.6 +1 validated p.C316R 0.221 88 0% 58 22.4% 18 55.5% possibly_damaging(0.952) tolerated(0.34) neutral(0.419) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 ATG16L1 55054 genome.wustl.edu 37 2 234202917 234202917 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030803.6 +1 validated p.A582V 0.998 165 0% 60 11.7% 15 20% unknown(0) tolerated(0.06) - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 DGKD 8527 genome.wustl.edu 37 2 234368442 234368442 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152879.2 +1 reviewed p.V912M 1.000 136 0% 70 32.9% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DAGK_acc,HMMSmart_SM00045 UGT1A9 54600 genome.wustl.edu 37 2 234581225 234581225 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021027.2 +1 reviewed p.E215D 0.726 1183 0.3% 1057 30% 0 - benign(0.023) tolerated(0.19) neutral(0.051) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT1A6 54578 genome.wustl.edu 37 2 234602356 234602356 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001072.3 +1 reviewed p.V236I 0.041 1072 0% 676 30.3% 0 - benign(0.001) tolerated(0.42) neutral(0.014) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase HJURP 55355 genome.wustl.edu 37 2 234761226 234761226 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000454020 -1 known p.R67* 0.000 177 0% 88 29.5% 10 40% - - - NULL LOC100130859 100130859 genome.wustl.edu 37 2 234863718 234863718 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_001715340.1 -1 model p.T114I 0.000 113 0% 64 25% 0 - - - - NULL TRPM8 79054 genome.wustl.edu 37 2 234916724 234916724 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024080.4 +1 validated p.R1081* 1.000 715 0.1% 492 21.7% 0 - - - - NULL SPP2 6694 genome.wustl.edu 37 2 234978631 234978631 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006944.2 +1 reviewed p.A204S 0.238 613 0% 346 27.2% 0 - benign(0.316) tolerated(0.11) neutral(0.371) HMMPfam_Spp-24 SH3BP4 23677 genome.wustl.edu 37 2 235951300 235951300 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014521.2 +1 reviewed p.N629 0.827 156 0% 64 23.4% 42 38% - - - NULL AGAP1 116987 genome.wustl.edu 37 2 236653482 236653482 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001037131.1 +1 validated p.Q179H 1.000 87 0% 61 32.8% 4 75% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Miro,superfamily_P-loop containing nucleoside triphosphate hydrolases AGAP1 116987 genome.wustl.edu 37 2 236659077 236659077 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001037131.1 +1 validated p.T206 0.015 174 0% 102 29.4% 5 40% - - - HMMSmart_SM00173,HMMSmart_SM00175,superfamily_P-loop containing nucleoside triphosphate hydrolases AGAP1 116987 genome.wustl.edu 37 2 236706450 236706450 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001037131.1 +1 validated p.G241* 0.999 608 0% 272 10.7% 17 11.7% - - - NULL IQCA1 79781 genome.wustl.edu 37 2 237240054 237240054 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024726.3 -1 provisional p.T774M 0.000 436 0% 245 28.6% 0 - possibly_damaging(0.771) deleterious(0.04) deleterious(0.635) superfamily_P-loop containing nucleoside triphosphate hydrolases IQCA1 79781 genome.wustl.edu 37 2 237396759 237396759 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024726.3 -1 provisional p.R178C 0.998 18 0% 18 22.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CXCR7 57007 genome.wustl.edu 37 2 237489597 237489597 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020311.2 +1 reviewed p.V163 0.000 473 0% 211 28.9% 14 0% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like COL6A3 1293 genome.wustl.edu 37 2 238275403 238275403 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004369.3 -1 reviewed p.S1809 0.800 291 0% 147 17.7% 24 0% - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like COL6A3 1293 genome.wustl.edu 37 2 238275811 238275811 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004369.3 -1 reviewed p.G1673 0.000 105 0% 56 10.7% 22 0% - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like COL6A3 1293 genome.wustl.edu 37 2 238296600 238296600 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004369.3 -1 reviewed p.G313R 0.001 122 0% 63 30.2% 1 0% unknown(0) - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like COL6A3 1293 genome.wustl.edu 37 2 238303578 238303578 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004369.3 -1 reviewed p.G121* 1.000 113 0% 67 19.4% 0 - - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like COL6A3 1293 genome.wustl.edu 37 2 238303634 238303634 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004369.3 -1 reviewed p.V102G 1.000 113 0% 75 30.7% 0 - unknown(0) - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like COL6A3 1293 genome.wustl.edu 37 2 238303759 238303759 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004369.3 -1 reviewed p.E60 1.000 61 0% 46 17.4% 0 - - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like LRRFIP1 9208 genome.wustl.edu 37 2 238672115 238672115 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001137552.1 +1 validated p.T587A 0.000 166 0% 78 26.9% 51 60.7% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL ILKAP 80895 genome.wustl.edu 37 2 239079501 239079501 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000450411 -1 known p.P191H 0.000 167 0% 109 27.5% 1 0% unknown(0) - - NULL ILKAP 80895 genome.wustl.edu 37 2 239090728 239090728 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030768.2 -1 reviewed p.Q272* 1.000 482 0% 269 29% 32 6.2% - - - HMMSmart_PP2C_SIG,HMMSmart_PP2Cc,superfamily_PP2C-related,HMMPfam_PP2C PER2 8864 genome.wustl.edu 37 2 239180087 239180087 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022817.2 -1 reviewed p.S213F 0.895 176 0% 96 28.1% 12 41.6% possibly_damaging(0.789) tolerated(0.7) neutral(0.298) HMMSmart_SM00091,superfamily_PYP-like sensor domain (PAS domain) TRAF3IP1 26146 genome.wustl.edu 37 2 239233994 239233994 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015650.3 +1 validated p.E57D 1.000 124 0% 83 27.7% 10 30% benign(0.006) tolerated(0.06) neutral(0.323) HMMPfam_MIP-T3 TRAF3IP1 26146 genome.wustl.edu 37 2 239261825 239261825 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015650.3 +1 validated p.V529 0.004 538 0% 280 27.9% 24 41.6% - - - HMMPfam_MIP-T3 HDAC4 9759 genome.wustl.edu 37 2 240066297 240066297 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006037.3 -1 reviewed p.R283C 1.000 98 0% 41 19.5% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NDUFA10 4705 genome.wustl.edu 37 2 240944633 240944633 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004544.3 -1 reviewed p.R295Q 0.997 562 0% 310 25.5% 193 53.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL PRR21 643905 genome.wustl.edu 37 2 240982159 240982159 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080835.1 -1 provisional p.R81W 0.000 199 0% 111 25.2% 0 - possibly_damaging(0.737) tolerated(0.07) deleterious(0.589) NULL MTERFD2 130916 genome.wustl.edu 37 2 242038982 242038982 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182501.3 -1 validated p.R117* 0.001 205 0% 110 21.8% 9 33.3% - - - HMMPfam_mTERF PASK 23178 genome.wustl.edu 37 2 242054538 242054538 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015148.2 -1 validated p.G1085S 1.000 223 0.4% 89 32.6% 8 75% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HDLBP 3069 genome.wustl.edu 37 2 242174614 242174614 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000373292 -1 known p.P831S 0.983 91 0% 40 22.5% 511 7.4% - - - HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) HDLBP 3069 genome.wustl.edu 37 2 242181874 242181874 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005336.3 -1 validated e15+1 1.000 43 0% 20 20% 122 98.3% - - - - FARP2 9855 genome.wustl.edu 37 2 242344257 242344257 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014808.2 +1 validated e3+1 1.000 154 0% 94 16% 0 - - - - - FARP2 9855 genome.wustl.edu 37 2 242401952 242401952 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014808.2 +1 validated p.D534 1.000 132 0% 71 26.8% 4 25% - - - superfamily_DBL homology domain (DH-domain) THAP4 51078 genome.wustl.edu 37 2 242573144 242573144 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015963.5 -1 validated p.R143M 0.003 73 0% 37 35.1% 47 48.9% benign(0.301) deleterious(0) deleterious(0.537) NULL DTYMK 1841 genome.wustl.edu 37 2 242617946 242617946 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012145.3 -1 validated p.R150H 0.993 91 0% 39 23.1% 118 48.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Thymidylate_kin,superfamily_P-loop containing nucleoside triphosphate hydrolases CNTN6 27255 genome.wustl.edu 37 3 1337344 1337344 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014461.2 +1 reviewed p.R172* 0.143 198 0% 128 25.8% 0 - - - - HMMSmart_IG,superfamily_SSF48726 CNTN4 152330 genome.wustl.edu 37 3 3067883 3067883 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175607.1 +1 reviewed p.D528 1.000 147 0% 121 14.9% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin CRBN 51185 genome.wustl.edu 37 3 3197928 3197928 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016302.3 -1 reviewed p.R242H 1.000 152 0% 90 25.6% 17 35.2% benign(0.314) tolerated(0.13) neutral(0.351) HMMPfam_LON,HMMSmart_SM00464 SUMF1 285362 genome.wustl.edu 37 3 4494730 4494730 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182760.3 -1 reviewed p.V92F 1.000 88 0% 61 18% 32 31.2% possibly_damaging(0.951) tolerated(0.08) deleterious(0.694) HMMPfam_DUF323 ITPR1 3708 genome.wustl.edu 37 3 4699825 4699825 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001099952.2 +1 reviewed p.D338 0.190 328 0% 198 21.2% 2 0% - - - HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMSmart_SM00472 ITPR1 3708 genome.wustl.edu 37 3 4767259 4767259 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000356617 +1 known p.A1718 0.989 96 0% 40 22.5% 0 - - - - NULL BHLHE40 8553 genome.wustl.edu 37 3 5024938 5024938 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003670.2 +1 reviewed p.R267H 0.101 158 0% 86 30.2% 80 37.5% benign(0.008) tolerated(0.1) neutral(0.286) NULL GRM7 2917 genome.wustl.edu 37 3 7340422 7340422 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181874.2 +1 reviewed p.R263M 1.000 333 0% 219 30.1% 0 - benign(0.037) tolerated(0.07) neutral(0.321) HMMPfam_ANF_receptor,superfamily_SSF53822 GRM7 2917 genome.wustl.edu 37 3 7494418 7494418 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181874.2 +1 reviewed p.Y433 0.976 200 0% 181 28.7% 0 - - - - HMMPfam_ANF_receptor,superfamily_SSF53822 C3orf32 51066 genome.wustl.edu 37 3 8667953 8667953 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015931.1 -1 predicted p.E221D 1.000 395 0% 220 25% 1 0% possibly_damaging(0.918) tolerated(0.45) neutral(0.381) NULL OXTR 5021 genome.wustl.edu 37 3 8808963 8808963 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000916.3 -1 reviewed p.A304V 1.000 29 0% 14 64.3% 0 - probably_damaging(0.989) tolerated(0.09) deleterious(0.736) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SRGAP3 9901 genome.wustl.edu 37 3 9106266 9106266 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014850.2 -1 validated e5-1 1.000 144 0% 73 28.8% 0 - - - - - SRGAP3 9901 genome.wustl.edu 37 3 9166472 9166472 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014850.2 -1 validated p.S66I 1.000 207 0% 90 22.2% 7 42.8% possibly_damaging(0.675) deleterious(0.01) deleterious(0.645) HMMPfam_FCH,HMMSmart_SM00055 SETD5 55209 genome.wustl.edu 37 3 9476118 9476118 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080517.1 +1 provisional p.C93Y 1.000 115 0% 91 33% 21 47.6% possibly_damaging(0.659) deleterious(0) deleterious(0.677) NULL SETD5 55209 genome.wustl.edu 37 3 9488863 9488863 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080517.1 +1 provisional p.T552A 0.265 454 0% 236 12.7% 30 23.3% benign(0) tolerated(0.54) neutral(0.007) NULL CPNE9 151835 genome.wustl.edu 37 3 9771208 9771208 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153635.2 +1 validated p.D498 1.000 226 0% 111 27.9% 0 - - - - superfamily_SSF53300 BRPF1 7862 genome.wustl.edu 37 3 9781322 9781322 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001003694.1 +1 reviewed p.C413 0.988 104 0% 47 17% 11 36.3% - - - HMMSmart_PHD OGG1 4968 genome.wustl.edu 37 3 9792780 9792780 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016821.2 +1 reviewed p.R97C 0.014 58 0% 32 12.5% 10 30% possibly_damaging(0.84) deleterious(0.02) deleterious(0.705) superfamily_TFIID_C/glycos_N,HMMPfam_OGG_N OGG1 4968 genome.wustl.edu 37 3 9793509 9793509 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000352937 +1 known p.L53I 1.000 239 0% 136 13.2% 19 26.3% - - - HMMPfam_HhH-GPD,HMMSmart_SM00478,superfamily_DNA-glycosylase TADA3 10474 genome.wustl.edu 37 3 9822193 9822193 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006354.2 -1 reviewed p.R383W 1.000 84 1.2% 33 36.4% 167 37.1% benign(0.068) deleterious(0) neutral(0.449) HMMPfam_Ada3 TTLL3 26140 genome.wustl.edu 37 3 9874855 9874855 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001025930.2 +1 provisional p.P541H 0.968 101 2% 51 39.2% 7 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RPUSD3 285367 genome.wustl.edu 37 3 9880825 9880825 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173659.3 -1 validated p.V252A 0.009 126 0% 68 32.4% 53 30.1% benign(0.008) tolerated(0.85) neutral(0.001) HMMPfam_PseudoU_synth_2,superfamily_Pseudouridine synthase IL17RE 132014 genome.wustl.edu 37 3 9948406 9948406 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153480.1 +1 reviewed p.R128H 0.004 313 0% 172 17.4% 0 - benign(0.09) tolerated(0.09) neutral(0.303) NULL FANCD2 2177 genome.wustl.edu 37 3 10094113 10094113 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033084.3 +1 reviewed p.R530* 1.000 490 0% 279 31.5% 8 12.5% - - - NULL IRAK2 3656 genome.wustl.edu 37 3 10264436 10264436 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001570.3 +1 reviewed p.T377M 0.771 218 0% 105 12.4% 2 0% benign(0.032) deleterious(0.03) neutral(0.366) superfamily_Kinase_like SEC13 6396 genome.wustl.edu 37 3 10353685 10353685 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_183352.1 -1 reviewed p.G138 0.999 26 0% 16 50% 220 42.2% - - - superfamily_WD40_like ATP2B2 491 genome.wustl.edu 37 3 10401790 10401790 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001331.2 -1 reviewed p.G559 0.013 92 0% 55 25.5% 0 - - - - HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M ATP2B2 491 genome.wustl.edu 37 3 10419938 10419938 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001331.2 -1 reviewed p.A400V 1.000 38 0% 12 33.3% 0 - benign(0.057) tolerated(0.74) neutral(0.005) HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transmembrane domain M ATP2B2 491 genome.wustl.edu 37 3 10442718 10442718 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001331.2 -1 reviewed p.L234I 1.000 71 0% 46 21.7% 0 - benign(0.365) tolerated(0.11) neutral(0.388) HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_Calcium ATPase transmembrane domain M SLC6A1 6529 genome.wustl.edu 37 3 11067538 11067538 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003042.3 +1 validated p.N310T 1.000 257 0% 120 19.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_SNF SLC6A1 6529 genome.wustl.edu 37 3 11071023 11071023 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003042.3 +1 validated p.L436 0.997 92 0% 42 19% 0 - - - - HMMPfam_SNF RAF1 5894 genome.wustl.edu 37 3 12633236 12633236 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002880.3 -1 reviewed p.Q388 1.000 211 0% 123 30.1% 70 50% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CAND2 23066 genome.wustl.edu 37 3 12858887 12858887 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012298.2 +1 validated p.A726V 0.884 50 0% 24 25% 0 - benign(0.054) tolerated(0.3) neutral(0.032) NULL NUP210 23225 genome.wustl.edu 37 3 13376972 13376972 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024923.2 -1 reviewed p.S1275 0.010 63 0% 32 37.5% 11 45.4% - - - NULL NUP210 23225 genome.wustl.edu 37 3 13383587 13383587 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024923.2 -1 reviewed p.V1001M 0.996 93 0% 32 18.8% 13 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL SLC6A6 6533 genome.wustl.edu 37 3 14518800 14518800 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001134367.1 +1 validated p.A433T 1.000 93 0% 41 31.7% 39 30.7% probably_damaging(0.981) deleterious(0.04) deleterious(0.774) HMMPfam_SNF SLC6A6 6533 genome.wustl.edu 37 3 14523290 14523290 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001134367.1 +1 validated p.L555I 0.997 98 0% 47 23.4% 42 30.9% benign(0) tolerated(0.46) neutral(0.012) HMMPfam_SNF C3orf20 84077 genome.wustl.edu 37 3 14746064 14746064 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032137.4 +1 validated p.K367E 0.001 539 0% 319 12.5% 0 - benign(0.035) deleterious(0.02) neutral(0.385) NULL C3orf20 84077 genome.wustl.edu 37 3 14801446 14801446 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032137.4 +1 validated p.L765M 0.324 80 0% 44 36.4% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL FGD5 152273 genome.wustl.edu 37 3 14862827 14862827 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152536.3 +1 validated p.R750Q 1.000 312 0% 162 37.7% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FGD5 152273 genome.wustl.edu 37 3 14974148 14974148 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152536.3 +1 validated p.G1421D 0.914 231 0% 169 24.3% 7 0% benign(0.137) tolerated(0.09) neutral(0.308) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ZFYVE20 64145 genome.wustl.edu 37 3 15119633 15119633 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022340.2 -1 validated p.S316I 0.015 162 0% 110 12.7% 8 50% benign(0.023) tolerated(0.17) neutral(0.060) NULL HACL1 26061 genome.wustl.edu 37 3 15628054 15628054 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012260.2 -1 validated p.A146V 0.366 147 0% 109 10.1% 16 25% benign(0) tolerated(0.59) neutral(0.004) HMMPfam_TPP_enzyme_N,superfamily_SSF52518 ANKRD28 23243 genome.wustl.edu 37 3 15736693 15736693 + Splice_Site SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015199.2 -1 provisional e16+2 1.000 59 0% 47 42.6% 0 - - - - - ANKRD28 23243 genome.wustl.edu 37 3 15737718 15737718 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015199.2 -1 provisional p.P498S 1.000 58 0% 38 31.6% 14 28.5% probably_damaging(0.976) deleterious(0.04) deleterious(0.767) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat GALNTL2 117248 genome.wustl.edu 37 3 16250125 16250125 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_054110.4 +1 validated p.P343S 1.000 334 0% 162 24.1% 1 0% possibly_damaging(0.733) tolerated(0.98) neutral(0.268) HMMPfam_Glycos_transf_2,superfamily_SSF53448 GALNTL2 117248 genome.wustl.edu 37 3 16254266 16254266 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_054110.4 +1 validated p.S463N 1.000 84 0% 39 43.6% 0 - possibly_damaging(0.61) tolerated(0.35) neutral(0.232) superfamily_SSF53448 GALNTL2 117248 genome.wustl.edu 37 3 16261019 16261019 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_054110.4 +1 validated p.P501H 0.001 539 0.2% 263 31.6% 1 0% benign(0.001) tolerated(0.58) neutral(0.005) superfamily_RicinB_like DPH3 285381 genome.wustl.edu 37 3 16305692 16305692 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_206831.2 -1 reviewed p.C51* 1.000 41 0% 24 41.7% 15 20% - - - HMMPfam_zf-CSL DAZL 1618 genome.wustl.edu 37 3 16635170 16635170 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001351.2 -1 reviewed p.P243S 1.000 131 0% 86 11.6% 0 - benign(0.004) tolerated(0.22) neutral(0.042) NULL PLCL2 23228 genome.wustl.edu 37 3 17109488 17109488 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015184.5 +1 validated p.K919N 1.000 372 0% 224 28.1% 25 72% possibly_damaging(0.453) tolerated(0.06) deleterious(0.471) NULL TBC1D5 9779 genome.wustl.edu 37 3 17255700 17255700 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001134381.1 -1 validated p.S606Y 1.000 134 0% 90 25.6% 18 27.7% possibly_damaging(0.916) deleterious(0.01) deleterious(0.772) NULL SATB1 6304 genome.wustl.edu 37 3 18436153 18436153 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001131010.1 -1 validated p.L336R 1.000 249 0% 144 22.9% 3 33.3% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL KCNH8 131096 genome.wustl.edu 37 3 19492778 19492778 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144633.2 +1 reviewed p.T569 1.000 236 0% 167 26.9% 0 - - - - HMMPfam_cNMP_binding,HMMSmart_cNMP,superfamily_cNMP_binding EFHB 151651 genome.wustl.edu 37 3 19975026 19975026 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144715.3 -1 validated p.A162V 0.000 439 0% 260 23.8% 1 0% benign(0) tolerated(0.87) neutral(0.001) NULL UBE2E1 7324 genome.wustl.edu 37 3 23848884 23848884 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003341.3 +1 reviewed p.S42T 1.000 131 0% 55 29.1% 117 42.7% benign(0) tolerated(0.26) neutral(0.034) superfamily_UBC-like RARB 5915 genome.wustl.edu 37 3 25635198 25635198 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000965.3 +1 reviewed p.D331N 1.000 242 0% 136 30.1% 1 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Hormone_recep,HMMSmart_HOLI,superfamily_Str_ncl_receptor TOP2B 7155 genome.wustl.edu 37 3 25662277 25662277 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001068.2 -1 reviewed p.I915L 0.999 81 0% 68 27.9% 50 8% probably_damaging(0.966) deleterious(0.02) deleterious(0.791) HMMPfam_DNA_topoisoIV,HMMSmart_TOP4c,superfamily_Topo_IIA_cen TOP2B 7155 genome.wustl.edu 37 3 25668756 25668756 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001068.2 -1 reviewed p.K641N 1.000 402 0% 317 26.2% 34 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_TOP2c,superfamily_Topo_IIA_cen OXSM 54995 genome.wustl.edu 37 3 25832875 25832875 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017897.2 +1 reviewed p.A122T 1.000 229 0% 142 32.4% 15 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_ketoacyl-synt,superfamily_Thiolase-like NEK10 152110 genome.wustl.edu 37 3 27385817 27385817 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_199347.2 -1 validated p.R103H 1.000 63 0% 41 22% 0 - benign(0) tolerated(0.53) neutral(0.007) superfamily_ARM repeat SLC4A7 9497 genome.wustl.edu 37 3 27418278 27418278 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003615.3 -1 validated p.V1208M 0.929 143 0% 97 22.7% 10 50% benign(0) tolerated(0.49) neutral(0.011) NULL SLC4A7 9497 genome.wustl.edu 37 3 27444629 27444629 + Splice_Site SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003615.3 -1 validated e15+1 1.000 443 0% 311 24.8% 0 - - - - - EOMES 8320 genome.wustl.edu 37 3 27758689 27758689 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005442.2 -1 reviewed p.L645M 1.000 318 0% 207 28.5% 8 50% benign(0.014) tolerated(0.09) neutral(0.297) NULL TGFBR2 7048 genome.wustl.edu 37 3 30686366 30686366 + Silent SNP C C A rs112864356 TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001024847.2 +1 reviewed p.T99 0.002 263 0% 165 29.1% 5 20% - - - HMMPfam_ecTbetaR2,superfamily_Snake toxin-like STT3B 201595 genome.wustl.edu 37 3 31663636 31663636 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178862.1 +1 provisional p.R459* 1.000 446 0% 273 27.1% 66 12.1% - - - HMMPfam_STT3 STT3B 201595 genome.wustl.edu 37 3 31677491 31677491 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178862.1 +1 provisional p.R806C 1.000 154 0% 95 34.7% 86 75.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL GPD1L 23171 genome.wustl.edu 37 3 32207339 32207339 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015141.3 +1 validated p.C331 1.000 109 0% 47 34% 21 47.6% - - - HMMPfam_NAD_Gly3P_dh_C,superfamily_6DGDH_C_like TRIM71 131405 genome.wustl.edu 37 3 32927537 32927537 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001039111.1 +1 provisional p.R378C 1.000 57 0% 26 38.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CCR4 1233 genome.wustl.edu 37 3 32995640 32995640 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005508.4 +1 reviewed p.K242N 1.000 117 0% 68 27.9% 2 0% benign(0.334) deleterious(0) deleterious(0.549) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GLB1 2720 genome.wustl.edu 37 3 33058289 33058289 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000404.2 -1 reviewed p.N464S 1.000 265 0% 175 29.1% 188 46.2% benign(0.01) tolerated(0.5) neutral(0.011) NULL SUSD5 26032 genome.wustl.edu 37 3 33194377 33194377 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015551.1 -1 validated p.L583M 0.983 142 0% 92 30.4% 0 - probably_damaging(0.998) tolerated(0.08) deleterious(0.774) NULL CLASP2 23122 genome.wustl.edu 37 3 33580287 33580287 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015097.1 -1 validated p.G1184 0.634 90 0% 57 28.1% 27 48.1% - - - superfamily_ARM repeat PDCD6IP 10015 genome.wustl.edu 37 3 33877666 33877666 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013374.4 +1 validated p.R322Q 1.000 329 0.3% 192 20.8% 79 41.7% probably_damaging(0.996) tolerated(0.17) deleterious(0.520) HMMPfam_BRO1 ARPP21 10777 genome.wustl.edu 37 3 35770848 35770848 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016300.4 +1 validated p.P427S 0.943 123 0% 73 15.1% 0 - benign(0.001) tolerated(0.38) neutral(0.018) NULL STAC 6769 genome.wustl.edu 37 3 36527723 36527723 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003149.1 +1 provisional p.D223 0.222 258 0% 147 32% 1 0% - - - NULL TRANK1 9881 genome.wustl.edu 37 3 36872756 36872756 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014831.2 -1 provisional p.G2179V 0.997 340 0% 137 10.9% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TRANK1 9881 genome.wustl.edu 37 3 36873485 36873485 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014831.2 -1 provisional p.A1936V 0.998 754 0% 365 26% 3 33.3% benign(0) tolerated(1) - NULL EPM2AIP1 9852 genome.wustl.edu 37 3 37033966 37033966 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014805.3 -1 reviewed p.E201D 0.000 192 0% 92 22.8% 2 0% benign(0) tolerated(0.61) neutral(0.004) NULL EPM2AIP1 9852 genome.wustl.edu 37 3 37034308 37034308 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014805.3 -1 reviewed p.P87 0.000 62 0% 24 41.7% 1 0% - - - NULL LRRFIP2 9209 genome.wustl.edu 37 3 37095398 37095398 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006309.2 -1 validated p.A704T 1.000 269 0% 180 23.9% 34 35.2% benign(0.017) tolerated(0.56) neutral(0.007) NULL LRRFIP2 9209 genome.wustl.edu 37 3 37154434 37154434 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006309.2 -1 validated p.R137M 0.848 271 0% 175 28.6% 0 - benign(0.066) tolerated(0.09) neutral(0.301) HMMPfam_DUF2051 GOLGA4 2803 genome.wustl.edu 37 3 37370023 37370023 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002078.4 +1 reviewed p.T2019N 1.000 246 0% 193 14.5% 34 23.5% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL ITGA9 3680 genome.wustl.edu 37 3 37512618 37512618 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002207.2 +1 reviewed p.M102I 1.000 235 0% 123 27.6% 0 - benign(0.009) tolerated(0.09) neutral(0.297) HMMSmart_Int_alpha,superfamily_SSF69318 ITGA9 3680 genome.wustl.edu 37 3 37512625 37512625 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002207.2 +1 reviewed p.G105W 1.000 229 0% 111 25.2% 0 - probably_damaging(0.963) deleterious(0) deleterious(0.850) superfamily_SSF69318 ITGA9 3680 genome.wustl.edu 37 3 37791971 37791971 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002207.2 +1 reviewed p.S818G 0.988 156 0% 65 38.5% 2 0% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Integrin_alpha2,superfamily_SSF69179 CTDSPL 10217 genome.wustl.edu 37 3 37988620 37988620 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001008392.1 +1 validated p.R51H 1.000 107 0% 62 27.4% 17 35.2% benign(0.083) tolerated(0.5) neutral(0.016) NULL PLCD1 5333 genome.wustl.edu 37 3 38050789 38050789 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130964.1 -1 validated p.R548H 1.000 156 0.6% 45 24.4% 4 25% possibly_damaging(0.884) deleterious(0.01) deleterious(0.750) HMMPfam_PI-PLC-Y,HMMSmart_PLCYc,superfamily_PLC-like_Pdiesterase_TIM-brl DLEC1 9940 genome.wustl.edu 37 3 38158562 38158562 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007337.2 +1 reviewed p.A1426T 1.000 259 0% 132 29.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL EXOG 9941 genome.wustl.edu 37 3 38548430 38548430 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005107.3 +1 reviewed p.G206C 0.002 156 0% 90 23.3% 8 25% benign(0.3) tolerated(0.05) neutral(0.439) HMMPfam_Endonuclease_NS,HMMSmart_SM00477,superfamily_His-Me finger endonucleases SCN10A 6336 genome.wustl.edu 37 3 38739051 38739051 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006514.2 -1 validated p.A1887V 0.000 382 0% 213 10.3% 0 - benign(0) tolerated(0.29) neutral(0.029) NULL WDR48 57599 genome.wustl.edu 37 3 39135514 39135514 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020839.2 +1 provisional p.A632V 1.000 286 0% 145 35.2% 27 59.2% benign(0) tolerated(0.1) neutral(0.286) NULL CSRNP1 64651 genome.wustl.edu 37 3 39186566 39186566 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033027.3 -1 reviewed p.A129 0.000 74 0% 36 36.1% 4 25% - - - NULL XIRP1 165904 genome.wustl.edu 37 3 39229229 39229229 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_194293.2 -1 provisional p.R570* 0.065 158 0% 72 22.2% 0 - - - - NULL LOC729454 729454 genome.wustl.edu 37 3 39255943 39255943 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_001130287.2 +1 model p.A180V 1.000 260 0% 144 27.8% 0 - - - - HMMPfam_Cofilin_ADF,HMMSmart_SM00102,superfamily_Actin depolymerizing proteins CX3CR1 1524 genome.wustl.edu 37 3 39307393 39307393 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001337.3 -1 reviewed p.P203L 0.991 353 0% 179 13.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MYRIP 25924 genome.wustl.edu 37 3 40085745 40085745 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000396217 +1 known p.A62V 0.296 179 0% 101 24.8% 12 50% possibly_damaging(0.936) deleterious(0.01) deleterious(0.787) NULL ENTPD3 956 genome.wustl.edu 37 3 40442474 40442474 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001248.2 +1 validated p.V86 0.955 305 0% 167 25.7% 31 61.2% - - - HMMPfam_GDA1_CD39 ZNF619 285267 genome.wustl.edu 37 3 40528369 40528369 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001145082.2 +1 validated p.R163I 0.002 440 0% 220 23.6% 3 66.6% possibly_damaging(0.679) deleterious(0) deleterious(0.686) NULL ZNF620 253639 genome.wustl.edu 37 3 40558357 40558357 + RNA SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NR_024114.1 +1 validated NULL 0.000 282 0% 165 24.8% 2 50% - - - - ZNF621 285268 genome.wustl.edu 37 3 40574032 40574032 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098414.1 +1 validated p.H257 1.000 297 0% 160 10.6% 10 80% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers TRAK1 22906 genome.wustl.edu 37 3 42264774 42264774 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001042646.1 +1 validated p.S803G 1.000 71 0% 33 27.3% 15 33.3% benign(0.253) tolerated(0.42) neutral(0.040) NULL TRAK1 22906 genome.wustl.edu 37 3 42265029 42265029 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001042646.1 +1 validated p.G888C 1.000 47 0% 26 23.1% 18 38.8% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL LOC100287203 100287203 genome.wustl.edu 37 3 42730159 42730159 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002342329.1 -1 model p.H146Y 1.000 56 0% 29 27.6% 0 - - - - NULL CCBP2 1238 genome.wustl.edu 37 3 42906455 42906455 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001296.4 +1 reviewed p.R154M 0.000 592 0% 337 33.2% 3 0% possibly_damaging(0.673) deleterious(0) deleterious(0.683) HMMPfam_7tm_1,superfamily_SSF81321 CYP8B1 1582 genome.wustl.edu 37 3 42916213 42916213 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004391.2 -1 reviewed p.L366M 0.011 234 0% 112 20.5% 0 - probably_damaging(0.982) tolerated(0.07) deleterious(0.746) HMMPfam_p450,superfamily_Cytochrome P450 ZNF662 389114 genome.wustl.edu 37 3 42956562 42956562 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001134656.1 +1 validated p.E359K 0.979 190 0% 107 16.8% 2 0% possibly_damaging(0.945) tolerated(0.07) deleterious(0.709) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SNRK 54861 genome.wustl.edu 37 3 43389942 43389942 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001100594.1 +1 validated p.L731M 1.000 213 0% 119 28.6% 11 9% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ABHD5 51099 genome.wustl.edu 37 3 43753250 43753250 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016006.4 +1 reviewed p.D186Y 1.000 231 0% 147 23.8% 72 56.9% probably_damaging(0.992) tolerated(0.07) deleterious(0.766) HMMPfam_Abhydrolase_1,superfamily_SSF53474 C3orf23 285343 genome.wustl.edu 37 3 44402996 44402996 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173826.3 +1 validated p.P102H 0.005 254 0% 128 32% 17 58.8% benign(0.001) tolerated(0.23) neutral(0.042) NULL ZNF660 285349 genome.wustl.edu 37 3 44636229 44636229 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173658.1 +1 provisional p.R182* 0.990 262 0% 135 30.4% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF35 7584 genome.wustl.edu 37 3 44694070 44694070 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003420.3 +1 validated p.M72V 1.000 810 0.1% 479 29% 1 0% benign(0.029) deleterious(0) neutral(0.446) NULL KIF15 56992 genome.wustl.edu 37 3 44869001 44869001 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020242.2 +1 validated p.T946M 1.000 106 0% 54 24.1% 15 60% benign(0) tolerated(0.51) neutral(0.009) NULL KIF15 56992 genome.wustl.edu 37 3 44879889 44879889 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000429516 +1 known p.P1097S 0.972 119 0% 64 26.6% 7 57.1% benign(0) tolerated(0.48) neutral(0.011) NULL KIF15 56992 genome.wustl.edu 37 3 44884644 44884644 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020242.2 +1 validated p.R1205C 0.991 117 0% 93 28% 6 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TGM4 7047 genome.wustl.edu 37 3 44952500 44952500 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003241.3 +1 validated p.A553T 0.000 217 0% 112 31.2% 0 - benign(0.007) tolerated(0.26) neutral(0.034) superfamily_Transglut_C ZDHHC3 51304 genome.wustl.edu 37 3 44974424 44974424 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016598.2 -1 validated p.M223I 0.001 294 0% 162 18.5% 5 80% benign(0.001) tolerated(0.4) neutral(0.016) NULL LARS2 23395 genome.wustl.edu 37 3 45541932 45541932 + Splice_Site SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015340.3 +1 reviewed e13-2 0.999 258 0% 170 30% 0 - - - - - LIMD1 8994 genome.wustl.edu 37 3 45677737 45677737 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014240.2 +1 validated p.A502T 1.000 580 0% 300 25% 13 30.7% benign(0.025) tolerated(0.25) neutral(0.038) HMMPfam_LIM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,superfamily_SSF57716 CCR2 729230 genome.wustl.edu 37 3 46399126 46399126 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001123041.2 +1 validated p.D36 0.000 471 0% 333 13.2% 1 0% - - - superfamily_Family A G protein-coupled receptor-like CCR2 729230 genome.wustl.edu 37 3 46399961 46399961 + Splice_Site SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001123041.2 +1 validated e1+2 0.020 373 0% 206 23.8% 0 - - - - - CCR5 1234 genome.wustl.edu 37 3 46414598 46414598 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000579.3 +1 reviewed p.L69M 1.000 495 0.2% 357 21% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like LTF 4057 genome.wustl.edu 37 3 46484955 46484955 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002343.2 -1 reviewed p.Y544* 0.976 616 0.2% 312 30.8% 320 0% - - - HMMPfam_Transferrin,HMMSmart_TR_FER,superfamily_SSF53850 LTF 4057 genome.wustl.edu 37 3 46497462 46497462 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002343.2 -1 reviewed p.R108Q 0.007 82 0% 59 42.4% 125 0% benign(0.007) tolerated(1) - HMMPfam_Transferrin,HMMSmart_TR_FER,superfamily_SSF53850 LRRC2 79442 genome.wustl.edu 37 3 46560532 46560532 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024512.3 -1 validated p.T363I 1.000 536 0% 341 26.1% 4 50% benign(0.261) deleterious(0.01) neutral(0.433) NULL NBEAL2 23218 genome.wustl.edu 37 3 47036998 47036998 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015175.1 +1 validated p.M591I 1.000 24 0% 15 40% 11 36.3% probably_damaging(0.99) tolerated(0.31) deleterious(0.469) NULL NBEAL2 23218 genome.wustl.edu 37 3 47041651 47041651 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015175.1 +1 validated p.T1354 0.000 70 0% 17 41.2% 19 31.5% - - - NULL NBEAL2 23218 genome.wustl.edu 37 3 47041748 47041748 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015175.1 +1 validated p.G1387C 0.949 27 0% 12 41.7% 26 50% probably_damaging(0.999) tolerated(0.05) deleterious(0.836) NULL NBEAL2 23218 genome.wustl.edu 37 3 47049305 47049305 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015175.1 +1 validated e49-1 1.000 22 0.000 7 0.571 3 66.6% - - - - SETD2 29072 genome.wustl.edu 37 3 47162659 47162659 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014159.6 -1 reviewed p.R1156H 0.165 551 0% 401 29.4% 14 50% benign(0) tolerated(1) - NULL SETD2 29072 genome.wustl.edu 37 3 47163446 47163446 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014159.6 -1 reviewed p.S894G 0.678 304 0.3% 187 34.2% 17 47% benign(0.009) deleterious(0) neutral(0.445) NULL KIF9 64147 genome.wustl.edu 37 3 47308696 47308696 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001134878.1 -1 validated p.H217Y 1.000 496 0.2% 296 24.7% 1 0% benign(0) tolerated(0.63) neutral(0.004) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases KLHL18 23276 genome.wustl.edu 37 3 47384290 47384290 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025010.4 +1 validated p.G436 0.966 256 0% 135 27.4% 12 33.3% - - - HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain SCAP 22937 genome.wustl.edu 37 3 47465449 47465449 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012235.2 -1 reviewed p.L375R 0.997 36 0% 17 23.5% 57 22.8% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) superfamily_Multidrug efflux transporter AcrB transmembrane domain SCAP 22937 genome.wustl.edu 37 3 47484449 47484449 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012235.2 -1 reviewed p.S12Y 1.000 213 0% 136 25.7% 24 58.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SMARCC1 6599 genome.wustl.edu 37 3 47663796 47663796 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003074.3 -1 validated p.S894 0.984 463 0% 324 25.6% 100 37% - - - NULL DHX30 22907 genome.wustl.edu 37 3 47891046 47891046 + Splice_Site SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138615.2 +1 reviewed e18+2 0.996 83 0% 49 16.3% 16 100% - - - - CDC25A 993 genome.wustl.edu 37 3 48215850 48215850 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001789.2 -1 reviewed p.P285H 0.000 211 0% 122 32% 8 62.5% possibly_damaging(0.952) deleterious(0) deleterious(0.840) HMMPfam_M-inducer_phosp FBXW12 285231 genome.wustl.edu 37 3 48422270 48422270 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207102.2 +1 validated p.A285T 0.000 377 0% 209 17.2% 0 - benign(0) tolerated(0.53) neutral(0.007) superfamily_WD40_like PLXNB1 5364 genome.wustl.edu 37 3 48451074 48451074 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130082.1 -1 validated p.P1948 0.078 59 0% 20 40% 24 45.8% - - - superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl CCDC51 79714 genome.wustl.edu 37 3 48474284 48474284 + Missense_Mutation SNP C C T rs185891886 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024661.3 -1 validated p.R257H 0.164 182 0% 97 36.1% 25 28% benign(0) tolerated(0.12) neutral(0.261) NULL ATRIP 84126 genome.wustl.edu 37 3 48501592 48501592 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_130384.1 +1 reviewed p.N380I 0.007 84 1.2% 33 24.2% 17 41.1% possibly_damaging(0.613) tolerated(0.06) deleterious(0.535) NULL COL7A1 1294 genome.wustl.edu 37 3 48607324 48607324 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000094.3 -1 reviewed p.R2504C 0.997 57 0% 38 21.1% 1 0% unknown(0) deleterious(0.03) - HMMPfam_Collagen COL7A1 1294 genome.wustl.edu 37 3 48607591 48607591 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000094.3 -1 reviewed p.G2487 0.991 43 0% 37 37.8% 1 100% - - - HMMPfam_Collagen COL7A1 1294 genome.wustl.edu 37 3 48610469 48610469 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000094.3 -1 reviewed p.G2245 1.000 211 0% 93 19.4% 2 0% - - - HMMPfam_Collagen CELSR3 1951 genome.wustl.edu 37 3 48699614 48699614 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001407.2 -1 reviewed p.S152G 0.000 192 0% 104 28.8% 0 - benign(0.04) deleterious(0) neutral(0.447) NULL PRKAR2A 5576 genome.wustl.edu 37 3 48810497 48810497 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004157.2 -1 reviewed p.S196Y 0.992 436 0% 273 26.7% 19 26.3% benign(0.001) tolerated(1) - HMMPfam_cNMP_binding,HMMSmart_cNMP,superfamily_cNMP_binding C3orf71 646450 genome.wustl.edu 37 3 48955765 48955765 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001123040.1 -1 predicted p.S273N 0.000 72 0% 30 16.7% 2 0% unknown(0) - - NULL CCDC71 64925 genome.wustl.edu 37 3 49201265 49201265 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022903.3 -1 validated p.A126V 1.000 38 0% 28 25% 28 32.1% unknown(0) deleterious(0.01) - NULL USP4 7375 genome.wustl.edu 37 3 49337971 49337971 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000431357 -1 known p.T219I 0.997 173 0% 85 17.6% 27 29.6% - - - HMMPfam_UCH,superfamily_Cysteine proteinases RHOA 387 genome.wustl.edu 37 3 49412953 49412953 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001664.2 -1 validated p.V24F 1.000 320 0% 194 27.3% 588 40.8% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases TCTA 6988 genome.wustl.edu 37 3 49449989 49449989 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022171.2 +1 validated p.L44M 1.000 59 0% 22 18.2% 18 22.2% possibly_damaging(0.896) tolerated(0.21) neutral(0.397) NULL BSN 8927 genome.wustl.edu 37 3 49688326 49688326 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003458.3 +1 reviewed p.K600N 0.126 163 0% 62 30.6% 0 - possibly_damaging(0.812) - - NULL BSN 8927 genome.wustl.edu 37 3 49689743 49689743 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003458.3 +1 reviewed p.T918 0.000 43 0% 19 21.1% 0 - - - - NULL BSN 8927 genome.wustl.edu 37 3 49690888 49690889 + Frame_Shift_Ins INS - - A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003458.3 +1 reviewed p.M1301fs 0.999:0.684 - - - - - - - - - NULL BSN 8927 genome.wustl.edu 37 3 49694436 49694436 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003458.3 +1 reviewed p.A2483T 0.902 23 0.000 8 0.500 0 - unknown(0) - - NULL IP6K1 9807 genome.wustl.edu 37 3 49764800 49764800 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153273.3 -1 reviewed p.L361M 0.140 52 0% 27 37% 25 24% benign(0) tolerated(0.11) neutral(0.272) HMMPfam_IPK,superfamily_SAICAR synthase-like UBA7 7318 genome.wustl.edu 37 3 49846847 49846847 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003335.2 -1 reviewed p.Q713 0.984 123 0% 62 29% 7 0% - - - superfamily_MoeB UBA7 7318 genome.wustl.edu 37 3 49850711 49850711 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003335.2 -1 reviewed p.I111V 0.996 71 0% 44 11.4% 3 0% benign(0.228) tolerated(0.07) neutral(0.342) HMMPfam_ThiF,superfamily_MoeB CAMKV 79012 genome.wustl.edu 37 3 49898420 49898420 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000480398 -1 known p.T109A 0.997 82 0% 34 17.6% 0 - benign(0.001) tolerated(0.09) neutral(0.296) NULL RBM6 10180 genome.wustl.edu 37 3 50097147 50097147 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005777.2 +1 validated p.M732I 1.000 162 0% 83 31.3% 37 45.9% benign(0.261) deleterious(0.03) neutral(0.392) superfamily_SSF54928 RBM6 10180 genome.wustl.edu 37 3 50114523 50114523 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000436550 +1 known p.C192* 1.000 109 0% 60 43.3% 18 55.5% probably_damaging(1) tolerated(0.18) deleterious(0.556) NULL SEMA3B 7869 genome.wustl.edu 37 3 50308389 50308389 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004636.2 +1 reviewed p.R133Q 0.823 16 0% 12 33.3% 4 50% unknown(0) - - NULL IFRD2 7866 genome.wustl.edu 37 3 50326062 50326062 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006764.4 -1 validated p.Y432 0.000 87 0% 35 20% 93 54.8% - - - NULL RASSF1 11186 genome.wustl.edu 37 3 50369083 50369083 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_170714.1 -1 reviewed p.R227C 0.062 92 0% 30 40% 36 38.8% probably_damaging(0.983) - - HMMPfam_RA,HMMSmart_SM00314 NPRL2 10641 genome.wustl.edu 37 3 50385825 50385825 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006545.4 -1 validated p.C246Y 1.000 46 0% 15 33.3% 31 35.4% possibly_damaging(0.482) tolerated(0.11) neutral(0.431) HMMPfam_NPR2 HEMK1 51409 genome.wustl.edu 37 3 50617573 50617573 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016173.3 +1 validated p.R298M 0.447 76 0% 39 28.2% 23 43.4% probably_damaging(0.991) deleterious(0.04) deleterious(0.793) superfamily_SSF53335 CISH 1154 genome.wustl.edu 37 3 50645823 50645823 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013324.5 -1 reviewed p.F91L 1.000 28 0% 18 22.2% 36 36.1% benign(0.078) deleterious(0.02) neutral(0.389) superfamily_SH2 domain DOCK3 1795 genome.wustl.edu 37 3 51264817 51264817 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004947.3 +1 validated p.P494L 1.000 418 0% 272 26.5% 0 - benign(0.194) tolerated(0.59) neutral(0.022) NULL DOCK3 1795 genome.wustl.edu 37 3 51264836 51264836 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004947.3 +1 validated p.F500 1.000 383 0% 253 33.6% 0 - - - - NULL DOCK3 1795 genome.wustl.edu 37 3 51297588 51297588 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004947.3 +1 validated p.A729V 1.000 70 0% 67 32.8% 0 - probably_damaging(0.994) deleterious(0.02) deleterious(0.835) NULL VPRBP 9730 genome.wustl.edu 37 3 51457674 51457674 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014703.2 -1 validated p.A864V 0.921 199 0% 98 31.6% 18 16.6% benign(0.071) tolerated(0.33) neutral(0.029) NULL VPRBP 9730 genome.wustl.edu 37 3 51459778 51459778 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014703.2 -1 validated p.G598E 1.000 85 0% 47 21.3% 10 20% possibly_damaging(0.903) tolerated(0.15) deleterious(0.599) superfamily_ARM repeat RAD54L2 23132 genome.wustl.edu 37 3 51691620 51691620 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015106.2 +1 validated p.S1084N 1.000 36 0% 21 23.8% 9 22.2% benign(0.052) deleterious(0.04) neutral(0.352) NULL PARP3 10039 genome.wustl.edu 37 3 51982484 51982484 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001003931.2 +1 reviewed p.E537D 0.981 144 0% 77 24.7% 8 0% probably_damaging(0.953) tolerated(0.06) deleterious(0.719) HMMPfam_PARP,superfamily_SSF56399 LOC100287670 100287670 genome.wustl.edu 37 3 52003384 52003384 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002342337.1 +1 model p.R13C 0.000 64 0% 29 34.5% 59 37.2% - - - NULL ALAS1 211 genome.wustl.edu 37 3 52245450 52245450 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000493402 +1 known p.A91V 0.005 189 0% 95 33.7% 121 45.4% - - - HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases ALAS1 211 genome.wustl.edu 37 3 52246344 52246344 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000493402 +1 known p.Q154* 1.000 1282 0.1% 630 27.1% 169 44.9% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases TWF2 11344 genome.wustl.edu 37 3 52265981 52265981 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007284.3 -1 reviewed p.A87 1.000 51 0% 33 33.3% 95 35.7% - - - HMMPfam_Cofilin_ADF,HMMSmart_ADF,superfamily_SSF55753 DNAH1 25981 genome.wustl.edu 37 3 52398930 52398930 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015512.4 +1 validated p.V1805M 0.708 82 0% 26 26.9% 3 33.3% benign(0.103) tolerated(0.07) neutral(0.327) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH1 25981 genome.wustl.edu 37 3 52402763 52402763 + Silent SNP C C T rs187752630 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015512.4 +1 validated p.D1924 0.993 101 0% 44 43.2% 0 - - - - HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases BAP1 8314 genome.wustl.edu 37 3 52439173 52439173 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004656.2 -1 reviewed p.L357M 1.000 86 0% 32 40.6% 47 36.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SEMA3G 56920 genome.wustl.edu 37 3 52472968 52472968 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020163.1 -1 provisional p.P493S 0.986 99 0% 45 24.4% 5 20% probably_damaging(0.982) tolerated(0.11) deleterious(0.698) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema NISCH 11188 genome.wustl.edu 37 3 52522349 52522349 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007184.3 +1 validated p.P947 0.255 47 0% 22 18.2% 73 42.4% - - - NULL ITIH1 3697 genome.wustl.edu 37 3 52819170 52819170 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002215.2 +1 reviewed p.G506 1.000 166 0.6% 111 27% 0 - - - - NULL ITIH3 3699 genome.wustl.edu 37 3 52830583 52830583 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002217.3 +1 validated p.A67 0.015 51 0% 18 33.3% 0 - - - - HMMSmart_SM00609,HMMPfam_VIT ITIH3 3699 genome.wustl.edu 37 3 52835099 52835099 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002217.3 +1 validated p.A440 0.996 190 0% 93 12.9% 0 - - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like ITIH3 3699 genome.wustl.edu 37 3 52836380 52836380 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002217.3 +1 validated p.L472M 1.000 55 0% 34 26.5% 0 - probably_damaging(0.995) deleterious(0.02) deleterious(0.841) superfamily_vWA-like ITIH3 3699 genome.wustl.edu 37 3 52836749 52836749 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002217.3 +1 validated p.R546W 0.317 85 0% 31 32.3% 0 - possibly_damaging(0.835) deleterious(0.04) deleterious(0.667) NULL ITIH4 3700 genome.wustl.edu 37 3 52858579 52858579 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000441637 -1 known p.P151T 0.014 58 0% 20 25% 1 0% - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like SFMBT1 51460 genome.wustl.edu 37 3 52941615 52941615 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005158.1 -1 reviewed p.R681C 1.000 262 0% 153 34% 6 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SFMBT1 51460 genome.wustl.edu 37 3 52945098 52945098 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005158.1 -1 reviewed p.C609 1.000 160 0% 99 29.3% 5 80% - - - NULL RFT1 91869 genome.wustl.edu 37 3 53126518 53126518 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052859.3 -1 reviewed p.R442Q 1.000 53 0% 29 34.5% 42 38% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Rft-1 TKT 7086 genome.wustl.edu 37 3 53263130 53263130 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001064.2 -1 validated p.A430T 1.000 106 0% 54 35.2% 353 45.8% probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMPfam_Transket_pyr,PatternScan_TRANSKETOLASE_2,superfamily_Thiamin diphosphate-binding fold (THDP-binding) DCP1A 55802 genome.wustl.edu 37 3 53322206 53322206 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000461753 -1 known p.G514R 0.015 89 0% 29 13.8% 10 10% - - - NULL CACNA1D 776 genome.wustl.edu 37 3 53757498 53757498 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000720.2 +1 validated p.C588 0.551 229 0% 103 26.2% 1 0% - - - HMMPfam_Ion_trans,superfamily_SSF81324 CACNA1D 776 genome.wustl.edu 37 3 53835235 53835235 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000720.2 +1 validated p.P1751S 1.000 371 0% 192 25% 1 100% benign(0.03) tolerated(0.52) neutral(0.010) NULL CACNA1D 776 genome.wustl.edu 37 3 53836179 53836179 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000720.2 +1 validated p.R1825H 1.000 445 0% 249 28.5% 0 - probably_damaging(1) tolerated(0.12) deleterious(0.760) NULL CACNA2D3 55799 genome.wustl.edu 37 3 54925478 54925478 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018398.2 +1 reviewed e25+1 1.000 137 0.7% 82 26.8% 0 - - - - - LRTM1 57408 genome.wustl.edu 37 3 54959126 54959126 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020678.2 -1 provisional p.A42T 0.971 148 0% 85 28.2% 0 - benign(0.001) tolerated(0.56) neutral(0.006) superfamily_L domain-like CACNA2D3 55799 genome.wustl.edu 37 3 55003826 55003826 + Splice_Site SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018398.2 +1 reviewed e29-1 1.000 68 0% 37 21.6% 0 - - - - - ERC2 26059 genome.wustl.edu 37 3 56183149 56183149 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000492584 -1 known p.S26L 0.902 109 0% 114 32.5% 0 - - - - HMMPfam_Cast ERC2 26059 genome.wustl.edu 37 3 56468774 56468774 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015576.1 -1 validated p.R88* 1.000 833 0.1% 418 27.8% 0 - - - - NULL CCDC66 285331 genome.wustl.edu 37 3 56600665 56600665 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001141947.1 +1 validated p.K196N 0.990 177 0% 83 25.3% 3 0% possibly_damaging(0.586) tolerated(0.1) deleterious(0.488) NULL FAM208A 23272 genome.wustl.edu 37 3 56674137 56674137 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001112736.1 -1 validated p.N881D 0.997 156 0% 96 28.1% 18 44.4% possibly_damaging(0.942) tolerated(0.18) neutral(0.443) NULL IL17RD 54756 genome.wustl.edu 37 3 57130477 57130477 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017563.3 -1 validated p.A722S 1.000 168 0% 67 14.9% 16 50% possibly_damaging(0.454) deleterious(0.04) deleterious(0.497) NULL IL17RD 54756 genome.wustl.edu 37 3 57132013 57132013 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017563.3 -1 validated p.R573H 0.017 66 0% 32 18.8% 4 50% benign(0.002) tolerated(0.43) neutral(0.013) NULL IL17RD 54756 genome.wustl.edu 37 3 57132517 57132517 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017563.3 -1 validated p.R405I 0.980 353 0% 221 17.6% 5 20% possibly_damaging(0.816) tolerated(0.54) neutral(0.316) HMMPfam_SEFIR HESX1 8820 genome.wustl.edu 37 3 57232813 57232813 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003865.2 -1 reviewed p.R109* 1.000 886 0.1% 565 29% 0 - - - - HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like FLNB 2317 genome.wustl.edu 37 3 57994544 57994544 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001457.3 +1 reviewed p.E85K 1.000 100 0% 44 25% 9 77.7% possibly_damaging(0.654) tolerated(0.28) neutral(0.262) HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology FLNB 2317 genome.wustl.edu 37 3 58067394 58067394 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001457.3 +1 reviewed p.D226 0.985 299 0% 168 26.2% 11 18.1% - - - HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology FLNB 2317 genome.wustl.edu 37 3 58083668 58083668 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001457.3 +1 reviewed p.A371T 1.000 189 0% 127 28.3% 15 73.3% possibly_damaging(0.875) deleterious(0.01) deleterious(0.746) HMMSmart_IG_FLMN,superfamily_Ig_E-set,HMMPfam_Filamin FLNB 2317 genome.wustl.edu 37 3 58090887 58090887 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001457.3 +1 reviewed p.V564A 0.972 151 0.7% 88 34.1% 7 14.2% benign(0.413) tolerated(0.06) neutral(0.456) HMMSmart_IG_FLMN,superfamily_Ig_E-set,HMMPfam_Filamin C3orf67 200844 genome.wustl.edu 37 3 58923425 58923425 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000468415 -1 known p.S114 0.995 234 0.4% 162 26.5% 4 25% - - - HMMPfam_DUF667 CADPS 8618 genome.wustl.edu 37 3 62467428 62467428 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003716.3 -1 reviewed p.P1048L 1.000 259 0% 143 24.5% 0 - benign(0.15) deleterious(0.02) neutral(0.396) NULL CADPS 8618 genome.wustl.edu 37 3 62522232 62522232 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003716.3 -1 reviewed p.G664V 1.000 694 0% 534 24.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CADPS 8618 genome.wustl.edu 37 3 62543175 62543175 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003716.3 -1 reviewed p.T553M 1.000 300 0.3% 204 29.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like CADPS 8618 genome.wustl.edu 37 3 62739250 62739250 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003716.3 -1 reviewed p.R252W 0.994 148 0% 76 22.4% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL CADPS 8618 genome.wustl.edu 37 3 62751616 62751616 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003716.3 -1 reviewed p.A162V 1.000 386 0% 194 24.7% 0 - possibly_damaging(0.614) deleterious(0.03) deleterious(0.578) NULL ATXN7 6314 genome.wustl.edu 37 3 63973901 63973901 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001128149.2 +1 reviewed p.T421M 0.472 613 0% 286 31.8% 10 30% possibly_damaging(0.884) deleterious(0.03) deleterious(0.710) NULL ATXN7 6314 genome.wustl.edu 37 3 63981399 63981399 + Missense_Mutation SNP C C T rs138640161 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001128149.2 +1 reviewed p.A634V 0.992 513 0% 277 28.5% 14 35.7% probably_damaging(0.998) tolerated(0.1) deleterious(0.761) NULL ATXN7 6314 genome.wustl.edu 37 3 63981798 63981798 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001128149.2 +1 reviewed p.A767V 0.996 193 0% 100 23% 12 58.3% benign(0.011) tolerated(0.06) neutral(0.323) NULL PRICKLE2 166336 genome.wustl.edu 37 3 64085170 64085170 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198859.3 -1 validated p.A698T 1.000 92 0% 36 38.9% 2 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL PRICKLE2 166336 genome.wustl.edu 37 3 64138934 64138934 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198859.3 -1 validated p.K237N 1.000 290 0% 212 18.4% 1 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_LIM,HMMSmart_LIM,superfamily_SSF57716 ADAMTS9 56999 genome.wustl.edu 37 3 64587824 64587824 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000481060 -1 known p.T327M 0.876 236 0% 113 28.3% 2 100% - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat ADAMTS9 56999 genome.wustl.edu 37 3 64592641 64592641 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182920.1 -1 reviewed p.T1157A 0.999 294 0% 205 32.7% 3 0% possibly_damaging(0.433) tolerated(0.3) neutral(0.169) HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat MAGI1 9223 genome.wustl.edu 37 3 65367589 65367589 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000460329 -1 known p.T795M 0.969 151 0% 73 26% 9 66.6% - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like MAGI1 9223 genome.wustl.edu 37 3 65367700 65367700 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000460329 -1 known p.T758M 0.814 212 0% 124 21% 19 26.3% - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like MAGI1 9223 genome.wustl.edu 37 3 65456088 65456088 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001033057.1 -1 reviewed p.A277T 0.004 258 0% 159 29.6% 10 40% benign(0) tolerated(0.35) neutral(0.021) HMMSmart_SM00072 MAGI1 9223 genome.wustl.edu 37 3 65464296 65464296 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001033057.1 -1 reviewed p.D243A 1.000 333 0% 201 15.9% 14 7.1% benign(0.407) tolerated(0.25) neutral(0.169) HMMSmart_SM00072 LRIG1 26018 genome.wustl.edu 37 3 66444554 66444554 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015541.2 -1 validated p.L460M 0.865 49 0% 30 16.7% 126 49.2% probably_damaging(0.953) tolerated(0.22) neutral(0.439) HMMSmart_SM00082,superfamily_L domain-like SUCLG2 8801 genome.wustl.edu 37 3 67578566 67578566 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003848.3 -1 reviewed p.K136R 1.000 123 0% 75 17.3% 29 20.6% benign(0.014) tolerated(0.77) neutral(0.002) HMMPfam_ATP-grasp_2,superfamily_SSF56059 C3orf64 285203 genome.wustl.edu 37 3 69027549 69027549 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173654.1 -1 provisional p.A374T 1.000 314 0% 191 29.8% 16 25% probably_damaging(0.999) tolerated(0.12) deleterious(0.751) NULL C3orf64 285203 genome.wustl.edu 37 3 69058988 69058988 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173654.1 -1 provisional p.L4 0.989 106 0% 52 32.7% 2 0% - - - NULL LMOD3 56203 genome.wustl.edu 37 3 69168123 69168123 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198271.3 -1 validated p.P461 0.241 145 0% 99 28.3% 1 0% - - - NULL FOXP1 27086 genome.wustl.edu 37 3 71027069 71027069 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032682.4 -1 reviewed p.G420C 1.000 112 0% 53 13.2% 16 25% probably_damaging(0.958) deleterious(0.02) deleterious(0.784) NULL EBLN2 55096 genome.wustl.edu 37 3 73111728 73111728 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018029.3 +1 provisional p.S166G 0.001 241 0% 140 27.1% 1 0% possibly_damaging(0.888) tolerated(0.17) neutral(0.406) HMMPfam_BDV_P40,superfamily_P40_nucleoprot_BD-vir PDZRN3 23024 genome.wustl.edu 37 3 73433546 73433546 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015009.1 -1 provisional p.S724N 1.000 27 0% 17 41.2% 17 35.2% benign(0.218) tolerated(0.29) neutral(0.051) NULL CNTN3 5067 genome.wustl.edu 37 3 74414825 74414825 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020872.1 -1 validated p.K325N 0.000 567 0% 355 30.1% 0 - benign(0) tolerated(1) - HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin CNTN3 5067 genome.wustl.edu 37 3 74535705 74535705 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020872.1 -1 validated p.I87S 0.001 515 0% 365 28.8% 1 0% benign(0.001) tolerated(1) - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin ROBO2 6092 genome.wustl.edu 37 3 77637907 77637907 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002942.3 +1 reviewed p.R836C 1.000 93 0% 74 35.1% 4 0% probably_damaging(0.968) tolerated(0.09) deleterious(0.706) superfamily_Fibronectin type III ROBO1 6091 genome.wustl.edu 37 3 78680401 78680401 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002941.3 -1 reviewed p.G1179D 1.000 108 0% 72 34.7% 28 50% possibly_damaging(0.948) deleterious(0) deleterious(0.836) NULL ROBO1 6091 genome.wustl.edu 37 3 78987846 78987846 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002941.3 -1 reviewed p.G135V 1.000 169 0% 93 12.9% 7 0% probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin CADM2 253559 genome.wustl.edu 37 3 86114881 86114881 + Splice_Site SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153184.3 +1 validated e9+1 1.000 102 0% 67 28.4% 0 - - - - - ZNF654 55279 genome.wustl.edu 37 3 88189439 88189439 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018293.2 +1 validated p.P327S 1.000 286 0% 220 28.2% 12 25% benign(0.008) tolerated(0.17) neutral(0.059) NULL C3orf38 285237 genome.wustl.edu 37 3 88202394 88202394 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000318887 +1 known p.I50V 1.000 155 0% 82 28% 23 43.4% probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL EPHA3 2042 genome.wustl.edu 37 3 89259220 89259220 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005233.5 +1 reviewed p.L122M 1.000 485 0% 336 29.2% 0 - benign(0.009) tolerated(0.08) neutral(0.300) HMMPfam_Ephrin_lbd,HMMSmart_SM00615,superfamily_Galactose-binding domain-like EPHA3 2042 genome.wustl.edu 37 3 89259655 89259655 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005233.5 +1 reviewed p.G267C 1.000 714 0.1% 462 25.1% 2 50% possibly_damaging(0.823) deleterious(0.01) deleterious(0.717) PatternScan_EGF_2 PROS1 5627 genome.wustl.edu 37 3 93593098 93593098 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000313.3 -1 reviewed p.K674 0.000 189 0% 141 9.9% 1 0% - - - NULL PROS1 5627 genome.wustl.edu 37 3 93617408 93617408 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000313.3 -1 reviewed p.D245Y 1.000 162 0% 106 21.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_EGF_CA,PatternScan_EGF_CA PROS1 5627 genome.wustl.edu 37 3 93624961 93624961 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000313.3 -1 reviewed p.P125S 1.000 326 0% 169 12.4% 2 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_EGF,HMMSmart_EGF,superfamily_SSF57196 LOC391556 391556 genome.wustl.edu 37 3 96285232 96285232 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002342412.1 +1 model p.A11V 0.997 47 0% 44 27.3% 0 - - - - NULL EPHA6 285220 genome.wustl.edu 37 3 96706208 96706208 + Missense_Mutation SNP G G T rs192891419 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080448.2 +1 provisional p.R162M 0.989 488 0% 291 24.7% 6 66.6% possibly_damaging(0.702) tolerated(0.15) deleterious(0.493) HMMPfam_Ephrin_lbd,HMMSmart_SM00615,superfamily_Galactose-binding domain-like EPHA6 285220 genome.wustl.edu 37 3 97167542 97167542 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080448.2 +1 provisional p.S621I 1.000 261 0.4% 173 31.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_fn3,superfamily_Fibronectin type III ARL6 84100 genome.wustl.edu 37 3 97499519 97499519 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032146.3 +1 reviewed p.H82 1.000 213 0% 177 25.4% 8 12.5% - - - HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases CRYBG3 131544 genome.wustl.edu 37 3 97596331 97596331 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153605.2 +1 validated p.I150T 0.243 403 0% 306 27.8% 10 40% benign(0.029) deleterious(0) neutral(0.446) NULL CRYBG3 131544 genome.wustl.edu 37 3 97662118 97662118 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153605.2 +1 validated p.E1010V 1.000 151 0.7% 129 25.6% 18 11.1% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,superfamily_Ricin B-like lectins MINA 84864 genome.wustl.edu 37 3 97686377 97686377 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001042533.1 -1 validated p.Q21* 0.996 215 0% 116 29.3% 24 62.5% - - - superfamily_Clavaminate synthase-like GABRR3 200959 genome.wustl.edu 37 3 97711870 97711870 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000329044 -1 known p.M82I 1.000 334 0% 228 28.1% 0 - possibly_damaging(0.944) deleterious(0) deleterious(0.833) HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore OR5H14 403273 genome.wustl.edu 37 3 97868882 97868882 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005514.1 +1 provisional p.Y218C 0.103 200 0% 194 32% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like DCBLD2 131566 genome.wustl.edu 37 3 98600482 98600482 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080927.3 -1 validated p.R112H 1.000 1015 0.1% 659 26.4% 3 66.6% benign(0.016) tolerated(0.57) neutral(0.007) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain FILIP1L 11259 genome.wustl.edu 37 3 99568391 99568392 + In_Frame_Ins INS - - CTT novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182909.2 -1 validated p.710in_frame_insE 0.999:1.000 - - - - - - - - - superfamily_Prefoldin FILIP1L 11259 genome.wustl.edu 37 3 99568669 99568669 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182909.2 -1 validated p.A617 0.000 735 0% 537 25.5% 14 0% - - - NULL FILIP1L 11259 genome.wustl.edu 37 3 99568997 99568997 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182909.2 -1 validated p.S508I 1.000 271 0.4% 223 23.8% 6 0% benign(0.429) tolerated(0.18) neutral(0.196) HMMPfam_CortBP2 FILIP1L 11259 genome.wustl.edu 37 3 99569205 99569205 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182909.2 -1 validated p.Q439* 1.000 609 0% 463 29.6% 9 0% - - - superfamily_Prefoldin,HMMPfam_CortBP2 C3orf26 84319 genome.wustl.edu 37 3 99895255 99895255 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032359.3 +1 validated p.P251L 1.000 193 0% 94 24.5% 39 46.1% probably_damaging(0.989) deleterious(0.03) deleterious(0.804) NULL TBC1D23 55773 genome.wustl.edu 37 3 100002485 100002485 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018309.2 +1 validated p.E102 0.785 121 0% 82 32.9% 15 66.6% - - - HMMSmart_SM00164 TMEM45A 55076 genome.wustl.edu 37 3 100277385 100277385 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018004.1 +1 provisional p.E180D 1.000 498 0% 301 29.6% 19 36.8% probably_damaging(0.99) deleterious(0.04) deleterious(0.790) HMMPfam_DUF716 GPR128 84873 genome.wustl.edu 37 3 100387911 100387911 + Missense_Mutation SNP G G A rs116022671 byCluster;byFrequency;by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032787.2 +1 validated p.V700I 0.000 198 0% 105 19% 0 - benign(0) tolerated(0.68) neutral(0.002) HMMPfam_7tm_2 SENP7 57337 genome.wustl.edu 37 3 101066848 101066848 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020654.3 -1 validated p.R569W 1.000 942 0.2% 669 22.6% 4 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ZBTB11 27107 genome.wustl.edu 37 3 101390820 101390820 + Splice_Site SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014415.3 -1 validated e2+2 1.000 179 0% 102 28.4% 4 50% - - - - CEP97 79598 genome.wustl.edu 37 3 101484047 101484047 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024548.2 +1 provisional p.D750 0.095 473 0% 336 30.4% 1 0% - - - NULL NFKBIZ 64332 genome.wustl.edu 37 3 101574703 101574703 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031419.2 +1 reviewed p.T594I 1.000 204 0% 98 29.6% 14 35.7% probably_damaging(1) tolerated(0.16) deleterious(0.559) HMMPfam_Ank,superfamily_Ankyrin repeat NFKBIZ 64332 genome.wustl.edu 37 3 101575938 101575938 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031419.2 +1 reviewed p.A616T 1.000 450 0% 241 30.7% 17 23.5% probably_damaging(0.989) deleterious(0.03) deleterious(0.804) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat BBX 56987 genome.wustl.edu 37 3 107492433 107492433 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142568.1 +1 validated p.T622N 1.000 263 0% 179 31.8% 14 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL IFT57 55081 genome.wustl.edu 37 3 107910482 107910482 + Silent SNP G G A rs182941979 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018010.3 -1 validated p.N221 0.930 162 0.6% 150 32.7% 44 27.2% - - - HMMPfam_IFT57 MYH15 22989 genome.wustl.edu 37 3 108188907 108188907 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014981.1 -1 validated p.C532 1.000 344 0% 263 33.5% 0 - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases KIAA1524 57650 genome.wustl.edu 37 3 108308220 108308220 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020890.2 -1 validated p.M1I 1.000 25 0% 17 23.5% 3 100% possibly_damaging(0.643) deleterious(0.03) deleterious(0.590) NULL DZIP3 9666 genome.wustl.edu 37 3 108380779 108380779 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014648.3 +1 validated p.A752V 0.992 317 0% 241 14.1% 5 20% probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL TRAT1 50852 genome.wustl.edu 37 3 108568064 108568064 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016388.2 +1 validated p.S89Y 0.017 256 0% 178 28.1% 0 - possibly_damaging(0.861) tolerated(0.08) deleterious(0.633) NULL TRAT1 50852 genome.wustl.edu 37 3 108572525 108572525 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016388.2 +1 validated p.R121H 0.665 255 0% 166 33.7% 0 - benign(0.008) tolerated(0.39) neutral(0.016) NULL MORC1 27136 genome.wustl.edu 37 3 108725918 108725918 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014429.3 -1 reviewed p.D575 0.000 249 0% 154 28.6% 0 - - - - NULL MORC1 27136 genome.wustl.edu 37 3 108778652 108778652 + Splice_Site SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014429.3 -1 reviewed e12+1 1.000 242 0% 153 34.6% 0 - - - - - PHLDB2 90102 genome.wustl.edu 37 3 111604254 111604254 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001134438.1 +1 validated p.R444* 1.000 205 0.5% 132 21.2% 0 - - - - NULL PHLDB2 90102 genome.wustl.edu 37 3 111658393 111658393 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001134438.1 +1 validated p.S734 1.000 286 0% 193 31.1% 2 50% - - - NULL TAGLN3 29114 genome.wustl.edu 37 3 111719782 111719782 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001008272.1 +1 validated p.D115G 1.000 309 0% 177 27.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain TAGLN3 29114 genome.wustl.edu 37 3 111732301 111732301 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001008272.1 +1 validated p.R168H 1.000 58 0% 34 32.4% 0 - possibly_damaging(0.938) deleterious(0) deleterious(0.828) NULL GCET2 257144 genome.wustl.edu 37 3 111851960 111851960 + Frame_Shift_Del DEL T T - novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152785.3 -1 reviewed p.N3fs 0.815 - - - - - - - - - NULL SLC9A10 285335 genome.wustl.edu 37 3 111927031 111927031 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_183061.1 -1 validated p.L660 0.238 403 0% 276 32.2% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SLC9A10 285335 genome.wustl.edu 37 3 111997588 111997588 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_183061.1 -1 validated p.K102N 0.870 242 0% 159 25.2% 0 - probably_damaging(0.995) tolerated(0.14) deleterious(0.707) HMMPfam_Na_H_Exchanger ATG3 64422 genome.wustl.edu 37 3 112255446 112255446 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022488.3 -1 provisional p.R224W 1.000 217 0.9% 139 37.4% 93 52.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Autophagy_act_C CCDC80 151887 genome.wustl.edu 37 3 112324324 112324324 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_199511.1 -1 validated p.Q931H 1.000 185 0% 109 29.4% 21 0% unknown(0) deleterious(0) - NULL C3orf17 25871 genome.wustl.edu 37 3 112732855 112732855 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015412.3 -1 validated p.K96E 0.998 565 0% 327 30% 12 25% benign(0.181) tolerated(0.18) neutral(0.073) NULL C3orf17 25871 genome.wustl.edu 37 3 112736447 112736447 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015412.3 -1 validated p.L37F 0.000 378 0% 232 22.4% 4 50% possibly_damaging(0.635) tolerated(0.16) neutral(0.281) NULL BOC 91653 genome.wustl.edu 37 3 112998237 112998237 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033254.2 +1 validated p.W652L 1.000 58 0% 28 28.6% 13 7.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III BOC 91653 genome.wustl.edu 37 3 113002257 113002257 + Splice_Site SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033254.2 +1 validated e14-1 1.000 322 0.3% 193 22.8% 0 - - - - - SPICE1 152185 genome.wustl.edu 37 3 113187080 113187080 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144718.3 -1 validated p.R354H 0.728 267 0.4% 176 21.6% 7 42.8% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL KIAA2018 205717 genome.wustl.edu 37 3 113378168 113378168 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001009899.2 -1 validated p.L787 0.803 237 0% 172 25.6% 0 - - - - NULL KIAA2018 205717 genome.wustl.edu 37 3 113379553 113379553 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001009899.2 -1 validated p.D326N 0.000 423 0% 277 34.7% 0 - benign(0.076) tolerated(0.8) neutral(0.006) NULL KIAA2018 205717 genome.wustl.edu 37 3 113380103 113380103 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001009899.2 -1 validated p.Q142H 0.393 585 0% 375 31.2% 1 100% probably_damaging(0.96) deleterious(0.01) deleterious(0.808) NULL KIAA2018 205717 genome.wustl.edu 37 3 113393718 113393718 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001009899.2 -1 validated p.E3G 1.000 690 0% 404 30.7% 0 - probably_damaging(0.974) deleterious(0) deleterious(0.861) NULL KIAA1407 57577 genome.wustl.edu 37 3 113724408 113724408 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020817.1 -1 predicted p.H605 0.001 268 0% 183 29% 4 75% - - - NULL QTRTD1 79691 genome.wustl.edu 37 3 113789536 113789536 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024638.2 +1 provisional p.Q133* 1.000 700 0% 432 28% 12 8.3% - - - HMMPfam_TGT,superfamily_tRNA_ribo_trans DRD3 1814 genome.wustl.edu 37 3 113878617 113878617 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000796.3 -1 reviewed p.A123V 1.000 200 0.5% 130 27.7% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like ZBTB20 26137 genome.wustl.edu 37 3 114058137 114058137 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015642.4 -1 validated p.S574R 1.000 213 0% 128 25% 0 - probably_damaging(0.967) deleterious(0) deleterious(0.853) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 GAP43 2596 genome.wustl.edu 37 3 115395341 115395341 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130064.1 +1 reviewed p.P207H 1.000 63 0% 43 27.9% 1 0% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Neuromodulin ARHGAP31 57514 genome.wustl.edu 37 3 119109721 119109721 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020754.2 +1 reviewed p.L258 1.000 145 0% 81 38.3% 2 0% - - - NULL ARHGAP31 57514 genome.wustl.edu 37 3 119121120 119121120 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020754.2 +1 reviewed p.T507 0.998 170 0% 91 34.1% 2 0% - - - NULL ARHGAP31 57514 genome.wustl.edu 37 3 119134413 119134413 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020754.2 +1 reviewed p.P1213S 1.000 354 0% 202 27.7% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ARHGAP31 57514 genome.wustl.edu 37 3 119134757 119134757 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020754.2 +1 reviewed p.E1327 1.000 895 0% 463 29.8% 5 0% - - - NULL TMEM39A 55254 genome.wustl.edu 37 3 119153682 119153682 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018266.1 -1 provisional p.S387N 1.000 295 0% 185 30.3% 54 40.7% probably_damaging(0.978) tolerated(0.52) neutral(0.429) HMMPfam_Tmp39 C3orf15 89876 genome.wustl.edu 37 3 119449081 119449081 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033364.3 +1 validated p.R292H 1.000 665 0% 425 11.1% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL C3orf15 89876 genome.wustl.edu 37 3 119459504 119459504 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033364.3 +1 validated p.L548M 0.889 124 0.8% 92 27.2% 2 0% possibly_damaging(0.918) tolerated(0.16) neutral(0.428) NULL NR1I2 8856 genome.wustl.edu 37 3 119531539 119531539 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022002.2 +1 reviewed p.G215R 0.003 189 0% 69 24.6% 0 - benign(0.003) tolerated(0.29) neutral(0.029) superfamily_Str_ncl_receptor GTF2E1 2960 genome.wustl.edu 37 3 120500038 120500038 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005513.2 +1 validated p.T347 0.000 294 0% 193 16.6% 10 40% - - - NULL STXBP5L 9515 genome.wustl.edu 37 3 121126130 121126130 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014980.2 +1 validated p.S900 1.000 126 0% 99 12.1% 0 - - - - NULL POLQ 10721 genome.wustl.edu 37 3 121186433 121186433 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_199420.3 -1 validated p.E2300D 0.000 204 0% 139 17.3% 5 20% probably_damaging(0.971) tolerated(0.32) neutral(0.437) HMMPfam_DNA_pol_A,superfamily_DNA/RNA polymerases POLQ 10721 genome.wustl.edu 37 3 121238786 121238786 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_199420.3 -1 validated p.R467Q 0.001 368 0% 227 31.7% 2 0% benign(0.009) tolerated(0.82) neutral(0.001) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases POLQ 10721 genome.wustl.edu 37 3 121263590 121263590 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_199420.3 -1 validated p.K109N 1.000 136 0% 91 34.1% 0 - probably_damaging(0.979) deleterious(0.02) deleterious(0.805) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases FBXO40 51725 genome.wustl.edu 37 3 121340441 121340441 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016298.3 +1 validated p.Q55 0.598 233 0% 140 17.9% 0 - - - - superfamily_TRAF domain-like HCLS1 3059 genome.wustl.edu 37 3 121351365 121351365 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005335.4 -1 validated p.L352I 0.002 442 0.2% 295 18.3% 28 14.2% benign(0.256) tolerated(0.93) neutral(0.026) NULL HCLS1 3059 genome.wustl.edu 37 3 121355326 121355326 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005335.4 -1 validated p.K192N 1.000 288 0% 228 22.4% 25 0% probably_damaging(0.959) deleterious(0.02) deleterious(0.786) HMMPfam_HS1_rep GOLGB1 2804 genome.wustl.edu 37 3 121413688 121413688 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004487.3 -1 validated p.E1889D 0.996 949 0.1% 601 30.8% 18 100% probably_damaging(0.996) tolerated(0.3) deleterious(0.490) NULL ILDR1 286676 genome.wustl.edu 37 3 121724181 121724181 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175924.2 -1 provisional p.R97W 1.000 51 0% 30 33.3% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_IG,superfamily_SSF48726 CASR 846 genome.wustl.edu 37 3 122002979 122002979 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000388.3 +1 reviewed p.L726 0.998 164 0% 86 12.8% 0 - - - - HMMPfam_7tm_3 FAM162A 26355 genome.wustl.edu 37 3 122123104 122123104 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014367.3 +1 validated e3-1 0.236 119 0% 88 10.2% 1 100% - - - - PARP9 83666 genome.wustl.edu 37 3 122255789 122255789 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031458.2 -1 validated p.V668I 0.249 1489 0.1% 895 28.7% 31 35.4% benign(0.32) tolerated(0.88) neutral(0.100) HMMPfam_PARP,superfamily_ADP-ribosylation PARP9 83666 genome.wustl.edu 37 3 122255852 122255852 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031458.2 -1 validated p.P647S 0.000 1651 0% 970 15.8% 23 26% benign(0.344) tolerated(0.56) neutral(0.115) HMMPfam_PARP,superfamily_ADP-ribosylation DTX3L 151636 genome.wustl.edu 37 3 122287435 122287435 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138287.3 +1 validated p.G167C 0.789 233 0% 132 21.2% 12 16.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DTX3L 151636 genome.wustl.edu 37 3 122288287 122288287 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138287.3 +1 validated p.E451* 0.192 435 0% 222 24.3% 11 9% - - - NULL PARP15 165631 genome.wustl.edu 37 3 122354665 122354665 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001113523.1 +1 validated p.S585 0.002 401 0% 247 32% 2 0% - - - HMMPfam_PARP,superfamily_ADP-ribosylation PARP14 54625 genome.wustl.edu 37 3 122447444 122447444 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017554.2 +1 validated p.*1802 0.164 484 0% 300 33% 12 16.6% - - - NULL DIRC2 84925 genome.wustl.edu 37 3 122591312 122591312 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032839.2 +1 reviewed p.V397M 0.244 316 0% 216 28.2% 6 83.3% benign(0.291) tolerated(0.13) neutral(0.342) superfamily_MFS general substrate transporter PDIA5 10954 genome.wustl.edu 37 3 122808056 122808056 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000316218 +1 known p.S28 0.617 241 0.4% 100 25% 29 86.2% - - - superfamily_Thiordxn-like_fd PDIA5 10954 genome.wustl.edu 37 3 122880298 122880298 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000316218 +1 known p.R492H 0.992 148 0.7% 78 14.1% 49 8.1% probably_damaging(0.981) deleterious(0.01) deleterious(0.831) superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin ADCY5 111 genome.wustl.edu 37 3 123036914 123036914 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_183357.1 -1 validated p.S769 0.999 100 0% 32 25% 4 25% - - - NULL ADCY5 111 genome.wustl.edu 37 3 123047511 123047511 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_183357.1 -1 validated p.M595I 1.000 93 0% 42 16.7% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase,PatternScan_GUANYLATE_CYCLASE_1 CCDC14 64770 genome.wustl.edu 37 3 123634551 123634551 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022757.4 -1 validated p.S605N 1.000 379 0% 222 32.4% 22 31.8% possibly_damaging(0.896) tolerated(0.07) deleterious(0.672) NULL ROPN1 54763 genome.wustl.edu 37 3 123694287 123694287 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017578.2 -1 provisional p.R112H 1.000 610 0% 342 17.3% 2 0% possibly_damaging(0.891) tolerated(0.14) deleterious(0.600) NULL KALRN 8997 genome.wustl.edu 37 3 123983391 123983391 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001024660.3 +1 reviewed p.G102C 1.000 79 0% 38 21.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00516,superfamily_CRAL/TRIO domain KALRN 8997 genome.wustl.edu 37 3 124044968 124044968 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001024660.3 +1 reviewed p.R410C 1.000 154 0% 99 32.3% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat KALRN 8997 genome.wustl.edu 37 3 124053131 124053131 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001024660.3 +1 reviewed p.A477V 1.000 201 0% 120 19.2% 3 0% benign(0.007) tolerated(0.1) neutral(0.286) HMMSmart_SM00150,superfamily_Spectrin repeat KALRN 8997 genome.wustl.edu 37 3 124390656 124390656 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001024660.3 +1 reviewed p.P2284T 1.000 326 0% 175 26.9% 1 0% benign(0.338) tolerated(0.27) neutral(0.140) NULL KALRN 8997 genome.wustl.edu 37 3 124438023 124438023 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000354186 +1 known p.V2858A 0.998 119 0% 63 28.6% 1 0% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase KALRN 8997 genome.wustl.edu 37 3 124438030 124438030 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001024660.3 +1 reviewed p.V2892I 0.996 125 0% 67 34.3% 1 0% benign(0.019) tolerated(1) neutral(0.001) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ITGB5 3693 genome.wustl.edu 37 3 124483248 124483248 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002213.3 -1 provisional p.R765H 1.000 74 0% 47 38.3% 120 30% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Integrin_b_cyt ZNF148 7707 genome.wustl.edu 37 3 124952147 124952147 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021964.2 -1 validated p.R475W 1.000 388 0% 289 31.8% 26 42.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ROPN1B 152015 genome.wustl.edu 37 3 125701290 125701290 + Splice_Site SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001012337.1 +1 provisional e4+2 0.997 163 0% 86 17.4% 0 - - - - - SLC41A3 54946 genome.wustl.edu 37 3 125775347 125775347 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001008487.1 -1 validated p.L17 1.000 113 0% 55 20% 0 - - - - NULL ALDH1L1 10840 genome.wustl.edu 37 3 125833457 125833457 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012190.2 -1 reviewed p.G675 0.896 122 0% 65 16.9% 5 0% - - - HMMPfam_Aldedh,PatternScan_ALDEHYDE_DEHYDR_GLU,superfamily_Aldehyde_DH/Histidinol_DH ALDH1L1 10840 genome.wustl.edu 37 3 125879823 125879823 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000273450 -1 known p.T10 0.652 69 0% 34 23.5% 2 50% - - - NULL ZXDC 79364 genome.wustl.edu 37 3 126160636 126160636 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025112.4 -1 validated p.A789V 0.003 49 0% 16 25% 17 70.5% possibly_damaging(0.509) - - NULL UROC1 131669 genome.wustl.edu 37 3 126218932 126218932 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144639.2 -1 reviewed p.G404D 1.000 46 0% 21 28.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Urocanase,superfamily_Urocanase PLXNA1 5361 genome.wustl.edu 37 3 126708273 126708273 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032242.3 +1 validated p.T256 1.000 76 0% 32 37.5% 11 63.6% - - - HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain PLXNA1 5361 genome.wustl.edu 37 3 126751634 126751634 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032242.3 +1 validated p.S1827 0.994 34 0% 18 33.3% 20 30% - - - superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl MCM2 4171 genome.wustl.edu 37 3 127335872 127335872 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004526.2 +1 reviewed p.R562W 1.000 99 0% 58 24.1% 58 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MCM,HMMSmart_MCM,superfamily_SSF52540 MCM2 4171 genome.wustl.edu 37 3 127336822 127336822 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000491422 +1 known p.T569M 0.959 49 0% 28 42.9% 68 39.7% - - - HMMPfam_MCM,HMMSmart_SM00350,superfamily_P-loop containing nucleoside triphosphate hydrolases PODXL2 50512 genome.wustl.edu 37 3 127379566 127379566 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015720.2 +1 validated p.G232D 0.004 169 0% 102 25.5% 125 42.4% unknown(0) tolerated(0.36) - NULL KBTBD12 166348 genome.wustl.edu 37 3 127702943 127702943 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207335.2 +1 validated p.R565H 1.000 212 0% 86 18.6% 0 - probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain CNBP 7555 genome.wustl.edu 37 3 128890121 128890121 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003418.4 -1 reviewed e3-1 1.000 238 0.4% 115 27% 170 67% - - - - COPG1 22820 genome.wustl.edu 37 3 128979599 128979599 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016128.3 +1 validated p.R359 0.982 168 0.6% 75 29.3% 202 45.5% - - - HMMPfam_Adaptin_N,superfamily_ARM repeat SNORA7B 677797 genome.wustl.edu 37 3 129116060 129116060 + RNA SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NR_002992.2 -1 provisional NULL 0.979 296 0% 147 32.7% 1 100% - - - - C3orf25 90288 genome.wustl.edu 37 3 129134203 129134203 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000326085 -1 known p.V241 0.510 134 0% 55 25.5% 0 - - - - superfamily_SSF47473 C3orf25 90288 genome.wustl.edu 37 3 129140304 129140304 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000326085 -1 known p.S131I 0.000 241 0.4% 124 27.4% 2 0% possibly_damaging(0.488) tolerated(0.09) neutral(0.459) NULL MBD4 8930 genome.wustl.edu 37 3 129152785 129152785 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003925.1 -1 reviewed p.P440H 1.000 244 0% 154 24.7% 28 67.8% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_DNA-glycosylase IFT122 55764 genome.wustl.edu 37 3 129207187 129207187 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052985.2 +1 reviewed p.R698C 1.000 214 0% 110 27.3% 21 61.9% possibly_damaging(0.882) deleterious(0.02) deleterious(0.728) NULL RHO 6010 genome.wustl.edu 37 3 129251519 129251519 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000539.3 +1 reviewed p.G280 0.999 57 0% 29 24.1% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 ASTE1 28990 genome.wustl.edu 37 3 130743508 130743508 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014065.2 -1 validated p.L215 0.289 217 0% 123 26% 3 33.3% - - - superfamily_SSF88723 NUDT16 131870 genome.wustl.edu 37 3 131102167 131102167 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152395.2 +1 validated p.K157N 0.009 72 0% 39 15.4% 30 13.3% unknown(0) tolerated(0.08) - NULL ACPP 55 genome.wustl.edu 37 3 132061471 132061471 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001134194.1 +1 reviewed p.D211N 0.999 361 0% 223 30% 3 66.6% probably_damaging(1) tolerated(0.11) deleterious(0.772) HMMPfam_Acid_phosphat_A,superfamily_SSF53254 DNAJC13 23317 genome.wustl.edu 37 3 132175372 132175372 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015268.3 +1 validated p.R376M 1.000 173 0% 118 18.6% 6 16.6% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL DNAJC13 23317 genome.wustl.edu 37 3 132179925 132179925 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015268.3 +1 validated p.S530* 1.000 179 0% 100 30% 3 0% - - - superfamily_ARM repeat ACAD11 84129 genome.wustl.edu 37 3 132360835 132360835 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032169.4 -1 validated p.A173V 0.000 694 0% 359 25.9% 2 0% benign(0) tolerated(0.35) neutral(0.021) HMMPfam_APH,superfamily_Protein kinase-like (PK-like) TMEM108 66000 genome.wustl.edu 37 3 133098626 133098626 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001136469.1 +1 validated p.A24V 0.409 1289 0% 648 26.4% 6 100% probably_damaging(0.983) deleterious(0) deleterious(0.873) PatternScan_TONB_DEPENDENT_REC_1 TMEM108 66000 genome.wustl.edu 37 3 133099861 133099861 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001136469.1 +1 validated p.A436T 0.991 113 0% 67 31.3% 5 80% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TMEM108 66000 genome.wustl.edu 37 3 133114804 133114804 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001136469.1 +1 validated p.G568* 1.000 129 0% 72 11.1% 1 0% - - - NULL TOPBP1 11073 genome.wustl.edu 37 3 133347453 133347453 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007027.3 -1 reviewed p.A882D 0.003 107 0% 70 22.9% 12 66.6% benign(0.406) tolerated(0.63) neutral(0.134) NULL TF 7018 genome.wustl.edu 37 3 133476628 133476628 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001063.3 +1 reviewed p.D296Y 0.007 160 0% 63 31.7% 1 0% unknown(0) - - HMMPfam_Transferrin,HMMSmart_SM00094,superfamily_Periplasmic binding protein-like II RAB6B 51560 genome.wustl.edu 37 3 133560186 133560186 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016577.3 -1 validated p.L78M 1.000 130 0% 71 18.3% 8 100% 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 KY 339855 genome.wustl.edu 37 3 134322546 134322546 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178554.4 -1 validated p.H621N 0.004 167 0% 108 37% 0 - benign(0) tolerated(0.15) neutral(0.241) NULL KY 339855 genome.wustl.edu 37 3 134348501 134348501 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178554.4 -1 validated p.A100V 0.289 26 0% 14 35.7% 0 - benign(0.344) deleterious(0.01) deleterious(0.514) NULL EPHB1 2047 genome.wustl.edu 37 3 134911607 134911607 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004441.4 +1 reviewed p.R691Q 0.999 158 0% 95 32.6% 2 0% probably_damaging(1) tolerated(0.12) deleterious(0.760) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) MSL2 55167 genome.wustl.edu 37 3 135870123 135870123 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018133.3 -1 validated p.I534V 1.000 191 0% 97 15.5% 27 40.7% possibly_damaging(0.63) deleterious(0.02) deleterious(0.603) NULL STAG1 10274 genome.wustl.edu 37 3 136287655 136287655 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005862.2 -1 reviewed p.A116T 1.000 94 0% 69 33.3% 9 55.5% probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_ARM-type_fold ARMC8 25852 genome.wustl.edu 37 3 137982647 137982647 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015396.3 +1 validated p.R387W 1.000 491 0.2% 274 19.7% 24 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_ARM,superfamily_ARM-type_fold MRAS 22808 genome.wustl.edu 37 3 138091917 138091917 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001085049.1 +1 validated p.D64 0.978 244 0% 170 18.8% 5 20% - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases ESYT3 83850 genome.wustl.edu 37 3 138191204 138191204 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031913.3 +1 validated e18-1 1.000 168 0% 97 33% 1 100% - - - - CEP70 80321 genome.wustl.edu 37 3 138219239 138219239 + Splice_Site SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024491.2 -1 validated e13+2 1.000 513 0% 377 27.1% 2 100% - - - - FAIM 55179 genome.wustl.edu 37 3 138340351 138340351 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001033030.1 +1 validated p.S61 0.942 194 0% 134 14.2% 23 26% - - - HMMPfam_FAIM1 COPB2 9276 genome.wustl.edu 37 3 139077103 139077103 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000503326 -1 known p.W68* 0.974 299 0% 213 31.5% 343 44.6% benign(0) tolerated(1) - NULL CLSTN2 64084 genome.wustl.edu 37 3 140140099 140140099 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022131.2 +1 validated p.C257Y 1.000 242 0.4% 169 33.1% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00112 ACPL2 92370 genome.wustl.edu 37 3 141006295 141006295 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001037172.1 +1 validated p.G169* 1.000 367 0.3% 206 28.6% 4 25% - - - HMMPfam_Acid_phosphat_A,superfamily_Phosphoglycerate mutase-like RASA2 5922 genome.wustl.edu 37 3 141328318 141328318 + Frame_Shift_Del DEL T T - novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006506.2 +1 reviewed p.Y762fs 1.000 - - - - - - - - - NULL TFDP2 7029 genome.wustl.edu 37 3 141724350 141724350 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000489671 -1 known p.T40I 1.000 111 0% 80 31.2% 33 60.6% benign(0.406) tolerated(0.52) neutral(0.139) NULL GK5 256356 genome.wustl.edu 37 3 141917682 141917682 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001039547.2 -1 validated p.S169T 0.787 231 0% 160 26.9% 7 0% benign(0.007) tolerated(1) - HMMPfam_FGGY_N,superfamily_Actin-like ATPase domain XRN1 54464 genome.wustl.edu 37 3 142095358 142095358 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019001.3 -1 validated p.T932A 1.000 291 0% 246 15.4% 4 0% probably_damaging(0.969) deleterious(0) deleterious(0.856) NULL XRN1 54464 genome.wustl.edu 37 3 142122802 142122802 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019001.3 -1 validated p.R638H 0.997 149 0% 115 12.2% 3 0% benign(0.005) tolerated(0.21) neutral(0.044) NULL ATR 545 genome.wustl.edu 37 3 142188237 142188237 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001184.3 -1 reviewed p.A2165V 1.000 411 0% 340 25.6% 10 10% benign(0) tolerated(1) - superfamily_ARM repeat ATR 545 genome.wustl.edu 37 3 142224006 142224006 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001184.3 -1 reviewed p.R1724M 1.000 446 0.2% 284 15.1% 2 100% possibly_damaging(0.876) deleterious(0.03) deleterious(0.706) superfamily_ARM repeat,superfamily_TPR-like ATR 545 genome.wustl.edu 37 3 142281203 142281203 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001184.3 -1 reviewed p.C347* 0.981 183 0% 125 33.6% 3 33.3% - - - superfamily_ARM repeat PCOLCE2 26577 genome.wustl.edu 37 3 142539831 142539831 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013363.3 -1 validated p.V336F 0.251 186 0% 102 12.7% 15 0% benign(0.006) deleterious(0.01) neutral(0.406) superfamily_TIMP-like,HMMPfam_NTR,HMMSmart_SM00643 PAQR9 344838 genome.wustl.edu 37 3 142681133 142681133 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198504.2 -1 validated p.T349I 1.000 130 0% 59 18.6% 2 0% probably_damaging(0.999) tolerated(0.09) deleterious(0.787) NULL SLC9A9 285195 genome.wustl.edu 37 3 143297448 143297448 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173653.3 -1 reviewed p.A291 0.485 232 0% 166 16.3% 0 - - - - HMMPfam_Na_H_Exchanger C3orf58 205428 genome.wustl.edu 37 3 143704658 143704658 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173552.3 +1 validated p.L311 1.000 505 0.2% 306 27.1% 34 55.8% - - - NULL PLOD2 5352 genome.wustl.edu 37 3 145788912 145788912 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182943.2 -1 reviewed p.R680* 0.206 120 0% 104 10.6% 86 1.1% - - - HMMPfam_2OG-FeII_Oxy,HMMSmart_P4Hc PLSCR5 389158 genome.wustl.edu 37 3 146307469 146307469 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001085420.1 -1 validated p.A250T 1.000 341 0% 287 27.2% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Scramblase AGTR1 185 genome.wustl.edu 37 3 148458962 148458962 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000685.4 +1 reviewed p.S47N 1.000 202 0% 123 33.3% 0 - probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CPB1 1360 genome.wustl.edu 37 3 148558521 148558521 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001871.2 +1 reviewed p.S107 0.929 228 0% 140 23.6% 0 - - - - superfamily_Protease propeptides/inhibitors HLTF 6596 genome.wustl.edu 37 3 148757466 148757466 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003071.3 -1 reviewed p.M839I 1.000 71 0% 42 40.5% 35 28.5% possibly_damaging(0.633) tolerated(0.54) neutral(0.229) superfamily_P-loop containing nucleoside triphosphate hydrolases HLTF 6596 genome.wustl.edu 37 3 148781309 148781309 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003071.3 -1 reviewed p.A357T 0.737 161 0% 83 27.7% 24 50% benign(0.013) tolerated(0.18) neutral(0.057) HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases HPS3 84343 genome.wustl.edu 37 3 148889919 148889919 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032383.3 +1 reviewed p.K975N 0.393 187 0.5% 117 29.1% 34 44.1% benign(0.313) tolerated(0.15) neutral(0.339) NULL CP 1356 genome.wustl.edu 37 3 148923990 148923990 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000096.3 -1 reviewed p.D391 0.254 482 0% 305 23.9% 6 0% - - - superfamily_Cupredoxins TM4SF1 4071 genome.wustl.edu 37 3 149093354 149093354 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014220.2 -1 reviewed p.A97S 0.854 251 0% 113 36.3% 63 26.9% probably_damaging(0.999) tolerated(0.21) deleterious(0.534) HMMPfam_L6_membrane RNF13 11342 genome.wustl.edu 37 3 149613269 149613269 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007282.4 +1 reviewed p.A111T 1.000 235 0% 158 29.1% 32 25% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_PA,superfamily_Transferrin receptor ectodomain apical domain TSC22D2 9819 genome.wustl.edu 37 3 150140862 150140862 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014779.2 +1 provisional p.A662V 1.000 276 0% 160 29.4% 0 - possibly_damaging(0.915) deleterious(0) deleterious(0.811) NULL ENSG00000198843 0 genome.wustl.edu 37 3 150344832 150344832 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000361622 +1 known p.L167F 1.000 154 0% 84 22.6% 165 43.6% possibly_damaging(0.874) tolerated(0.56) neutral(0.346) HMMPfam_SelT FAM194A 131831 genome.wustl.edu 37 3 150377907 150377907 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152394.3 -1 validated p.Y588 0.000 304 0% 162 24.1% 0 - - - - NULL GPR171 29909 genome.wustl.edu 37 3 150916434 150916434 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013308.3 -1 validated p.T247I 1.000 246 0% 156 28.2% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 MED12L 116931 genome.wustl.edu 37 3 151090521 151090521 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_053002.4 +1 reviewed p.Y1242 1.000 293 0% 258 31% 0 - - - - NULL MED12L 116931 genome.wustl.edu 37 3 151094661 151094661 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_053002.4 +1 reviewed p.P1341H 1.000 221 0% 117 19.7% 0 - benign(0.132) deleterious(0.02) neutral(0.394) NULL IGSF10 285313 genome.wustl.edu 37 3 151154876 151154876 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178822.4 -1 validated p.L2491 0.870 483 0.2% 273 33.3% 3 33.3% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin IGSF10 285313 genome.wustl.edu 37 3 151166507 151166507 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178822.4 -1 validated p.D421A 0.118 329 0.3% 214 22% 0 - possibly_damaging(0.471) deleterious(0.02) deleterious(0.538) NULL AADAC 13 genome.wustl.edu 37 3 151531999 151531999 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001086.2 +1 reviewed p.Y17H 0.170 185 0% 178 12.4% 3 33.3% benign(0.211) deleterious(0.01) neutral(0.426) NULL PLCH1 23007 genome.wustl.edu 37 3 155198928 155198928 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130960.1 -1 validated p.G1637 0.997 70 0% 20 20% 9 33.3% - - - NULL PLCH1 23007 genome.wustl.edu 37 3 155311754 155311754 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130960.1 -1 validated p.A137V 1.000 125 0% 54 29.6% 7 28.5% benign(0.01) deleterious(0.03) neutral(0.365) NULL PLCH1 23007 genome.wustl.edu 37 3 155311974 155311974 + Splice_Site SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130960.1 -1 validated e3-1 1.000 165 0% 79 41.8% 0 - - - - - KCNAB1 7881 genome.wustl.edu 37 3 156175299 156175299 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_172160.2 +1 reviewed p.A139T 0.997 308 0% 212 22.2% 1 0% possibly_damaging(0.704) deleterious(0) deleterious(0.698) HMMPfam_Aldo_ket_red,superfamily_NAD(P)-linked oxidoreductase LEKR1 389170 genome.wustl.edu 37 3 156763369 156763369 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004316.2 +1 validated p.R333C 0.017 265 0% 152 30.3% 0 - benign(0.003) tolerated(0.06) neutral(0.323) NULL CCNL1 57018 genome.wustl.edu 37 3 156870864 156870864 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020307.2 -1 validated p.K190N 1.000 326 0% 205 27.3% 18 66.6% probably_damaging(0.965) deleterious(0.01) deleterious(0.812) HMMSmart_SM00385,HMMPfam_Cyclin_N,superfamily_Cyclin-like VEPH1 79674 genome.wustl.edu 37 3 156978994 156978994 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024621.2 -1 validated p.L811I 1.000 279 0% 207 35.7% 0 - possibly_damaging(0.796) tolerated(0.16) neutral(0.358) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like VEPH1 79674 genome.wustl.edu 37 3 157099000 157099000 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024621.2 -1 validated p.A358T 0.704 252 0% 157 31.2% 0 - benign(0.002) tolerated(1) - NULL VEPH1 79674 genome.wustl.edu 37 3 157178120 157178120 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024621.2 -1 validated p.A127T 0.996 362 0% 265 36.2% 1 0% benign(0.012) tolerated(0.67) neutral(0.003) NULL SHOX2 6474 genome.wustl.edu 37 3 157820598 157820598 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006884.3 -1 reviewed p.R142* 1.000 204 0% 92 25% 0 - - - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like SHOX2 6474 genome.wustl.edu 37 3 157823714 157823714 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006884.3 -1 reviewed p.L34M 1.000 25 0% 13 30.8% 0 - possibly_damaging(0.753) tolerated(0.11) deleterious(0.548) NULL RSRC1 51319 genome.wustl.edu 37 3 158262054 158262054 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016625.2 +1 provisional p.P332H 1.000 359 0% 244 32.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MLF1 4291 genome.wustl.edu 37 3 158315948 158315948 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022443.3 +1 validated p.P120L 0.999 192 0% 136 12.5% 1 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Mlf1IP GFM1 85476 genome.wustl.edu 37 3 158408050 158408050 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024996.5 +1 reviewed p.R670* 1.000 468 0% 301 27.9% 61 24.5% - - - HMMPfam_EFG_C,superfamily_EFG_III_V SCHIP1 29970 genome.wustl.edu 37 3 159614533 159614533 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000473061 +1 known p.A91T 1.000 234 0% 132 20.5% 4 0% - - - HMMPfam_SCHIP-1 IFT80 57560 genome.wustl.edu 37 3 160000380 160000380 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020800.1 -1 validated p.L468M 1.000 104 0% 67 17.9% 8 50% probably_damaging(1) tolerated(0.07) deleterious(0.819) superfamily_Cyt_cd1_haem_C KPNA4 3840 genome.wustl.edu 37 3 160225976 160225976 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002268.3 -1 reviewed p.V431I 1.000 91 0% 46 45.7% 53 81.1% benign(0.067) tolerated(0.62) neutral(0.009) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat SCARNA7 677767 genome.wustl.edu 37 3 160232907 160232907 + RNA SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NR_003001.1 -1 provisional NULL 0.940 351 0% 243 30.5% 0 - - - - - KPNA4 3840 genome.wustl.edu 37 3 160239644 160239644 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002268.3 -1 reviewed p.Q276* 1.000 292 0% 177 31.1% 32 3.1% - - - HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat ARL14 80117 genome.wustl.edu 37 3 160395411 160395411 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025047.2 +1 validated p.D93Y 0.993 489 0% 275 24.4% 0 - probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMSmart_SM00175,HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases PPM1L 151742 genome.wustl.edu 37 3 160474185 160474185 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_139245.2 +1 provisional p.C30Y 1.000 94 0% 38 34.2% 2 50% possibly_damaging(0.918) deleterious(0.03) deleterious(0.733) NULL B3GALNT1 8706 genome.wustl.edu 37 3 160803765 160803765 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001038628.1 -1 reviewed p.V260I 0.951 232 0% 175 29.1% 38 39.4% benign(0.018) tolerated(0.6) neutral(0.005) HMMPfam_Galactosyl_T OTOL1 131149 genome.wustl.edu 37 3 161214716 161214716 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080440.1 +1 provisional p.P41S 0.002 195 0% 132 28.8% 0 - probably_damaging(0.994) tolerated(0.06) deleterious(0.774) NULL SI 6476 genome.wustl.edu 37 3 164766930 164766930 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001041.3 -1 reviewed p.A567D 0.922 137 0% 169 11.2% 0 - possibly_damaging(0.951) deleterious(0) deleterious(0.839) HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases SI 6476 genome.wustl.edu 37 3 164786559 164786559 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001041.3 -1 reviewed p.S145N 0.000 258 0% 189 11.6% 0 - benign(0) tolerated(0.86) neutral(0.001) NULL SLITRK3 22865 genome.wustl.edu 37 3 164905988 164905988 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014926.2 -1 validated p.G877 0.999 256 0% 158 31.6% 0 - - - - NULL SLITRK3 22865 genome.wustl.edu 37 3 164906343 164906343 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014926.2 -1 validated p.R759H 0.951 242 0% 146 10.3% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL SLITRK3 22865 genome.wustl.edu 37 3 164907130 164907130 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014926.2 -1 validated p.P497S 1.000 180 0% 106 13.2% 0 - benign(0.329) tolerated(0.12) neutral(0.363) superfamily_SSF52058 BCHE 590 genome.wustl.edu 37 3 165547333 165547333 + Nonsense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000055.2 -1 reviewed p.K497* 1.000 222 0% 219 32% 3 0% - - - HMMPfam_COesterase,superfamily_SSF53474 BCHE 590 genome.wustl.edu 37 3 165547468 165547468 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000055.2 -1 reviewed p.R452* 1.000 393 0% 350 28.6% 0 - - - - HMMPfam_COesterase,superfamily_SSF53474 SERPINI2 5276 genome.wustl.edu 37 3 167159965 167159965 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006217.3 -1 reviewed p.L384M 1.000 59 0% 57 26.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin MECOM 2122 genome.wustl.edu 37 3 168834474 168834474 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000494292 -1 known p.R396C 1.000 269 0.7% 165 12.7% 58 13.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MECOM 2122 genome.wustl.edu 37 3 168838909 168838909 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000494292 -1 known p.T356M 1.000 56 0% 36 36.1% 59 35.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SAMD7 344658 genome.wustl.edu 37 3 169639020 169639020 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182610.2 +1 provisional p.T35 0.002 343 0% 227 11% 0 - - - - NULL SEC62 7095 genome.wustl.edu 37 3 169710486 169710486 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003262.3 +1 reviewed p.R279G 1.000 420 0.2% 246 10.2% 97 16.4% possibly_damaging(0.939) tolerated(0.1) deleterious(0.671) HMMPfam_Sec62 PHC3 80012 genome.wustl.edu 37 3 169840497 169840497 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024947.3 -1 validated p.M608I 1.000 227 0% 154 29.2% 10 30% benign(0.001) tolerated(0.38) neutral(0.018) NULL SLC2A2 6514 genome.wustl.edu 37 3 170720395 170720395 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000340.1 -1 reviewed p.G346 0.001 99 0% 76 23.7% 0 - - - - HMMPfam_Sugar_tr,superfamily_MFS_gen_substrate_transporter SLC2A2 6514 genome.wustl.edu 37 3 170723839 170723839 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000340.1 -1 reviewed p.G223V 1.000 150 0% 118 37.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Sugar_tr,superfamily_MFS_gen_substrate_transporter TNIK 23043 genome.wustl.edu 37 3 170797341 170797341 + Silent SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015028.2 -1 validated p.V1138 0.925 156 0% 130 28.5% 1 100% - - - HMMPfam_CNH,HMMSmart_SM00036 FNDC3B 64778 genome.wustl.edu 37 3 172003744 172003744 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001135095.1 +1 validated p.Q273H 0.999 229 0.4% 157 28% 34 38.2% benign(0.027) deleterious(0.03) neutral(0.366) NULL GHSR 2693 genome.wustl.edu 37 3 172165693 172165693 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198407.2 -1 reviewed p.A171T 1.000 54 0% 36 27.8% 0 - possibly_damaging(0.53) deleterious(0) deleterious(0.623) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SPATA16 83893 genome.wustl.edu 37 3 172642042 172642042 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031955.5 -1 reviewed p.R432* 0.936 346 0% 264 27.7% 0 - - - - NULL SPATA16 83893 genome.wustl.edu 37 3 172674493 172674493 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031955.5 -1 reviewed p.P352H 1.000 286 0% 214 30.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_TPR-like NLGN1 22871 genome.wustl.edu 37 3 173998848 173998848 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014932.2 +1 reviewed p.E743* 1.000 229 0% 214 27.6% 0 - - - - NULL NAALADL2 254827 genome.wustl.edu 37 3 175473043 175473043 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207015.2 +1 validated p.A676T 1.000 140 0% 71 23.9% 7 28.5% probably_damaging(1) tolerated(0.11) deleterious(0.772) superfamily_Transferrin receptor ectodomain C-terminal domain KCNMB2 10242 genome.wustl.edu 37 3 178546115 178546115 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005832.3 +1 reviewed p.K126R 1.000 157 0% 70 11.4% 1 0% benign(0) tolerated(0.61) neutral(0.004) HMMPfam_CaKB ZMAT3 64393 genome.wustl.edu 37 3 178748699 178748699 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022470.3 -1 reviewed p.A120V 0.103 412 0% 224 32.6% 7 14.2% benign(0) tolerated(0.36) neutral(0.020) NULL PIK3CA 5290 genome.wustl.edu 37 3 178916537 178916537 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006218.2 +1 reviewed e1-1 1.000 74 0% 42 50% 0 - - - - - ZNF639 51193 genome.wustl.edu 37 3 179051880 179051880 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016331.1 +1 provisional p.C376 1.000 254 0% 150 28.7% 61 36% - - - HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 PEX5L 51555 genome.wustl.edu 37 3 179533678 179533678 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016559.1 -1 provisional p.A352S 1.000 206 0.5% 117 15.4% 0 - possibly_damaging(0.836) deleterious(0) deleterious(0.764) superfamily_TPR-like PEX5L 51555 genome.wustl.edu 37 3 179537667 179537667 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016559.1 -1 provisional p.T307N 0.756 195 0% 126 30.2% 0 - benign(0.004) tolerated(0.43) neutral(0.013) NULL PEX5L 51555 genome.wustl.edu 37 3 179537755 179537755 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016559.1 -1 provisional p.E278* 1.000 227 0% 129 24% 0 - - - - NULL TTC14 151613 genome.wustl.edu 37 3 180324274 180324274 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133462.3 +1 validated p.A352V 1.000 257 0% 161 29.2% 7 57.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like TTC14 151613 genome.wustl.edu 37 3 180327771 180327771 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133462.3 +1 validated p.E585A 1.000 687 0% 416 27.6% 13 38.4% unknown(0) deleterious(0.01) - NULL FXR1 8087 genome.wustl.edu 37 3 180666281 180666281 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005087.2 +1 reviewed p.E139D 1.000 216 0% 142 31% 49 87.7% benign(0.001) tolerated(0.44) neutral(0.013) NULL FXR1 8087 genome.wustl.edu 37 3 180671577 180671577 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005087.2 +1 reviewed p.G277S 1.000 408 0% 244 29.9% 47 17% benign(0) tolerated(1) - HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) FXR1 8087 genome.wustl.edu 37 3 180675717 180675717 + Splice_Site SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005087.2 +1 reviewed e10+1 1.000 337 0.3% 223 26.5% 2 100% - - - - ATP11B 23200 genome.wustl.edu 37 3 182584228 182584228 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000498086 +1 known p.Q340* 1.000 216 0% 162 30.9% 11 36.3% benign(0.014) tolerated(0.16) neutral(0.060) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N MCF2L2 23101 genome.wustl.edu 37 3 183014773 183014773 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015078.2 -1 validated p.L496 0.131 243 0% 138 28.3% 1 0% - - - NULL KLHL6 89857 genome.wustl.edu 37 3 183209790 183209790 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_130446.2 -1 validated p.S597 0.052 51 0% 28 28.6% 3 0% - - - HMMSmart_Kelch,superfamily_Gal_oxid_central KLHL6 89857 genome.wustl.edu 37 3 183209839 183209839 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_130446.2 -1 validated p.P581L 0.948 73 0% 37 35.1% 1 0% benign(0.028) deleterious(0.01) neutral(0.407) HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central KLHL6 89857 genome.wustl.edu 37 3 183245736 183245736 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_130446.2 -1 validated p.D119G 1.000 396 0% 196 25% 1 0% benign(0.244) tolerated(0.36) neutral(0.044) HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB ABCC5 10057 genome.wustl.edu 37 3 183670985 183670985 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000382495 -1 known p.C787R 0.985 178 0% 77 18.2% 7 28.5% benign(0) deleterious(0) neutral(0.445) NULL ABCC5 10057 genome.wustl.edu 37 3 183707141 183707141 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005688.2 -1 reviewed p.A54S 1.000 173 0% 107 28% 19 47.3% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL HTR3D 200909 genome.wustl.edu 37 3 183755896 183755896 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001145143.1 +1 reviewed p.S202G 1.000 298 0% 170 28.8% 0 - probably_damaging(0.999) tolerated(0.82) deleterious(0.491) HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore HTR3C 170572 genome.wustl.edu 37 3 183777337 183777337 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_130770.2 +1 reviewed p.R278 0.002 423 0% 247 29.1% 0 - - - - HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM HTR3E 285242 genome.wustl.edu 37 3 183824455 183824455 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182589.2 +1 reviewed p.T464A 0.023 251 0.4% 109 20.2% 0 - benign(0.012) deleterious(0.01) neutral(0.406) superfamily_Neu_channel_TM DVL3 1857 genome.wustl.edu 37 3 183882926 183882926 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004423.3 +1 reviewed p.S209C 1.000 79 0% 29 24.1% 70 41.4% possibly_damaging(0.928) deleterious(0.01) deleterious(0.781) HMMPfam_Dishevelled DVL3 1857 genome.wustl.edu 37 3 183887840 183887840 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004423.3 +1 reviewed p.A515 0.996 113 0.9% 56 19.6% 52 30.7% - - - superfamily_SSF46785 ECE2 9718 genome.wustl.edu 37 3 183975340 183975340 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014693.3 +1 validated p.V92 0.019 83 0% 35 25.7% 43 37.2% - - - HMMPfam_Methyltransf_11,superfamily_S-adenosyl-L-methionine-dependent methyltransferases PSMD2 5708 genome.wustl.edu 37 3 184026538 184026538 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002808.3 +1 reviewed p.T863A 1.000 315 0% 142 28.2% 307 39.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL EIF4G1 1981 genome.wustl.edu 37 3 184038426 184038426 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182917.3 +1 reviewed p.I182 1.000 131 0% 66 22.7% 176 47.1% - - - NULL EIF4G1 1981 genome.wustl.edu 37 3 184041200 184041200 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182917.3 +1 reviewed p.G698D 1.000 220 0% 143 32.9% 130 40% probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL EIF4G1 1981 genome.wustl.edu 37 3 184042682 184042682 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182917.3 +1 reviewed p.R879H 1.000 105 0% 70 35.7% 212 43.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_MIF4G,HMMSmart_SM00543,superfamily_ARM repeat EIF4G1 1981 genome.wustl.edu 37 3 184045148 184045148 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182917.3 +1 reviewed p.E1191D 1.000 65 0% 38 23.7% 190 48.4% probably_damaging(0.971) tolerated(0.3) neutral(0.442) NULL EIF4G1 1981 genome.wustl.edu 37 3 184052638 184052638 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182917.3 +1 reviewed p.S1581F 1.000 136 0% 74 17.6% 338 44.3% probably_damaging(0.959) deleterious(0) deleterious(0.847) HMMPfam_W2,HMMSmart_SM00515,superfamily_ARM repeat FAM131A 131408 genome.wustl.edu 37 3 184060596 184060596 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144635.4 +1 validated p.E160D 0.986 176 0% 70 20% 10 10% benign(0) tolerated(0.31) neutral(0.027) NULL CLCN2 1181 genome.wustl.edu 37 3 184075622 184075622 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004366.4 -1 reviewed p.S213N 1.000 23 0% 12 50% 7 71.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Voltage_CLC,superfamily_Clc chloride channel POLR2H 5437 genome.wustl.edu 37 3 184084585 184084585 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006232.2 +1 reviewed p.R111H 0.994 57 0% 32 28.1% 240 38.7% unknown(0) tolerated(0.06) - HMMPfam_RNA_pol_Rpb8,HMMSmart_SM00658,superfamily_Nucleic acid-binding proteins EPHB3 2049 genome.wustl.edu 37 3 184297661 184297661 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004443.3 +1 reviewed p.S704I 1.000 71 0% 39 41% 295 44.7% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like EHHADH 1962 genome.wustl.edu 37 3 184922282 184922282 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001966.3 -1 reviewed p.A278T 0.023 511 0% 339 28.3% 3 0% benign(0.116) tolerated(0.06) neutral(0.332) superfamily_SSF52096 MAP3K13 9175 genome.wustl.edu 37 3 185155362 185155362 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004721.3 +1 reviewed p.N201 0.997 307 0% 192 32.8% 0 - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase MAP3K13 9175 genome.wustl.edu 37 3 185183577 185183577 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004721.3 +1 reviewed p.E477D 1.000 221 0.5% 159 25.2% 0 - possibly_damaging(0.58) deleterious(0.02) deleterious(0.582) NULL MAP3K13 9175 genome.wustl.edu 37 3 185198023 185198023 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004721.3 +1 reviewed p.P835 0.998 334 0.3% 157 28.7% 2 50% - - - NULL IGF2BP2 10644 genome.wustl.edu 37 3 185404935 185404935 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006548.4 -1 reviewed p.P241H 1.000 319 0.3% 164 30.5% 1 0% probably_damaging(0.986) deleterious(0.01) deleterious(0.840) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) DGKG 1608 genome.wustl.edu 37 3 185879404 185879404 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001346.2 -1 reviewed p.Q755H 1.000 167 0% 104 27.9% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL DGKG 1608 genome.wustl.edu 37 3 186015902 186015902 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001346.2 -1 reviewed p.T87 0.547 153 0% 71 31% 0 - - - - superfamily_EF-hand TBCCD1 55171 genome.wustl.edu 37 3 186276278 186276278 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001134415.1 -1 validated p.G140 0.100 450 0% 245 27.3% 22 50% - - - NULL AHSG 197 genome.wustl.edu 37 3 186338548 186338548 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001622.2 +1 reviewed p.R311 0.000 316 0% 152 30.3% 0 - - - - NULL KNG1 3827 genome.wustl.edu 37 3 186442943 186442943 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001102416.2 +1 reviewed p.S153N 0.030 56 0% 38 31.6% 0 - benign(0.076) tolerated(0.73) neutral(0.007) HMMPfam_Cystatin,HMMSmart_SM00043,superfamily_Cystatin/monellin RFC4 5984 genome.wustl.edu 37 3 186522400 186522400 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002916.3 -1 reviewed p.A35T 0.009 228 0% 102 15.7% 27 51.8% benign(0.001) tolerated(0.57) neutral(0.006) NULL MASP1 5648 genome.wustl.edu 37 3 186943256 186943256 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001879.5 -1 reviewed p.L533F 0.908 514 0% 245 26.5% 0 - benign(0.001) tolerated(0.7) neutral(0.002) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases MASP1 5648 genome.wustl.edu 37 3 186953827 186953827 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_139125.3 -1 reviewed p.R611Q 0.994 110 0% 62 29% 0 - benign(0.031) tolerated(0.61) neutral(0.005) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys MASP1 5648 genome.wustl.edu 37 3 187003660 187003660 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_139125.3 -1 reviewed p.H64Y 1.000 387 0.3% 243 25.5% 1 0% possibly_damaging(0.767) tolerated(0.18) neutral(0.340) HMMPfam_CUB,HMMSmart_CUB,superfamily_CUB BCL6 604 genome.wustl.edu 37 3 187449517 187449517 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130845.1 -1 reviewed p.C121 1.000 239 0% 129 30.2% 14 14.2% - - - HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB BCL6 604 genome.wustl.edu 37 3 187449635 187449635 + Frame_Shift_Del DEL C C - novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130845.1 -1 reviewed p.G82fs 1.000 - - - - - - - - - HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB LPP 4026 genome.wustl.edu 37 3 188327333 188327333 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005578.3 +1 reviewed p.D272N 0.997 196 0% 154 31.2% 2 50% probably_damaging(0.953) tolerated(0.22) neutral(0.439) NULL LPP 4026 genome.wustl.edu 37 3 188327613 188327613 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005578.3 +1 reviewed p.A365V 0.011 256 0% 161 23% 1 0% benign(0.001) tolerated(0.22) neutral(0.042) NULL LPP 4026 genome.wustl.edu 37 3 188478014 188478014 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005578.3 +1 reviewed p.R452* 1.000 207 0% 152 28.3% 4 25% - - - HMMPfam_LIM,HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain) LPP 4026 genome.wustl.edu 37 3 188592251 188592251 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005578.3 +1 reviewed p.A608V 1.000 218 0% 104 27.9% 2 0% benign(0.018) tolerated(1) neutral(0.001) NULL TP63 8626 genome.wustl.edu 37 3 189612157 189612157 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003722.4 +1 reviewed p.R637C 1.000 133 0% 63 27% 0 - probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL LEPREL1 55214 genome.wustl.edu 37 3 189689792 189689792 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018192.3 -1 validated p.Q568 1.000 67 0% 43 41.9% 1 0% - - - HMMSmart_SM00702 CLDN1 9076 genome.wustl.edu 37 3 190039815 190039815 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021101.4 -1 validated p.Q61* 1.000 70 0% 36 25% 7 0% - - - HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN IL1RAP 3556 genome.wustl.edu 37 3 190366348 190366348 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002182.3 +1 reviewed p.V523I 1.000 292 0% 192 30.7% 5 0% benign(0.002) tolerated(0.28) neutral(0.032) HMMPfam_TIR,HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain FGF12 2257 genome.wustl.edu 37 3 191888255 191888255 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021032.3 -1 reviewed p.P202H 1.000 454 0% 334 28.4% 1 0% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMSmart_SM00442,superfamily_Cytokine FGF12 2257 genome.wustl.edu 37 3 191888349 191888349 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021032.3 -1 reviewed p.R171* 1.000 871 0.1% 622 25.4% 3 100% - - - HMMPfam_FGF,HMMSmart_SM00442,superfamily_Cytokine MB21D2 151963 genome.wustl.edu 37 3 192516786 192516786 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178496.3 -1 validated p.L289 1.000 110 0.9% 55 36.4% 1 100% - - - NULL ATP13A4 84239 genome.wustl.edu 37 3 193153474 193153474 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032279.2 -1 validated p.S911I 1.000 565 0% 280 29.6% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) superfamily_Calcium ATPase transmembrane domain M ATP13A4 84239 genome.wustl.edu 37 3 193183899 193183899 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032279.2 -1 validated p.R396M 1.000 703 0% 464 23.9% 1 100% probably_damaging(0.986) deleterious(0.01) deleterious(0.840) HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transmembrane domain M MUC4 4585 genome.wustl.edu 37 3 195515896 195515896 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018406.5 -1 reviewed p.A852V 0.000 69 0% 34 29.4% 0 - possibly_damaging(0.86) tolerated(0.19) neutral(0.382) NULL TFRC 7037 genome.wustl.edu 37 3 195779028 195779028 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001128148.1 -1 validated p.V690I 0.996 168 0% 70 31.4% 105 42.8% possibly_damaging(0.836) tolerated(0.11) deleterious(0.591) HMMPfam_TFR_dimer,superfamily_Transferrin receptor ectodomain C-terminal domain ENSG00000163959 0 genome.wustl.edu 37 3 195954531 195954531 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000428985 +1 known p.S108N 0.010 84 0% 36 30.6% 0 - - - - NULL TM4SF19 116211 genome.wustl.edu 37 3 196051286 196051286 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138461.2 -1 validated p.G102D 0.994 92 0% 47 21.3% 1 0% possibly_damaging(0.631) tolerated(0.05) deleterious(0.566) HMMPfam_L6_membrane UBXN7 26043 genome.wustl.edu 37 3 196083559 196083559 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015562.1 -1 validated p.N489K 1.000 493 0% 321 29.9% 11 27.2% probably_damaging(0.995) deleterious(0) deleterious(0.902) superfamily_Ubiquitin-like UBXN7 26043 genome.wustl.edu 37 3 196134172 196134172 + Missense_Mutation SNP C C T rs145707849 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015562.1 -1 validated p.A56T 1.000 278 0% 179 27.9% 7 14.2% benign(0.323) tolerated(0.1) neutral(0.387) NULL RNF168 165918 genome.wustl.edu 37 3 196215477 196215477 + Splice_Site SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152617.2 -1 provisional e2+1 1.000 106 0% 78 33.3% 0 - - - - - MFI2 4241 genome.wustl.edu 37 3 196735778 196735778 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005929.4 -1 reviewed p.P528 0.000 74 0% 30 13.3% 2 0% - - - HMMPfam_Transferrin,HMMSmart_SM00094,superfamily_Periplasmic binding protein-like II MFI2 4241 genome.wustl.edu 37 3 196737665 196737665 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005929.4 -1 reviewed p.A412T 1.000 33 0% 12 41.7% 1 0% benign(0.268) deleterious(0.02) neutral(0.412) HMMPfam_Transferrin,HMMSmart_SM00094,superfamily_Periplasmic binding protein-like II MFI2 4241 genome.wustl.edu 37 3 196751191 196751191 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005929.4 -1 reviewed p.G157V 1.000 27 0% 15 33.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Transferrin,HMMSmart_SM00094,superfamily_Periplasmic binding protein-like II KIAA0226 9711 genome.wustl.edu 37 3 197444856 197444856 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001145642.2 -1 validated p.R11C 1.000 306 0% 148 17.6% 2 0% benign(0.002) deleterious(0.04) neutral(0.349) NULL LRCH3 84859 genome.wustl.edu 37 3 197597144 197597144 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032773.2 +1 provisional p.R663C 0.990 311 0% 213 25.8% 15 73.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Calponin-homology LRCH3 84859 genome.wustl.edu 37 3 197598255 197598255 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000428136 +1 known p.R62W 0.783 443 0% 253 22.9% 23 47.8% - - - HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain IQCG 84223 genome.wustl.edu 37 3 197670736 197670736 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001134435.1 -1 validated p.S65 0.045 177 0% 121 32.2% 20 35% - - - NULL ZNF732 654254 genome.wustl.edu 37 4 265688 265688 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001137608.1 -1 provisional p.T320A 0.347 211 0% 145 13.1% 0 - benign(0.011) tolerated(0.93) neutral(0.001) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF48695 PIGG 54872 genome.wustl.edu 37 4 517562 517562 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001127178.1 +1 validated p.S643 0.000 67 0% 31 12.9% 40 7.5% - - - NULL PCGF3 10336 genome.wustl.edu 37 4 727506 727506 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006315.4 +1 reviewed p.A13T 1.000 63 0% 30 20% 61 26.2% benign(0.124) deleterious(0.01) neutral(0.416) superfamily_RING/U-box GAK 2580 genome.wustl.edu 37 4 860995 860995 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005255.2 -1 validated p.P874H 0.388 35 0% 21 28.6% 39 64.1% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL LETM1 3954 genome.wustl.edu 37 4 1821103 1821103 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012318.2 -1 reviewed p.L569M 1.000 134 0% 81 22.2% 42 54.7% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL WHSC1 7468 genome.wustl.edu 37 4 1957034 1957034 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001042424.2 +1 reviewed p.V829I 1.000 26 0% 15 40% 32 40.6% benign(0.253) tolerated(0.37) neutral(0.045) superfamily_FYVE/PHD zinc finger RNF4 6047 genome.wustl.edu 37 4 2514858 2514858 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002938.3 +1 reviewed p.E141D 1.000 700 0% 383 26.1% 83 48.1% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box FAM193A 8603 genome.wustl.edu 37 4 2648542 2648542 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003704.3 +1 validated p.A141T 1.000 107 0.9% 58 27.6% 9 22.2% probably_damaging(0.955) tolerated(0.32) neutral(0.423) NULL SH3BP2 6452 genome.wustl.edu 37 4 2834074 2834074 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001122681.1 +1 reviewed p.S475G 0.000 55 0% 27 18.5% 41 39% benign(0.085) tolerated(0.43) neutral(0.019) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain ADD1 118 genome.wustl.edu 37 4 2877761 2877761 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014189.2 +1 reviewed p.N40S 1.000 253 0% 160 26.3% 45 28.8% probably_damaging(0.955) tolerated(0.08) deleterious(0.699) NULL NOP14 8602 genome.wustl.edu 37 4 2958452 2958452 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003703.1 -1 validated p.K139N 0.947 92 1.1% 57 22.8% 49 57.1% benign(0.406) deleterious(0) deleterious(0.575) HMMPfam_Nop14 HTT 3064 genome.wustl.edu 37 4 3149794 3149794 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002111.6 +1 reviewed p.T1120A 0.000 143 0% 75 26.7% 12 33.3% benign(0) tolerated(0.31) neutral(0.027) NULL HTT 3064 genome.wustl.edu 37 4 3208605 3208605 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002111.6 +1 reviewed p.T1990 0.838 80 0% 45 17.8% 27 48.1% - - - NULL HGFAC 3083 genome.wustl.edu 37 4 3451115 3451115 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001528.2 +1 reviewed p.R646Q 0.067 21 0% 10 60% 0 - benign(0.266) tolerated(0.1) neutral(0.315) superfamily_Pept_Ser_Cys LYAR 55646 genome.wustl.edu 37 4 4275356 4275356 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001145725.1 -1 validated p.E291 0.000 234 0% 154 15.6% 30 20% - - - NULL LYAR 55646 genome.wustl.edu 37 4 4276205 4276205 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001145725.1 -1 validated p.A241T 0.003 630 0.2% 372 25.5% 31 58% probably_damaging(0.998) tolerated(0.59) deleterious(0.479) NULL LYAR 55646 genome.wustl.edu 37 4 4276463 4276463 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001145725.1 -1 validated p.L155I 0.000 334 0.3% 155 13.5% 51 15.6% benign(0.288) tolerated(0.19) neutral(0.138) NULL ZBTB49 166793 genome.wustl.edu 37 4 4303869 4303869 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145291.3 +1 validated p.Q102H 1.000 423 0% 294 24.1% 1 100% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB CYTL1 54360 genome.wustl.edu 37 4 5018597 5018597 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018659.2 -1 validated p.K98T 0.999 246 0% 145 17.9% 0 - possibly_damaging(0.497) tolerated(0.06) deleterious(0.489) NULL STK32B 55351 genome.wustl.edu 37 4 5418605 5418605 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018401.1 +1 provisional p.T169M 0.856 56 0% 37 21.6% 1 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase STK32B 55351 genome.wustl.edu 37 4 5448495 5448495 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018401.1 +1 provisional p.R220W 1.000 64 0% 34 44.1% 0 - probably_damaging(0.996) tolerated(0.18) deleterious(0.518) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase EVC2 132884 genome.wustl.edu 37 4 5564585 5564585 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_147127.4 -1 reviewed p.G1306D 0.024 378 0% 200 27% 8 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL EVC2 132884 genome.wustl.edu 37 4 5578050 5578050 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_147127.4 -1 reviewed p.E1063D 0.010 110 0% 66 37.9% 2 100% benign(0.003) tolerated(0.15) neutral(0.241) NULL EVC 2121 genome.wustl.edu 37 4 5735084 5735084 + Silent SNP C C T rs187457187 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153717.2 +1 reviewed p.D208 0.756 826 0.1% 444 30.6% 6 50% - - - NULL EVC 2121 genome.wustl.edu 37 4 5785374 5785374 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153717.2 +1 reviewed p.E553 0.121 464 0% 259 25.1% 4 25% - - - NULL EVC 2121 genome.wustl.edu 37 4 5809932 5809932 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153717.2 +1 reviewed p.L856M 0.002 43 0% 28 35.7% 1 100% probably_damaging(0.989) tolerated(0.21) deleterious(0.483) NULL CRMP1 1400 genome.wustl.edu 37 4 5857870 5857870 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001014809.1 -1 reviewed p.G274C 1.000 537 0% 259 26.3% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Amidohydro_1,superfamily_Metalo_hydrolase,superfamily_SSF51556 WFS1 7466 genome.wustl.edu 37 4 6296818 6296818 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006005.3 +1 reviewed p.A255T 0.993 43 0% 18 44.4% 43 48.8% benign(0.348) tolerated(0.14) neutral(0.359) NULL WFS1 7466 genome.wustl.edu 37 4 6302773 6302773 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006005.3 +1 reviewed p.F417 1.000 177 0% 73 34.2% 67 25.3% - - - NULL ACOX3 8310 genome.wustl.edu 37 4 8396361 8396361 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003501.2 -1 validated p.R389C 0.725 43 0% 16 50% 22 36.3% possibly_damaging(0.95) deleterious(0.05) deleterious(0.739) HMMPfam_Acyl-CoA_dh_1,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like CPZ 8532 genome.wustl.edu 37 4 8605853 8605853 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001014447.1 +1 reviewed p.S216I 1.000 16 0.000 7 0.571 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_M14,superfamily_Zn-dependent exopeptidases WDR1 9948 genome.wustl.edu 37 4 10083062 10083062 + Frame_Shift_Del DEL T T - novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017491.3 -1 reviewed p.G402fs 0.997 - - - - - - - - - superfamily_WD40 repeat-like ZNF518B 85460 genome.wustl.edu 37 4 10447479 10447479 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_053042.2 -1 validated p.E158D 0.252 317 0% 174 29.9% 10 70% probably_damaging(0.992) deleterious(0.02) deleterious(0.831) NULL RAB28 9364 genome.wustl.edu 37 4 13462440 13462440 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000510528 -1 known p.W6* 1.000 238 0% 200 30% 11 54.5% unknown(0) tolerated(0.2) - HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases BOD1L 259282 genome.wustl.edu 37 4 13578592 13578592 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_148894.2 -1 validated p.R2970C 1.000 232 0% 144 34.7% 21 57.1% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL BOD1L 259282 genome.wustl.edu 37 4 13593585 13593585 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_148894.2 -1 validated p.L2704I 0.124 40 0% 25 16% 8 12.5% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL BOD1L 259282 genome.wustl.edu 37 4 13600911 13600911 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_148894.2 -1 validated p.D2538G 0.000 178 0% 93 32.3% 10 10% possibly_damaging(0.718) tolerated(0.64) neutral(0.263) NULL BOD1L 259282 genome.wustl.edu 37 4 13604791 13604791 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_148894.2 -1 validated p.A1245T 0.000 191 0% 124 23.4% 9 77.7% benign(0.23) deleterious(0) neutral(0.468) superfamily_SSF81995 BOD1L 259282 genome.wustl.edu 37 4 13616105 13616105 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_148894.2 -1 validated p.H297Y 0.100 138 0% 76 23.7% 0 - benign(0.025) tolerated(0.08) neutral(0.301) superfamily_SSF81995 CC2D2A 57545 genome.wustl.edu 37 4 15581736 15581736 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080522.2 +1 reviewed p.P1306H 1.000 178 0% 95 29.5% 6 16.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FBXL5 26234 genome.wustl.edu 37 4 15614001 15614001 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012161.2 -1 reviewed p.E629D 1.000 166 0% 101 28.7% 58 39.6% probably_damaging(0.994) tolerated(0.06) deleterious(0.774) HMMSmart_SM00367,superfamily_RNI-like CLRN2 645104 genome.wustl.edu 37 4 17524663 17524663 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001079827.2 +1 reviewed p.A144T 0.998 130 0% 64 34.4% 0 - benign(0.3) deleterious(0.04) neutral(0.442) NULL CLRN2 645104 genome.wustl.edu 37 4 17528494 17528494 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001079827.2 +1 reviewed p.D163V 0.765 97 0% 43 30.2% 0 - benign(0.001) tolerated(0.1) neutral(0.286) NULL LAP3 51056 genome.wustl.edu 37 4 17585208 17585208 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015907.2 +1 validated p.E161V 1.000 162 0% 84 20.2% 72 22.2% benign(0.001) tolerated(0.3) neutral(0.029) HMMPfam_Peptidase_M17_N,superfamily_Macro domain-like LCORL 254251 genome.wustl.edu 37 4 17887691 17887691 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153686.7 -1 reviewed p.G259D 1.000 410 0% 352 25.6% 0 - probably_damaging(0.999) tolerated(0.17) deleterious(0.549) NULL LCORL 254251 genome.wustl.edu 37 4 17974509 17974509 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153686.7 -1 reviewed e2-1 1.000 49 0% 37 16.2% 0 - - - - - SLIT2 9353 genome.wustl.edu 37 4 20490577 20490577 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004787.1 +1 provisional p.E249D 1.000 241 0% 172 27.9% 0 - benign(0.004) tolerated(1) - HMMPfam_LRRCT,HMMSmart_SM00082,superfamily_L domain-like SLIT2 9353 genome.wustl.edu 37 4 20493401 20493401 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004787.1 +1 provisional p.A265T 1.000 258 0.4% 173 20.2% 1 100% benign(0) tolerated(0.09) neutral(0.296) superfamily_L domain-like PACRGL 133015 genome.wustl.edu 37 4 20714418 20714418 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145048.3 +1 validated p.R125I 1.000 644 0% 398 26.6% 13 0% benign(0.311) tolerated(0.64) neutral(0.100) HMMPfam_ParcG GPR125 166647 genome.wustl.edu 37 4 22389826 22389826 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145290.2 -1 validated p.A1156 0.000 298 0.7% 209 31.6% 43 32.5% - - - NULL GBA3 57733 genome.wustl.edu 37 4 22749583 22749583 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020973.3 +1 validated p.Q317 0.003 83 0% 59 20.3% 0 - - - - HMMPfam_Glyco_hydro_1,superfamily_(Trans)glycosidases DHX15 1665 genome.wustl.edu 37 4 24578097 24578097 + Silent SNP C C A rs6841898 byCluster;byFrequency;by2Hit2Allele;by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001358.2 -1 reviewed p.T92 0.996 261 0% 167 28.7% 135 48.1% - - - NULL SEPSECS 51091 genome.wustl.edu 37 4 25157662 25157662 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016955.3 -1 validated p.A103T 1.000 319 0% 192 28.6% 2 50% benign(0.07) deleterious(0.05) neutral(0.350) HMMPfam_SLA_LP_auto_ag,superfamily_PLP-dependent transferases SEPSECS 51091 genome.wustl.edu 37 4 25158481 25158481 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016955.3 -1 validated p.A50T 0.987 286 0% 153 15.7% 8 25% benign(0.006) tolerated(0.26) neutral(0.034) HMMPfam_SLA_LP_auto_ag,superfamily_PLP-dependent transferases,PatternScan_PEROXIDASE_1 PI4K2B 55300 genome.wustl.edu 37 4 25258202 25258202 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018323.3 +1 validated p.A221V 1.000 240 0% 177 30.5% 23 60.8% probably_damaging(0.999) tolerated(0.54) deleterious(0.498) HMMPfam_PI3_PI4_kinase PI4K2B 55300 genome.wustl.edu 37 4 25278649 25278649 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018323.3 +1 validated p.T429I 0.980 162 0% 96 28.1% 29 62% benign(0.045) deleterious(0.05) neutral(0.348) HMMPfam_PI3_PI4_kinase ANAPC4 29945 genome.wustl.edu 37 4 25384996 25384996 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013367.2 +1 reviewed p.E117K 1.000 202 0% 119 29.4% 24 50% possibly_damaging(0.891) tolerated(0.06) deleterious(0.673) NULL LOC100288962 100288962 genome.wustl.edu 37 4 25624565 25624565 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002342448.1 +1 model p.R88M 0.993 47 0% 29 17.2% 0 - - - - HMMSmart_SM00512,superfamily_POZ domain,HMMPfam_Skp1_POZ SLC34A2 10568 genome.wustl.edu 37 4 25678040 25678040 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006424.2 +1 reviewed p.R581H 0.000 163 0% 110 39.1% 34 26.4% benign(0.013) tolerated(0.18) neutral(0.057) NULL SLC34A2 10568 genome.wustl.edu 37 4 25678081 25678081 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006424.2 +1 reviewed p.L595M 0.000 167 0% 117 40.2% 30 33.3% possibly_damaging(0.609) tolerated(0.19) neutral(0.261) NULL SEL1L3 23231 genome.wustl.edu 37 4 25783928 25783928 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015187.3 -1 validated p.A798V 0.996 485 0% 311 29.3% 102 47% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Sel1,HMMSmart_SM00671,superfamily_HCP-like SEL1L3 23231 genome.wustl.edu 37 4 25849231 25849231 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015187.3 -1 validated p.T140A 1.000 376 0% 184 25.5% 50 38% benign(0.021) deleterious(0.02) neutral(0.384) NULL STIM2 57620 genome.wustl.edu 37 4 27000939 27000939 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020860.3 +1 reviewed p.L286V 0.020 183 0% 110 40.9% 3 33.3% benign(0.407) deleterious(0.01) deleterious(0.537) superfamily_SAM/Pointed domain,HMMPfam_SAM_2 STIM2 57620 genome.wustl.edu 37 4 27004726 27004726 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020860.3 +1 reviewed p.Q414 1.000 232 0% 140 18.6% 4 0% - - - NULL STIM2 57620 genome.wustl.edu 37 4 27019550 27019550 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020860.3 +1 reviewed p.A656 0.954 728 0% 398 30.4% 8 37.5% - - - NULL RELL1 768211 genome.wustl.edu 37 4 37636525 37636525 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001085399.1 -1 validated p.V222I 0.998 229 0% 112 28.6% 6 33.3% probably_damaging(0.999) tolerated(0.38) deleterious(0.508) NULL TBC1D1 23216 genome.wustl.edu 37 4 38097692 38097692 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015173.2 +1 validated p.M793I 0.998 352 0% 199 29.1% 30 50% benign(0) tolerated(0.33) neutral(0.024) superfamily_Ypt/Rab-GAP domain of gyp1p TLR10 81793 genome.wustl.edu 37 4 38775961 38775961 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001017388.1 -1 reviewed p.C417* 0.942 285 0% 203 26.1% 0 - - - - superfamily_SSF52058 FAM114A1 92689 genome.wustl.edu 37 4 38910245 38910245 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138389.2 +1 validated p.A230 0.685 242 0% 161 32.9% 16 56.2% - - - HMMPfam_DUF719 WDR19 57728 genome.wustl.edu 37 4 39196163 39196163 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025132.3 +1 reviewed e5-1 1.000 54 0% 39 23.1% 0 - - - - - RFC1 5981 genome.wustl.edu 37 4 39306484 39306484 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002913.3 -1 reviewed p.A687V 0.997 1252 0% 838 27% 23 82.6% benign(0.067) deleterious(0.01) neutral(0.410) HMMSmart_AAA,HMMPfam_AAA,superfamily_SSF52540 KLB 152831 genome.wustl.edu 37 4 39450125 39450125 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175737.3 +1 validated p.C985Y 0.999 280 0.4% 158 27.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Glyco_hydro_cat UGDH 7358 genome.wustl.edu 37 4 39523094 39523094 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003359.3 -1 reviewed p.G13 0.997 148 0.7% 103 28.2% 253 42.6% - - - HMMPfam_UDPG_MGDP_dh_N,superfamily_NAD(P)-bd PDS5A 23244 genome.wustl.edu 37 4 39875970 39875970 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001100399.1 -1 reviewed p.A739D 1.000 317 0% 215 29.8% 75 57.3% probably_damaging(0.969) deleterious(0) deleterious(0.856) superfamily_ARM repeat PDS5A 23244 genome.wustl.edu 37 4 39910114 39910114 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001100399.1 -1 reviewed p.H378 1.000 399 0% 265 30.6% 49 63.2% - - - superfamily_ARM repeat N4BP2 55728 genome.wustl.edu 37 4 40133540 40133540 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018177.3 +1 reviewed e11+1 1.000 229 0% 155 29.7% 1 100% - - - - RBM47 54502 genome.wustl.edu 37 4 40428047 40428047 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098634.1 -1 validated p.I552 0.993 73 0% 33 24.2% 46 39.1% - - - NULL RBM47 54502 genome.wustl.edu 37 4 40440169 40440169 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098634.1 -1 validated p.L248I 1.000 163 0% 56 21.4% 64 39% probably_damaging(0.965) tolerated(0.09) deleterious(0.704) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD APBB2 323 genome.wustl.edu 37 4 40823918 40823918 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000513611 -1 known p.R663C 0.839 80 0% 44 25% 7 42.8% - - - HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like LIMCH1 22998 genome.wustl.edu 37 4 41687796 41687796 + Missense_Mutation SNP C C T rs191390776 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014988.2 +1 validated p.P962L 0.825 392 0% 285 27.7% 8 37.5% benign(0) deleterious(0) neutral(0.445) NULL DCAF4L1 285429 genome.wustl.edu 37 4 41984540 41984540 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001029955.3 +1 validated p.R244H 0.996 157 0% 71 36.6% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40 repeat-like ATP8A1 10396 genome.wustl.edu 37 4 42571222 42571222 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006095.2 -1 reviewed p.G432 1.000 182 0% 105 31.4% 0 - - - - HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N YIPF7 285525 genome.wustl.edu 37 4 44631521 44631521 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182592.2 -1 validated p.V133L 0.999 68 0% 44 25% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Yip1 GNPDA2 132789 genome.wustl.edu 37 4 44709856 44709856 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138335.1 -1 provisional p.A228T 1.000 155 0% 101 28.7% 49 44.8% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) HMMPfam_Glucosamine_iso,superfamily_NagB/RpiA/CoA transferase-like GNPDA2 132789 genome.wustl.edu 37 4 44713010 44713010 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138335.1 -1 provisional p.A185D 1.000 354 0% 252 15.1% 31 22.5% probably_damaging(0.962) deleterious(0) deleterious(0.850) HMMPfam_Glucosamine_iso,superfamily_NagB/RpiA/CoA transferase-like GABRG1 2565 genome.wustl.edu 37 4 46099217 46099217 + Splice_Site SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173536.3 -1 reviewed e2+1 1.000 469 0% 444 29.5% 0 - - - - - ATP10D 57205 genome.wustl.edu 37 4 47548743 47548743 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020453.3 +1 validated p.S500I 0.984 632 0% 379 14.5% 2 0% probably_damaging(0.967) tolerated(0.07) deleterious(0.728) superfamily_HAD-like ATP10D 57205 genome.wustl.edu 37 4 47559754 47559754 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020453.3 +1 validated p.S633Y 0.997 149 0% 86 29.1% 3 66.6% possibly_damaging(0.903) deleterious(0.01) deleterious(0.764) superfamily_HAD-like CORIN 10699 genome.wustl.edu 37 4 47645274 47645274 + Splice_Site SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006587.2 -1 reviewed e15-1 1.000 267 0% 169 30.8% 0 - - - - - CORIN 10699 genome.wustl.edu 37 4 47647110 47647110 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006587.2 -1 reviewed p.E649K 1.000 282 0% 167 28.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00192,superfamily_LDL receptor-like module NFXL1 152518 genome.wustl.edu 37 4 47877211 47877211 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152995.4 -1 validated p.P727T 1.000 175 0% 106 12.3% 21 19% probably_damaging(0.992) tolerated(0.21) deleterious(0.491) HMMPfam_zf-NF-X1,HMMSmart_SM00438 NFXL1 152518 genome.wustl.edu 37 4 47887537 47887537 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152995.4 -1 validated p.A601V 1.000 360 0% 265 30.2% 12 58.3% benign(0.001) tolerated(1) - HMMPfam_zf-NF-X1,HMMSmart_SM00438 CNGA1 1259 genome.wustl.edu 37 4 47939690 47939690 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142564.1 -1 reviewed p.R343M 0.977 435 0.2% 273 24.9% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels TXK 7294 genome.wustl.edu 37 4 48088527 48088527 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003328.2 -1 validated p.G304 0.997 253 0% 165 29.7% 0 - - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like FRYL 285527 genome.wustl.edu 37 4 48548100 48548100 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015030.1 -1 validated p.E1755* 1.000 84 0% 45 26.7% 7 14.2% - - - NULL FRYL 285527 genome.wustl.edu 37 4 48583536 48583536 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015030.1 -1 validated p.A691 0.014 123 0% 61 19.7% 4 25% - - - superfamily_ARM repeat FRYL 285527 genome.wustl.edu 37 4 48597998 48597998 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015030.1 -1 validated p.S352Y 1.000 162 0% 94 13.8% 8 0% probably_damaging(0.961) deleterious(0.01) deleterious(0.810) superfamily_ARM repeat LRRC66 339977 genome.wustl.edu 37 4 52860859 52860859 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001024611.1 -1 provisional p.L777I 0.001 282 0% 205 29.8% 9 77.7% probably_damaging(0.955) deleterious(0) deleterious(0.843) NULL LRRC66 339977 genome.wustl.edu 37 4 52862198 52862198 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001024611.1 -1 provisional p.T330 0.000 83 0% 69 21.7% 2 50% - - - NULL USP46 64854 genome.wustl.edu 37 4 53468126 53468126 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022832.3 -1 validated p.R273C 1.000 210 0% 129 33.3% 14 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UCH,superfamily_Cysteine proteinases SCFD2 152579 genome.wustl.edu 37 4 53773679 53773679 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152540.3 -1 validated p.H596R 1.000 280 0% 191 25.7% 21 61.9% possibly_damaging(0.81) tolerated(0.06) deleterious(0.627) superfamily_Sec1/munc18-like (SM) proteins FIP1L1 81608 genome.wustl.edu 37 4 54319284 54319284 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030917.3 +1 reviewed p.P495S 0.767 293 0% 249 24.5% 71 42.2% benign(0.002) tolerated(0.32) neutral(0.024) NULL LNX1 84708 genome.wustl.edu 37 4 54373483 54373483 + Splice_Site SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001126328.1 -1 reviewed e3+1 1.000 310 0% 162 29.6% 0 - - - - - LNX1 84708 genome.wustl.edu 37 4 54374384 54374384 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001126328.1 -1 reviewed p.A131T 1.000 117 0% 47 14.9% 5 0% probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL CHIC2 26511 genome.wustl.edu 37 4 54915202 54915202 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012110.2 -1 reviewed p.R84C 0.998 129 0% 88 21.6% 25 44% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Erf4 PDGFRA 5156 genome.wustl.edu 37 4 55129833 55129833 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006206.4 +1 reviewed e3-1 1.000 283 0% 162 24.1% 0 - - - - - PDGFRA 5156 genome.wustl.edu 37 4 55152012 55152012 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006206.4 +1 reviewed p.V815A 0.993 215 0% 130 29.2% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like) PDGFRA 5156 genome.wustl.edu 37 4 55156679 55156679 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006206.4 +1 reviewed p.P1027H 0.000 200 0% 133 29.3% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KDR 3791 genome.wustl.edu 37 4 55973917 55973917 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002253.2 -1 reviewed p.A467T 0.137 337 0.3% 277 32.9% 6 0% benign(0) tolerated(0.62) neutral(0.004) HMMSmart_IG,superfamily_SSF48726 KDR 3791 genome.wustl.edu 37 4 55974054 55974054 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002253.2 -1 reviewed p.P421L 1.000 384 0% 296 15.5% 5 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_SSF48726 EXOC1 55763 genome.wustl.edu 37 4 56734645 56734645 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001024924.1 +1 reviewed p.A187T 1.000 163 0% 97 22.7% 14 28.5% benign(0.091) tolerated(0.38) neutral(0.024) HMMPfam_Sec3 CEP135 9662 genome.wustl.edu 37 4 56883864 56883864 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025009.3 +1 validated p.K951 0.964 146 0% 106 23.6% 6 33.3% - - - superfamily_Prefoldin PPAT 5471 genome.wustl.edu 37 4 57269567 57269567 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002703.3 -1 reviewed p.L135I 1.000 127 0% 72 27.8% 22 54.5% benign(0.244) tolerated(0.11) neutral(0.296) HMMPfam_GATase_2,superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) SRP72 6731 genome.wustl.edu 37 4 57342839 57342839 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006947.3 +1 validated p.L205I 1.000 138 0% 85 24.7% 96 41.6% possibly_damaging(0.848) tolerated(0.29) neutral(0.355) HMMPfam_TPR_1,superfamily_SSF48452 ARL9 132946 genome.wustl.edu 37 4 57377433 57377433 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000360096 +1 known p.V43G 1.000 197 0% 113 33.6% 14 85.7% benign(0.001) tolerated(0.34) neutral(0.023) HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases NOA1 84273 genome.wustl.edu 37 4 57832876 57832876 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032313.2 -1 provisional p.V558 0.953 228 0% 137 32.1% 90 45.5% - - - NULL POLR2B 5431 genome.wustl.edu 37 4 57873168 57873168 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000938.1 +1 reviewed p.Q468H 1.000 194 0% 130 16.2% 46 21.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_RNA_pol_Rpb2_3,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase LPHN3 23284 genome.wustl.edu 37 4 62453016 62453016 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015236.4 +1 reviewed p.L43I 1.000 88 0% 58 31% 0 - probably_damaging(0.995) tolerated(0.23) deleterious(0.499) HMMPfam_Gal_Lectin LPHN3 23284 genome.wustl.edu 37 4 62598610 62598610 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015236.4 +1 reviewed p.R178I 1.000 115 0% 64 29.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_OLF,HMMSmart_SM00284 LPHN3 23284 genome.wustl.edu 37 4 62778452 62778452 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015236.4 +1 reviewed p.R629C 1.000 133 0% 110 32.7% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_Family A G protein-coupled receptor-like LPHN3 23284 genome.wustl.edu 37 4 62849146 62849146 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015236.4 +1 reviewed p.A953T 1.000 186 0% 115 28.7% 0 - possibly_damaging(0.948) deleterious(0.03) deleterious(0.756) HMMPfam_7tm_2,superfamily_Family A G protein-coupled receptor-like LOC644578 644578 genome.wustl.edu 37 4 64216346 64216346 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_927694.2 +1 model p.R227C 0.003 119 0% 62 9.7% 0 - - - - "HMMPfam_La,HMMSmart_SM00715,superfamily_""Winged helix"" DNA-binding domain" EPHA5 2044 genome.wustl.edu 37 4 66197714 66197714 + Silent SNP G G A rs188116759 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004439.5 -1 reviewed p.D995 1.000 330 0.3% 245 26.5% 0 - - - - HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain EPHA5 2044 genome.wustl.edu 37 4 66201844 66201844 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004439.5 -1 reviewed e16-1 1.000 152 0% 123 19.5% 0 - - - - - CENPC1 1060 genome.wustl.edu 37 4 68355694 68355694 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001812.2 -1 reviewed p.Q887H 0.047 54 0% 35 37.1% 11 45.4% possibly_damaging(0.442) deleterious(0.05) deleterious(0.490) superfamily_RmlC-like cupins,HMMPfam_Cupin_2 CENPC1 1060 genome.wustl.edu 37 4 68359661 68359661 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001812.2 -1 reviewed p.R744H 0.998 70 0% 41 17.1% 16 25% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL CENPC1 1060 genome.wustl.edu 37 4 68406716 68406716 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001812.2 -1 reviewed p.D40Y 1.000 116 0% 60 18.3% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL UBA6 55236 genome.wustl.edu 37 4 68500236 68500236 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018227.5 -1 validated p.R615W 1.000 169 0% 91 29.7% 12 91.6% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_Activating enzymes of the ubiquitin-like proteins,HMMPfam_UBA_e1_thiolCys TMPRSS11D 9407 genome.wustl.edu 37 4 68719897 68719897 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004262.2 -1 reviewed p.K46N 0.006 235 0% 162 27.8% 0 - probably_damaging(0.957) deleterious(0.03) deleterious(0.765) HMMPfam_SEA,HMMSmart_SEA,superfamily_SSF82671 TMPRSS11B 132724 genome.wustl.edu 37 4 69097079 69097079 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182502.3 -1 validated p.A176 0.275 206 0% 145 33.1% 0 - - - - superfamily_Trypsin-like serine proteases TMPRSS11B 132724 genome.wustl.edu 37 4 69107443 69107443 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182502.3 -1 validated p.V30I 0.781 184 0% 170 27.1% 0 - benign(0.137) tolerated(0.3) neutral(0.040) NULL YTHDC1 91746 genome.wustl.edu 37 4 69188545 69188545 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001031732.2 -1 validated p.R508H 1.000 214 0% 107 25.2% 65 40% unknown(0) deleterious(0) - NULL UGT2B17 7367 genome.wustl.edu 37 4 69403406 69403406 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001077.3 -1 reviewed p.T510 0.001 295 0% 211 61.6% 0 - - - - HMMPfam_UDPGT UGT2B10 7365 genome.wustl.edu 37 4 69696346 69696346 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001075.4 +1 validated p.R446G 0.267 539 0% 467 26.3% 0 - benign(0.024) tolerated(0.06) neutral(0.324) HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2A3 79799 genome.wustl.edu 37 4 69798414 69798414 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024743.3 -1 validated p.L310M 0.001 609 0% 520 34.2% 0 - benign(0) tolerated(1) - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase UGT2B28 54490 genome.wustl.edu 37 4 70288699 70288699 + Missense_Mutation SNP C C T rs182367316 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000381079 +1 known p.R469C 1.000 600 0% 418 28% 0 - - - - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase SULT1B1 27284 genome.wustl.edu 37 4 70599908 70599908 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014465.3 -1 reviewed p.Q150 0.000 202 0% 85 24.7% 0 - - - - HMMPfam_Sulfotransfer_1,superfamily_SSF52540 STATH 6779 genome.wustl.edu 37 4 70866591 70866591 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003154.2 +1 validated p.G38 0.000 392 0.5% 242 25.2% 0 - - - - HMMPfam_Statherin MUC7 4589 genome.wustl.edu 37 4 71346667 71346667 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001145006.1 +1 reviewed p.R69H 0.000 940 0% 638 30.1% 2 0% unknown(0) tolerated(0.17) - NULL AMBN 258 genome.wustl.edu 37 4 71472041 71472041 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016519.4 +1 reviewed p.T313I 0.935 111 0% 102 27.5% 0 - probably_damaging(0.998) tolerated(0.14) deleterious(0.724) HMMPfam_Amelin,HMMSmart_SM00817 ENAM 10117 genome.wustl.edu 37 4 71507731 71507731 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031889.2 +1 reviewed e8-1 1.000 988 0.1% 691 12.2% 0 - - - - - UTP3 57050 genome.wustl.edu 37 4 71554547 71554547 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020368.2 +1 validated p.F51 0.974 74 1.4% 41 43.9% 33 51.5% - - - NULL NPFFR2 10886 genome.wustl.edu 37 4 73013255 73013255 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004885.2 +1 reviewed p.P432H 1.000 323 0% 223 29.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ANKRD17 26057 genome.wustl.edu 37 4 74124225 74124225 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032217.3 -1 reviewed p.M54T 1.000 8 0.000 9 0.444 4 75% unknown(0) deleterious(0) - NULL AFP 174 genome.wustl.edu 37 4 74309119 74309119 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001134.1 +1 reviewed p.C224Y 0.877 259 0% 152 16.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Serum_albumin,HMMPfam_Serum_albumin,HMMSmart_ALBUMIN AFM 173 genome.wustl.edu 37 4 74350011 74350011 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001133.2 +1 reviewed p.A58 0.721 268 0% 191 25.7% 0 - - - - superfamily_Serum albumin-like,HMMPfam_Serum_albumin,HMMSmart_SM00103 AFM 173 genome.wustl.edu 37 4 74357675 74357675 + Silent SNP C C T rs141880946 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001133.2 +1 reviewed p.R310 0.000 239 0% 184 19% 0 - - - - superfamily_Serum albumin-like,HMMPfam_Serum_albumin,HMMSmart_SM00103 PPBPL1 728045 genome.wustl.edu 37 4 74713622 74713622 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000424295 +1 known p.A14T 0.000 78 0% 38 18.4% 0 - - - - NULL PF4V1 5197 genome.wustl.edu 37 4 74719141 74719141 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002620.2 +1 provisional p.A21V 0.126 22 0% 16 31.2% 2 0% unknown(0) tolerated(0.16) - NULL ENSG00000245879 0 genome.wustl.edu 37 4 74964265 74964265 + RNA SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000500608 +1 known NULL 0.000 63 0% 22 31.8% 0 - - - - - BTC 685 genome.wustl.edu 37 4 75681166 75681166 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001729.2 -1 reviewed p.R62W 0.003 318 0.3% 181 30.9% 3 0% benign(0.037) tolerated(0.2) neutral(0.051) superfamily_SSF57196 CXCL10 3627 genome.wustl.edu 37 4 76944563 76944563 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001565.2 -1 reviewed p.I8V 0.004 335 0.3% 204 28.9% 35 2.8% benign(0.001) tolerated(0.51) neutral(0.009) NULL NUP54 53371 genome.wustl.edu 37 4 77038816 77038816 + Splice_Site SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017426.2 -1 reviewed e11+1 1.000 186 0% 124 15.3% 0 - - - - - NUP54 53371 genome.wustl.edu 37 4 77039333 77039333 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017426.2 -1 reviewed p.Q393H 1.000 166 0% 116 25.9% 47 44.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SCARB2 950 genome.wustl.edu 37 4 77100695 77100695 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005506.2 -1 reviewed p.S196Y 0.244 332 0% 206 26.2% 139 38.1% possibly_damaging(0.95) deleterious(0.05) deleterious(0.739) HMMPfam_CD36 CCDC158 339965 genome.wustl.edu 37 4 77247111 77247111 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001042784.1 -1 validated p.S1019Y 1.000 408 0.5% 236 28.8% 0 - possibly_damaging(0.805) deleterious(0) deleterious(0.748) NULL CCDC158 339965 genome.wustl.edu 37 4 77272228 77272228 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001042784.1 -1 validated p.R862H 0.998 749 0% 418 14.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CCDC158 339965 genome.wustl.edu 37 4 77292626 77292626 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001042784.1 -1 validated p.R365C 0.998 161 0% 116 33.6% 0 - probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL SEPT11 55752 genome.wustl.edu 37 4 77933061 77933061 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018243.2 +1 validated p.K171R 1.000 384 0.3% 201 18.4% 32 18.7% benign(0.027) tolerated(0.53) neutral(0.009) HMMPfam_Septin,superfamily_SSF52540 FRAS1 80144 genome.wustl.edu 37 4 79188452 79188452 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025074.6 +1 reviewed p.G283R 0.995 90 0% 45 33.3% 1 0% benign(0.229) tolerated(0.3) neutral(0.052) NULL FRAS1 80144 genome.wustl.edu 37 4 79385669 79385669 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025074.6 +1 reviewed p.R2320W 1.000 331 0% 213 27.2% 14 57.1% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL BMP2K 55589 genome.wustl.edu 37 4 79786755 79786755 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198892.1 +1 reviewed p.R371K 1.000 297 0% 195 22.1% 12 25% probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL GK2 2712 genome.wustl.edu 37 4 80328414 80328414 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033214.2 -1 validated p.A314V 0.004 599 0% 428 29.2% 0 - benign(0) tolerated(1) - HMMPfam_FGGY_C,superfamily_SSF53067 ANTXR2 118429 genome.wustl.edu 37 4 80899267 80899267 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001145794.1 -1 reviewed p.A414D 1.000 170 0% 95 37.9% 16 37.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Ant_C C4orf22 255119 genome.wustl.edu 37 4 81256979 81256979 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152770.1 +1 predicted p.A19 1.000 160 0% 100 17% 0 - - - - NULL PRKG2 5593 genome.wustl.edu 37 4 82092923 82092923 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006259.1 -1 provisional p.L222 0.998 295 0% 191 24.1% 0 - - - - HMMPfam_cNMP_binding,HMMSmart_cNMP,superfamily_cNMP_binding RASGEF1B 153020 genome.wustl.edu 37 4 82366991 82366991 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152545.1 -1 provisional p.S244N 0.997 133 0% 84 31% 13 23% benign(0) tolerated(0.39) neutral(0.016) HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF WDFY3 23001 genome.wustl.edu 37 4 85617182 85617182 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014991.4 -1 reviewed p.P2948T 1.000 277 0% 187 10.7% 15 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Beach,superfamily_BEACH domain,superfamily_WD40 repeat-like WDFY3 23001 genome.wustl.edu 37 4 85645693 85645693 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014991.4 -1 reviewed p.R2443* 1.000 281 0% 157 12.7% 6 33.3% - - - NULL WDFY3 23001 genome.wustl.edu 37 4 85674932 85674932 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014991.4 -1 reviewed p.A1886V 0.851 158 0% 116 16.4% 8 50% benign(0) tolerated(1) - NULL WDFY3 23001 genome.wustl.edu 37 4 85687154 85687154 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014991.4 -1 reviewed p.L1666P 1.000 532 0% 323 20.1% 6 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL WDFY3 23001 genome.wustl.edu 37 4 85717840 85717840 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014991.4 -1 reviewed p.H1001Y 1.000 304 0% 195 12.3% 2 50% benign(0.031) tolerated(0.28) neutral(0.033) NULL WDFY3 23001 genome.wustl.edu 37 4 85731098 85731098 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014991.4 -1 reviewed p.R763W 0.967 358 0% 252 29.8% 4 75% possibly_damaging(0.906) deleterious(0.02) deleterious(0.742) superfamily_ARM repeat WDFY3 23001 genome.wustl.edu 37 4 85731102 85731102 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014991.4 -1 reviewed p.T761 0.020 370 0% 252 36.9% 4 25% - - - superfamily_ARM repeat ARHGAP24 83478 genome.wustl.edu 37 4 86921811 86921811 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001025616.2 +1 validated p.T728M 1.000 468 0.2% 298 13.1% 10 30% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PTPN13 5783 genome.wustl.edu 37 4 87622954 87622954 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080685.2 +1 reviewed p.E399* 1.000 390 0.3% 202 27.7% 0 - - - - NULL PTPN13 5783 genome.wustl.edu 37 4 87686580 87686580 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080685.2 +1 reviewed p.G1399 1.000 37 0% 40 17.5% 0 - - - - HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ PTPN13 5783 genome.wustl.edu 37 4 87686641 87686641 + Missense_Mutation SNP G G T rs147245492 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080685.2 +1 reviewed p.G1420C 1.000 36 0% 34 32.4% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ AFF1 4299 genome.wustl.edu 37 4 88056766 88056766 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005935.2 +1 validated p.T1182 0.185 50 0% 29 48.3% 27 33.3% - - - HMMPfam_AF-4 KLHL8 57563 genome.wustl.edu 37 4 88085167 88085167 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020803.3 -1 validated p.W534* 1.000 450 0% 220 29.5% 11 18.1% - - - HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain KLHL8 57563 genome.wustl.edu 37 4 88091266 88091266 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020803.3 -1 validated p.G501V 1.000 572 0.2% 326 28.2% 9 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain SPARCL1 8404 genome.wustl.edu 37 4 88415091 88415091 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001128310.1 -1 validated p.H287 0.047 964 0% 640 26.4% 75 0% - - - NULL DSPP 1834 genome.wustl.edu 37 4 88533267 88533267 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014208.3 +1 reviewed p.S21I 0.003 96 0% 44 18.2% 0 - benign(0.014) - - NULL MEPE 56955 genome.wustl.edu 37 4 88766306 88766306 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020203.3 +1 validated p.L96M 0.000 291 0% 179 27.4% 0 - benign(0.076) tolerated(0.27) neutral(0.039) HMMPfam_Osteoregulin SPP1 6696 genome.wustl.edu 37 4 88903928 88903928 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001040058.1 +1 validated p.S275 0.860 265 0% 142 22.5% 158 20.2% - - - HMMPfam_Osteopontin,HMMSmart_SM00017 ABCG2 9429 genome.wustl.edu 37 4 89022413 89022413 + Frame_Shift_Del DEL C C - novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004827.2 -1 reviewed p.E446fs 1.000 - - - - - - - - - HMMPfam_ABC2_membrane HERC6 55008 genome.wustl.edu 37 4 89311945 89311945 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017912.3 +1 validated p.S193I 1.000 72 0% 29 27.6% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_RCC1,superfamily_RCC1/BLIP-II HERC6 55008 genome.wustl.edu 37 4 89319361 89319361 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017912.3 +1 validated p.Q364H 0.948 39 0% 21 38.1% 13 0% possibly_damaging(0.673) tolerated(0.14) deleterious(0.488) superfamily_RCC1/BLIP-II HERC3 8916 genome.wustl.edu 37 4 89527012 89527012 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014606.1 +1 provisional p.G13V 1.000 237 0% 135 34.8% 8 25% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_RCC1/BLIP-II NAP1L5 266812 genome.wustl.edu 37 4 89618474 89618474 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153757.2 -1 validated p.Y144 0.023 93 0% 79 27.8% 0 - - - - HMMPfam_NAP FAM13A 10144 genome.wustl.edu 37 4 89660210 89660210 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014883.2 -1 validated p.L845I 1.000 98 0% 72 29.2% 10 40% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL FAM13A 10144 genome.wustl.edu 37 4 89708998 89708998 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014883.2 -1 validated p.E393* 0.998 308 0% 220 26.8% 11 27.2% - - - NULL TIGD2 166815 genome.wustl.edu 37 4 90035291 90035291 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145715.2 +1 reviewed p.F389S 0.996 172 0% 81 22.2% 13 53.8% probably_damaging(0.962) deleterious(0.03) deleterious(0.770) NULL GPRIN3 285513 genome.wustl.edu 37 4 90170991 90170991 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198281.2 -1 validated p.P91S 0.000 166 0% 108 27.8% 0 - benign(0) tolerated(1) - NULL SMARCAD1 56916 genome.wustl.edu 37 4 95147397 95147397 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001128429.1 +1 validated p.C106* 0.996 352 0.3% 265 22.6% 8 0% - - - NULL SMARCAD1 56916 genome.wustl.edu 37 4 95198216 95198216 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001128429.1 +1 validated p.N663T 1.000 368 0.3% 228 22.8% 13 69.2% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases UNC5C 8633 genome.wustl.edu 37 4 96140241 96140241 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003728.2 -1 reviewed p.S508 0.529 316 0% 194 17% 0 - - - - NULL UNC5C 8633 genome.wustl.edu 37 4 96141271 96141271 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003728.2 -1 reviewed p.V389I 0.987 204 0% 125 22.4% 0 - benign(0.007) tolerated(0.19) neutral(0.050) NULL UNC5C 8633 genome.wustl.edu 37 4 96163628 96163628 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003728.2 -1 reviewed p.G354S 1.000 80 0% 32 21.9% 0 - possibly_damaging(0.468) deleterious(0) deleterious(0.598) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat ADH6 130 genome.wustl.edu 37 4 100125395 100125395 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001102470.1 -1 reviewed p.R370H 0.993 229 0% 170 29.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_GroES_like ADH1B 125 genome.wustl.edu 37 4 100242479 100242479 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000668.4 -1 reviewed p.A4T 0.995 313 0% 252 22.6% 0 - unknown(0) - - superfamily_GroES-like MTTP 4547 genome.wustl.edu 37 4 100532502 100532502 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000253.2 +1 reviewed p.S627 0.000 506 0.2% 397 29% 0 - - - - NULL DNAJB14 79982 genome.wustl.edu 37 4 100844197 100844197 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001031723.2 -1 validated p.K151Q 1.000 61 0% 37 10.8% 13 0% probably_damaging(0.956) deleterious(0.01) deleterious(0.805) HMMPfam_DnaJ,HMMSmart_SM00271,superfamily_Chaperone J-domain,PatternScan_DNAJ_1 SLC9B1 150159 genome.wustl.edu 37 4 103870528 103870528 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_139173.2 -1 reviewed p.L90I 0.765 532 0.2% 367 24.8% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL CENPE 1062 genome.wustl.edu 37 4 104098174 104098174 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001813.2 -1 validated p.C424 0.004 239 0% 148 29.7% 3 33.3% - - - NULL CENPE 1062 genome.wustl.edu 37 4 104116319 104116319 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001813.2 -1 validated p.L143 0.903 399 0.3% 240 25% 3 0% - - - HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases TACR3 6870 genome.wustl.edu 37 4 104510853 104510853 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001059.1 -1 reviewed p.D462Y 1.000 383 0% 246 28.9% 0 - possibly_damaging(0.737) deleterious(0) deleterious(0.714) NULL TET2 54790 genome.wustl.edu 37 4 106156731 106156731 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001127208.1 +1 validated p.R544 0.000 434 0% 280 28.2% 6 16.6% - - - NULL TET2 54790 genome.wustl.edu 37 4 106156840 106156840 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001127208.1 +1 validated p.R581C 0.009 451 0% 293 25.9% 7 42.8% benign(0.001) tolerated(0.16) neutral(0.059) NULL GSTCD 79807 genome.wustl.edu 37 4 106640438 106640438 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001031720.2 +1 validated p.K216N 0.000 402 0% 286 34.6% 8 50% benign(0.156) deleterious(0.05) neutral(0.359) superfamily_Glutathione S-transferase (GST) C-terminal domain PAPSS1 9061 genome.wustl.edu 37 4 108574725 108574725 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005443.4 -1 validated p.V387F 1.000 254 0% 210 35.2% 39 38.4% benign(0.078) deleterious(0.02) neutral(0.389) HMMPfam_ATP-sulfurylase,superfamily_PUA domain-like SGMS2 166929 genome.wustl.edu 37 4 108831617 108831617 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001136257.1 +1 reviewed p.P336S 1.000 102 0% 125 33.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL HADH 3033 genome.wustl.edu 37 4 108940740 108940740 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005327.4 +1 reviewed p.S155I 0.433 519 0% 349 20.9% 175 44.5% benign(0.12) deleterious(0.01) neutral(0.415) HMMPfam_3HCDH_N,superfamily_NAD(P)-binding Rossmann-fold domains AGXT2L1 64850 genome.wustl.edu 37 4 109664978 109664978 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031279.3 -1 validated p.S446 0.002 182 0% 106 11.3% 0 - - - - NULL AGXT2L1 64850 genome.wustl.edu 37 4 109667594 109667594 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031279.3 -1 validated p.A422T 1.000 94 0% 55 23.6% 0 - possibly_damaging(0.872) deleterious(0.01) deleterious(0.745) superfamily_PLP-dependent transferases SEC24B 10427 genome.wustl.edu 37 4 110412520 110412520 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006323.2 +1 reviewed p.P401 0.092 288 0% 180 18.3% 37 51.3% - - - NULL PLA2G12A 81579 genome.wustl.edu 37 4 110635604 110635604 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030821.4 -1 validated p.G167C 1.000 522 0% 326 30.1% 42 45.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PLA2G12,superfamily_Phospholipase A2 PLA2 EGF 1950 genome.wustl.edu 37 4 110890269 110890269 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001963.4 +1 reviewed p.D573G 1.000 265 0% 141 33.3% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825 PITX2 5308 genome.wustl.edu 37 4 111539729 111539729 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000325.5 -1 reviewed p.D176V 1.000 173 0.6% 90 35.6% 0 - possibly_damaging(0.804) deleterious(0) deleterious(0.747) NULL AP1AR 55435 genome.wustl.edu 37 4 113189561 113189561 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018569.4 +1 validated p.R302Q 1.000 145 0% 90 33.3% 18 44.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ALPK1 80216 genome.wustl.edu 37 4 113352323 113352323 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001102406.1 +1 validated p.T540 0.000 337 0% 243 30.9% 4 0% - - - NULL LARP7 51574 genome.wustl.edu 37 4 113575287 113575287 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015454.1 +1 validated p.P547H 1.000 173 0% 96 29.2% 48 47.9% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_RRM_3,superfamily_RNA-binding domain RBD ANK2 287 genome.wustl.edu 37 4 114120177 114120177 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001148.4 +1 reviewed p.T99I 1.000 98 0% 78 34.6% 0 - probably_damaging(0.981) deleterious(0) deleterious(0.870) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ANK2 287 genome.wustl.edu 37 4 114277815 114277815 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001148.4 +1 reviewed p.L2681I 0.533 413 0% 338 28.1% 0 - probably_damaging(0.991) - - NULL METTL14 57721 genome.wustl.edu 37 4 119621742 119621742 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020961.2 +1 provisional p.R228Q 0.954 422 0% 330 28.2% 7 28.5% probably_damaging(1) tolerated(0.29) deleterious(0.529) HMMPfam_MT-A70 SEC24D 9871 genome.wustl.edu 37 4 119738442 119738442 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014822.2 -1 reviewed p.S125I 0.001 393 0% 234 15.4% 46 17.3% possibly_damaging(0.849) deleterious(0.02) deleterious(0.709) NULL SYNPO2 171024 genome.wustl.edu 37 4 119952502 119952502 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133477.2 +1 validated p.A858T 0.001 284 0% 149 35.6% 15 0% benign(0.287) deleterious(0.02) deleterious(0.472) NULL USP53 54532 genome.wustl.edu 37 4 120192849 120192849 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019050.2 +1 validated p.N612H 0.111 245 0% 155 17.4% 29 6.8% possibly_damaging(0.929) deleterious(0.03) deleterious(0.740) NULL NDNF 79625 genome.wustl.edu 37 4 121958330 121958330 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024574.3 -1 validated p.R266C 0.971 191 0% 149 32.2% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_FN3,superfamily_FN_III-like TMEM155 132332 genome.wustl.edu 37 4 122682768 122682768 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152399.2 -1 validated p.A46V 0.416 245 0.4% 122 18% 1 0% benign(0.355) - - NULL CCNA2 890 genome.wustl.edu 37 4 122739981 122739981 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001237.3 -1 validated p.L364I 1.000 168 0% 87 33.3% 77 49.3% benign(0.05) tolerated(0.07) neutral(0.322) HMMPfam_Cyclin_C,HMMSmart_SM00385,superfamily_Cyclin-like BBS7 55212 genome.wustl.edu 37 4 122747044 122747044 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_176824.1 -1 reviewed p.A707T 0.958 94 0% 50 36% 4 25% benign(0) tolerated(1) - NULL TRPC3 7222 genome.wustl.edu 37 4 122825566 122825566 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130698.1 -1 validated p.V722I 1.000 127 0% 95 23.2% 0 - benign(0.001) tolerated(0.3) neutral(0.029) HMMPfam_Ion_trans TRPC3 7222 genome.wustl.edu 37 4 122853583 122853583 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130698.1 -1 validated p.R277M 0.998 78 0% 31 22.6% 1 0% benign(0.013) tolerated(0.12) neutral(0.261) HMMPfam_TRP_2 KIAA1109 84162 genome.wustl.edu 37 4 123147918 123147918 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015312.3 +1 reviewed p.E950D 0.987 526 0% 262 27.9% 2 50% possibly_damaging(0.72) deleterious(0.01) deleterious(0.667) NULL KIAA1109 84162 genome.wustl.edu 37 4 123207926 123207926 + Missense_Mutation SNP C C T rs45511998 byCluster TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015312.3 +1 reviewed p.R3090C 1.000 161 0% 110 26.4% 3 33.3% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL KIAA1109 84162 genome.wustl.edu 37 4 123257379 123257379 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015312.3 +1 reviewed p.A3961T 1.000 157 0% 142 15.5% 14 7.1% probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL KIAA1109 84162 genome.wustl.edu 37 4 123267794 123267794 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000306802 +1 known p.G626D 0.033 396 0% 332 28.6% 27 59.2% - - - NULL KIAA1109 84162 genome.wustl.edu 37 4 123267879 123267879 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015312.3 +1 reviewed p.R4279C 1.000 399 0% 320 31.6% 17 47% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ADAD1 132612 genome.wustl.edu 37 4 123301294 123301294 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_139243.3 +1 validated p.L24M 0.999 175 0% 96 33.3% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL ADAD1 132612 genome.wustl.edu 37 4 123336626 123336626 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_139243.3 +1 validated p.L448 1.000 537 0% 386 33.9% 0 - - - - HMMPfam_A_deamin,HMMSmart_SM00552 ADAD1 132612 genome.wustl.edu 37 4 123350812 123350812 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_139243.3 +1 validated p.C550Y 0.174 309 0% 189 28.6% 0 - benign(0.026) tolerated(0.15) neutral(0.242) HMMPfam_A_deamin,HMMSmart_SM00552 SPATA5 166378 genome.wustl.edu 37 4 123949346 123949346 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145207.2 +1 validated p.S625 1.000 633 0% 372 25.3% 1 0% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases ANKRD50 57182 genome.wustl.edu 37 4 125592811 125592811 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020337.2 -1 validated p.C541R 1.000 367 0% 238 25.6% 5 20% benign(0.024) tolerated(0.5) neutral(0.011) HMMPfam_Ank,superfamily_ANK FAT4 79633 genome.wustl.edu 37 4 126242643 126242643 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024582.4 +1 validated p.A1693T 0.999 273 0% 164 24.4% 1 0% possibly_damaging(0.948) tolerated(0.08) deleterious(0.691) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126336074 126336074 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024582.4 +1 validated p.G1986C 1.000 353 0% 279 29.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126372316 126372316 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024582.4 +1 validated p.R3382I 0.504 387 0.3% 275 29.5% 1 100% probably_damaging(0.958) deleterious(0.01) deleterious(0.807) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126373181 126373181 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024582.4 +1 validated p.S3670 0.990 267 0.4% 162 31.5% 2 0% - - - superfamily_Cadherin-like FAT4 79633 genome.wustl.edu 37 4 126373818 126373818 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024582.4 +1 validated p.G3883* 1.000 116 0% 73 20.5% 3 0% - - - PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin FAT4 79633 genome.wustl.edu 37 4 126412018 126412018 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024582.4 +1 validated p.G4681C 0.882 339 0% 176 25.6% 2 0% possibly_damaging(0.472) tolerated(0.1) neutral(0.443) NULL FAT4 79633 genome.wustl.edu 37 4 126412242 126412242 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024582.4 +1 validated p.S4755R 0.997 176 0% 93 30.1% 2 100% possibly_damaging(0.718) tolerated(0.06) deleterious(0.583) NULL INTU 27152 genome.wustl.edu 37 4 128564679 128564679 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015693.3 +1 validated p.D50E 0.982 403 0% 306 29.7% 3 0% possibly_damaging(0.891) deleterious(0) deleterious(0.795) NULL SLC25A31 83447 genome.wustl.edu 37 4 128694558 128694558 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031291.2 +1 validated p.R259 0.997 144 0% 72 11.1% 0 - - - - superfamily_Mitoch_carrier,HMMPfam_Mito_carr HSPA4L 22824 genome.wustl.edu 37 4 128719745 128719745 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014278.2 +1 provisional p.R104W 1.000 190 0% 146 34.2% 20 40% probably_damaging(0.998) tolerated(0.08) deleterious(0.774) HMMPfam_HSP70,superfamily_SSF53067 MFSD8 256471 genome.wustl.edu 37 4 128861055 128861055 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152778.2 -1 reviewed p.S217 0.037 184 0% 98 23.5% 7 57.1% - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter CCRN4L 25819 genome.wustl.edu 37 4 139966017 139966017 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012118.2 +1 reviewed p.H229Y 0.940 288 0.3% 156 25% 20 30% benign(0.001) tolerated(0.99) - HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos NAA15 80155 genome.wustl.edu 37 4 140297559 140297559 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_057175.3 +1 validated p.P663L 1.000 136 0% 85 15.3% 41 21.9% probably_damaging(1) tolerated(0.57) deleterious(0.506) superfamily_TPR-like NAA15 80155 genome.wustl.edu 37 4 140299982 140299982 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_057175.3 +1 validated p.E710A 1.000 204 0% 168 30.4% 39 28.2% benign(0.314) tolerated(0.6) neutral(0.103) superfamily_TPR-like MAML3 55534 genome.wustl.edu 37 4 140810611 140810611 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018717.4 -1 validated p.R660M 1.000 421 0% 188 23.4% 7 28.5% benign(0.001) tolerated(0.07) neutral(0.319) NULL CLGN 1047 genome.wustl.edu 37 4 141321545 141321545 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130675.1 -1 reviewed p.F220L 1.000 249 0% 133 20.3% 9 22.2% benign(0.406) tolerated(0.56) neutral(0.137) HMMPfam_Calreticulin,superfamily_Concanavalin A-like lectins/glucanases TBC1D9 23158 genome.wustl.edu 37 4 141578884 141578884 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015130.2 -1 validated p.G668 0.319 502 0.2% 309 34.6% 13 38.4% - - - HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p TBC1D9 23158 genome.wustl.edu 37 4 141590886 141590886 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015130.2 -1 validated p.R447C 1.000 88 0% 40 17.5% 10 0% possibly_damaging(0.92) tolerated(0.09) deleterious(0.667) NULL RNF150 57484 genome.wustl.edu 37 4 141789503 141789503 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020724.1 -1 validated p.S410Y 0.999 168 0% 103 31.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RNF150 57484 genome.wustl.edu 37 4 141888805 141888805 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020724.1 -1 validated p.R236Q 1.000 604 0.2% 495 32.5% 1 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL ZNF330 27309 genome.wustl.edu 37 4 142143572 142143572 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014487.4 +1 validated p.R16Q 0.992 150 0% 84 23.8% 37 40.5% benign(0.404) deleterious(0.04) deleterious(0.479) HMMPfam_NOA36 INPP4B 8821 genome.wustl.edu 37 4 143226667 143226667 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001101669.1 -1 reviewed p.S149 0.970 1092 0% 909 26.8% 0 - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB) USP38 84640 genome.wustl.edu 37 4 144135073 144135073 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032557.5 +1 validated p.A648 0.243 515 0.2% 373 30.6% 13 53.8% - - - HMMPfam_UCH,superfamily_Cysteine proteinases SMAD1 4086 genome.wustl.edu 37 4 146435834 146435834 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001003688.1 +1 reviewed p.G23 0.550 246 0% 162 23.5% 17 47% - - - superfamily_SMAD MH1 domain POU4F2 5458 genome.wustl.edu 37 4 147561895 147561895 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004575.2 +1 validated p.V389M 1.000 282 0% 123 26% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 TTC29 83894 genome.wustl.edu 37 4 147795954 147795954 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031956.2 -1 validated p.R238I 1.000 100 0% 90 13.3% 2 0% benign(0.002) deleterious(0.04) neutral(0.349) superfamily_TPR-like PRMT10 90826 genome.wustl.edu 37 4 148589783 148589783 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138364.2 -1 provisional p.S287I 0.854 80 1.3% 48 39.6% 5 80% benign(0.004) tolerated(0.31) neutral(0.027) superfamily_S-adenosyl-L-methionine-dependent methyltransferases ARHGAP10 79658 genome.wustl.edu 37 4 148985621 148985621 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000507661 +1 known p.G372R 0.387 120 0% 63 22.2% 10 20% - - - HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain NR3C2 4306 genome.wustl.edu 37 4 149002597 149002597 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000901.4 -1 reviewed p.A951 0.617 125 0% 60 28.3% 5 60% - - - HMMPfam_Hormone_recep,superfamily_Str_ncl_receptor DCLK2 166614 genome.wustl.edu 37 4 151153925 151153925 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001040260.2 +1 validated p.R504K 1.000 637 0% 386 24.9% 1 0% benign(0) tolerated(1) - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase MAB21L2 10586 genome.wustl.edu 37 4 151504960 151504960 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006439.4 +1 reviewed p.R260H 1.000 85 0% 37 10.8% 0 - possibly_damaging(0.925) deleterious(0.02) deleterious(0.756) HMMPfam_Mab-21 LRBA 987 genome.wustl.edu 37 4 151511895 151511895 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006726.2 -1 validated p.V2066M 1.000 267 0.4% 180 14.4% 27 48.1% benign(0.001) tolerated(0.08) neutral(0.300) NULL LRBA 987 genome.wustl.edu 37 4 151771925 151771925 + Missense_Mutation SNP G G A rs181605052 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006726.2 -1 validated p.L1319F 1.000 183 0% 147 21.8% 16 87.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat LRBA 987 genome.wustl.edu 37 4 151773128 151773128 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006726.2 -1 validated p.D1245G 1.000 263 0.4% 208 21.2% 7 100% probably_damaging(0.987) tolerated(0.1) deleterious(0.723) superfamily_ARM repeat LRBA 987 genome.wustl.edu 37 4 151789391 151789391 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006726.2 -1 validated p.R839H 1.000 324 0.3% 255 24.7% 13 23% benign(0.073) deleterious(0.03) neutral(0.369) superfamily_ARM repeat LRBA 987 genome.wustl.edu 37 4 151821207 151821207 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006726.2 -1 validated p.G640* 1.000 216 0% 150 23.3% 7 14.2% - - - superfamily_ARM repeat SH3D19 152503 genome.wustl.edu 37 4 152096448 152096448 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001009555.3 -1 validated p.Q23R 0.998 409 0% 266 30.1% 7 28.5% probably_damaging(0.973) deleterious(0) deleterious(0.859) NULL PET112 5188 genome.wustl.edu 37 4 152592448 152592448 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004564.2 -1 validated p.D518Y 0.174 275 0.4% 115 24.3% 29 58.6% possibly_damaging(0.708) deleterious(0) deleterious(0.700) superfamily_GatB/YqeY domain,HMMPfam_GatB_Yqey FBXW7 55294 genome.wustl.edu 37 4 153249526 153249526 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033632.2 -1 reviewed p.V418M 1.000 620 0% 457 30.4% 8 37.5% benign(0.226) tolerated(0.1) neutral(0.309) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 FBXW7 55294 genome.wustl.edu 37 4 153259076 153259076 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033632.2 -1 reviewed p.P247T 1.000 253 0% 166 26.5% 3 33.3% benign(0.012) tolerated(0.49) neutral(0.011) superfamily_WD40 repeat-like ARFIP1 27236 genome.wustl.edu 37 4 153809305 153809305 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001025595.1 +1 validated p.R271H 1.000 216 0% 173 28.3% 61 37.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Arfaptin ARFIP1 27236 genome.wustl.edu 37 4 153809415 153809415 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001025595.1 +1 validated p.R308C 1.000 162 0% 116 12.9% 69 14.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Arfaptin FHDC1 85462 genome.wustl.edu 37 4 153897002 153897002 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033393.2 +1 validated p.P853 0.000 96 0% 47 19.1% 2 50% - - - NULL FHDC1 85462 genome.wustl.edu 37 4 153897455 153897455 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033393.2 +1 validated p.R1004 0.678 41 0% 32 40.6% 7 28.5% - - - NULL KIAA0922 23240 genome.wustl.edu 37 4 154519825 154519825 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015196.3 +1 validated p.G735D 1.000 95 0% 73 12.3% 5 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL KIAA0922 23240 genome.wustl.edu 37 4 154523386 154523386 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015196.3 +1 validated p.S782 0.034 473 0% 408 32.4% 4 100% - - - NULL DCHS2 54798 genome.wustl.edu 37 4 155161728 155161728 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017639.3 -1 validated p.V1985 1.000 267 0% 266 25.9% 2 0% - - - HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like FGA 2243 genome.wustl.edu 37 4 155505976 155505976 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000508.3 -1 reviewed p.D634G 1.000 195 0% 113 31.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like GLRB 2743 genome.wustl.edu 37 4 157999285 157999285 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000824.4 +1 reviewed p.Y37H 1.000 538 0% 294 23.8% 16 62.5% possibly_damaging(0.614) tolerated(0.11) deleterious(0.485) NULL GRIA2 2891 genome.wustl.edu 37 4 158224919 158224919 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000826.3 +1 reviewed p.A149T 1.000 665 0.3% 474 29.3% 1 100% benign(0.001) tolerated(0.2) neutral(0.049) HMMPfam_ANF_receptor,superfamily_SSF53822 GRIA2 2891 genome.wustl.edu 37 4 158233939 158233939 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000826.3 +1 reviewed p.R193Q 1.000 287 0% 189 19.6% 3 0% probably_damaging(0.994) tolerated(0.16) deleterious(0.512) HMMPfam_ANF_receptor,superfamily_SSF53822 GRIA2 2891 genome.wustl.edu 37 4 158242639 158242639 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000826.3 +1 reviewed p.V257D 0.998 470 0% 301 27.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ANF_receptor,superfamily_SSF53822 GRIA2 2891 genome.wustl.edu 37 4 158257900 158257900 + Splice_Site SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000826.3 +1 reviewed e11+1 1.000 476 0% 347 30.3% 0 - - - - - GRIA2 2891 genome.wustl.edu 37 4 158281265 158281265 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000510854 +1 known p.W84* 1.000 170 0% 127 27.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lig_chan,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II ETFDH 2110 genome.wustl.edu 37 4 159606354 159606354 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004453.2 +1 reviewed p.G197C 1.000 371 0% 248 12.1% 11 27.2% probably_damaging(0.993) deleterious(0) deleterious(0.895) superfamily_FAD/NAD(P)-binding domain ETFDH 2110 genome.wustl.edu 37 4 159618748 159618748 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004453.2 +1 reviewed p.R290I 0.999 472 0.2% 316 11.4% 17 11.7% benign(0.045) deleterious(0.04) neutral(0.351) superfamily_FAD/NAD(P)-binding domain ETFDH 2110 genome.wustl.edu 37 4 159624622 159624622 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004453.2 +1 reviewed p.S388 0.988 268 0% 188 29.8% 21 47.6% - - - superfamily_FAD/NAD(P)-binding domain ETFDH 2110 genome.wustl.edu 37 4 159627439 159627439 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004453.2 +1 reviewed p.L462M 0.097 183 0% 102 20.6% 26 23% possibly_damaging(0.615) tolerated(0.09) deleterious(0.510) superfamily_FAD/NAD(P)-binding domain PPID 5481 genome.wustl.edu 37 4 159631761 159631761 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000507213 -1 known p.V41A 0.000 206 0% 128 11.7% 2 0% benign(0.001) deleterious(0.02) neutral(0.383) NULL RAPGEF2 9693 genome.wustl.edu 37 4 160252898 160252898 + Silent SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014247.2 +1 validated p.G403 0.996 510 0% 343 12.5% 2 0% - - - HMMSmart_PDZ,superfamily_PDZ,superfamily_Ras_GEF RAPGEF2 9693 genome.wustl.edu 37 4 160273843 160273843 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000505026 +1 known p.Y64* 0.954 207 0% 84 26.2% 11 27.2% benign(0.108) tolerated(0.08) neutral(0.308) NULL NPY5R 4889 genome.wustl.edu 37 4 164271907 164271907 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006174.2 +1 provisional p.A161V 0.023 670 0% 354 11% 0 - benign(0) tolerated(0.38) neutral(0.018) HMMPfam_7tm_1,superfamily_SSF81321 TRIM60 166655 genome.wustl.edu 37 4 165961269 165961269 + Silent SNP C C T rs187100243 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152620.2 +1 reviewed p.S15 0.879 146 0% 68 29.4% 0 - - - - superfamily_SSF57850 KLHL2 11275 genome.wustl.edu 37 4 166235284 166235284 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007246.3 +1 validated p.Q525H 1.000 375 0.3% 210 26.7% 27 40.7% benign(0) tolerated(0.05) neutral(0.345) HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central CPE 1363 genome.wustl.edu 37 4 166385617 166385617 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001873.2 +1 reviewed p.A128V 1.000 219 0% 161 29.2% 21 38% benign(0.018) tolerated(1) neutral(0.001) HMMPfam_Peptidase_M14,superfamily_Zn-dependent exopeptidases CPE 1363 genome.wustl.edu 37 4 166418679 166418679 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001873.2 +1 reviewed p.E450* 1.000 265 0% 172 25.6% 22 54.5% - - - HMMSmart_SM00631,superfamily_Carboxypeptidase regulatory domain TLL1 7092 genome.wustl.edu 37 4 166946492 166946492 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012464.3 +1 reviewed p.S356F 1.000 293 0% 187 32.1% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain DDX60L 91351 genome.wustl.edu 37 4 169340478 169340478 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001012967.1 -1 validated p.R862M 0.997 49 0% 45 15.6% 5 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases PALLD 23022 genome.wustl.edu 37 4 169815741 169815741 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016081.3 +1 reviewed p.Y704 1.000 83 0% 78 25.6% 50 36% - - - NULL SH3RF1 57630 genome.wustl.edu 37 4 170038746 170038746 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020870.3 -1 reviewed p.P569S 0.998 254 0% 153 26.1% 14 50% probably_damaging(0.986) tolerated(0.43) neutral(0.448) NULL CLCN3 1182 genome.wustl.edu 37 4 170601272 170601272 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173872.2 +1 validated p.P78S 1.000 214 0% 115 14.8% 27 44.4% benign(0.01) tolerated(0.09) neutral(0.297) NULL CLCN3 1182 genome.wustl.edu 37 4 170618796 170618796 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173872.2 +1 validated p.A492T 1.000 354 0% 211 25.1% 55 32.7% possibly_damaging(0.734) tolerated(0.33) neutral(0.293) HMMPfam_Voltage_CLC,superfamily_Cl-channel_core C4orf27 54969 genome.wustl.edu 37 4 170650841 170650841 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017867.2 -1 validated p.G310D 1.000 302 0.3% 161 24.8% 32 53.1% possibly_damaging(0.878) deleterious(0.04) deleterious(0.691) HMMPfam_DUF2228 GALNT7 51809 genome.wustl.edu 37 4 174169582 174169582 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017423.2 +1 reviewed p.R193H 1.000 323 0% 252 29.8% 49 53% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Nucleotide-diphospho-sugar transferases FBXO8 26269 genome.wustl.edu 37 4 175158731 175158731 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012180.2 -1 reviewed p.C264 1.000 195 0% 115 22.6% 23 47.8% - - - HMMPfam_Sec7,HMMSmart_SM00222,superfamily_Sec7 domain ADAM29 11086 genome.wustl.edu 37 4 175898280 175898280 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130703.1 +1 reviewed p.G535V 0.965 510 0% 299 26.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ADAM_CR,HMMSmart_SM00608 ADAM29 11086 genome.wustl.edu 37 4 175898923 175898923 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130703.1 +1 reviewed p.Q749H 0.788 932 0.1% 577 16.1% 0 - unknown(0) deleterious(0.02) - NULL WDR17 116966 genome.wustl.edu 37 4 177084383 177084383 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_170710.4 +1 reviewed p.A1001S 0.038 256 0% 147 34.7% 0 - benign(0.007) tolerated(0.84) neutral(0.001) NULL SPCS3 60559 genome.wustl.edu 37 4 177249433 177249433 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021928.3 +1 validated p.H165 0.997 139 0% 100 26% 34 20.5% - - - HMMPfam_SPC22 VEGFC 7424 genome.wustl.edu 37 4 177609030 177609030 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000280193 -1 known p.H252 0.003 226 0% 163 22.7% 14 21.4% - - - NULL VEGFC 7424 genome.wustl.edu 37 4 177649081 177649081 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000280193 -1 known p.E135K 1.000 261 0% 172 15.1% 9 0% probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMPfam_PDGF,HMMSmart_SM00141,superfamily_Cystine-knot cytokines AGA 175 genome.wustl.edu 37 4 178360729 178360729 + Splice_Site SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000027.3 -1 reviewed e3+1 1.000 300 0% 198 24.2% 0 - - - - - ODZ3 55714 genome.wustl.edu 37 4 183658161 183658161 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080477.1 +1 provisional p.A1056 0.988 682 0.1% 482 26.8% 3 66.6% - - - superfamily_ConA_like_lec_gl ODZ3 55714 genome.wustl.edu 37 4 183675695 183675695 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080477.1 +1 provisional p.P1392H 0.925 71 0% 32 37.5% 5 20% benign(0) tolerated(0.26) neutral(0.034) superfamily_ConA_like_lec_gl,superfamily_SSF101898,superfamily_SSF63829 ODZ3 55714 genome.wustl.edu 37 4 183676163 183676163 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080477.1 +1 provisional p.S1548I 1.000 141 0% 69 37.7% 11 72.7% possibly_damaging(0.823) deleterious(0.02) deleterious(0.695) HMMPfam_RHS_repeat,superfamily_ConA_like_lec_gl,superfamily_SSF63829 DCTD 1635 genome.wustl.edu 37 4 183836131 183836131 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001012732.1 -1 reviewed p.D74 0.996 89 0% 56 19.6% 110 48.1% - - - HMMPfam_dCMP_cyt_deam_1,superfamily_Cytidine_deaminase-like WWC2 80014 genome.wustl.edu 37 4 184202028 184202028 + Missense_Mutation SNP C C A rs186032528 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024949.5 +1 validated p.P888T 0.211 26 0% 18 22.2% 1 0% benign(0.009) tolerated(0.84) neutral(0.001) NULL CLDN22 53842 genome.wustl.edu 37 4 184240949 184240949 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001111319.1 -1 provisional p.A141 0.283 197 0% 92 19.6% 1 100% - - - HMMPfam_PMP22_Claudin TRAPPC11 60684 genome.wustl.edu 37 4 184614217 184614217 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021942.4 +1 validated p.Q718H 1.000 244 0% 132 31.8% 25 32% possibly_damaging(0.46) tolerated(0.14) neutral(0.400) NULL TRAPPC11 60684 genome.wustl.edu 37 4 184618723 184618723 + Splice_Site SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021942.4 +1 validated e23+2 1.000 321 0.3% 175 32% 0 - - - - - TRAPPC11 60684 genome.wustl.edu 37 4 184629569 184629569 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021942.4 +1 validated p.R1067C 1.000 201 0% 130 40% 41 36.5% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL STOX2 56977 genome.wustl.edu 37 4 184932241 184932241 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000506529 +1 known p.G106C 0.000 43 0% 22 22.7% 0 - - - - NULL IRF2 3660 genome.wustl.edu 37 4 185339814 185339814 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002199.3 -1 reviewed p.A79V 1.000 140 0% 80 32.5% 28 42.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) "HMMPfam_IRF,HMMSmart_SM00348,superfamily_""Winged helix"" DNA-binding domain" MLF1IP 79682 genome.wustl.edu 37 4 185652109 185652109 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024629.3 -1 validated p.K21E 0.139 164 0% 68 10.3% 4 0% benign(0.004) deleterious(0.02) neutral(0.383) NULL ACSL1 2180 genome.wustl.edu 37 4 185678285 185678285 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001995.2 -1 reviewed p.K697N 0.954 890 0.1% 492 26.4% 9 55.5% benign(0.008) tolerated(0.21) neutral(0.044) NULL ACSL1 2180 genome.wustl.edu 37 4 185689582 185689582 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001995.2 -1 reviewed p.A339V 1.000 248 0% 126 27% 12 58.3% benign(0.084) tolerated(0.05) neutral(0.351) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like HELT 391723 genome.wustl.edu 37 4 185941704 185941704 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001029887.1 +1 provisional p.Q254H 1.000 26 0% 18 38.9% 0 - possibly_damaging(0.852) tolerated(0.1) deleterious(0.614) NULL KIAA1430 57587 genome.wustl.edu 37 4 186111451 186111451 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020827.1 -1 validated p.N300 0.635 114 0% 71 23.9% 27 37% - - - NULL UFSP2 55325 genome.wustl.edu 37 4 186336930 186336930 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018359.3 -1 validated p.H142R 1.000 334 0.3% 207 31.9% 24 37.5% possibly_damaging(0.49) tolerated(0.63) neutral(0.167) NULL SORBS2 8470 genome.wustl.edu 37 4 186544278 186544278 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021069.4 -1 reviewed p.L765 1.000 268 0% 146 32.9% 1 0% - - - NULL TLR3 7098 genome.wustl.edu 37 4 187004111 187004111 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003265.2 +1 reviewed p.S424I 0.038 232 0% 139 24.5% 3 33.3% probably_damaging(0.974) deleterious(0.02) deleterious(0.799) superfamily_SSF52058 CYP4V2 285440 genome.wustl.edu 37 4 187130426 187130426 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207352.3 +1 reviewed p.G469C 1.000 409 0.2% 224 30.8% 6 16.6% - - - HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450 KLKB1 3818 genome.wustl.edu 37 4 187171484 187171484 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000892.3 +1 reviewed p.T229I 0.237 699 0.1% 329 28.6% 2 100% probably_damaging(0.979) deleterious(0.02) deleterious(0.805) HMMSmart_APPLE,PatternScan_APPLE,HMMPfam_PAN_1 MTNR1A 4543 genome.wustl.edu 37 4 187455368 187455368 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005958.3 -1 reviewed p.S176 0.983 83 1.2% 51 21.6% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MTNR1A 4543 genome.wustl.edu 37 4 187455557 187455557 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005958.3 -1 reviewed p.G113 0.999 93 0% 42 31% 0 - - - - HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like FAT1 2195 genome.wustl.edu 37 4 187518280 187518280 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005245.3 -1 reviewed p.H4138 1.000 144 0% 78 33.3% 26 50% unknown(0) - - HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_CA,superfamily_EGF/Laminin FAT1 2195 genome.wustl.edu 37 4 187524889 187524889 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005245.3 -1 reviewed p.G3597 0.052 93 0% 51 51% 32 50% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT1 2195 genome.wustl.edu 37 4 187538232 187538232 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005245.3 -1 reviewed p.G3001D 1.000 150 0% 71 32.4% 13 30.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT1 2195 genome.wustl.edu 37 4 187540874 187540874 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005245.3 -1 reviewed p.A2289V 0.000 278 0% 138 29.7% 7 42.8% benign(0.025) tolerated(0.21) neutral(0.045) HMMPfam_Cadherin,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT1 2195 genome.wustl.edu 37 4 187541857 187541857 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005245.3 -1 reviewed p.G1961 0.978 392 0% 193 26.4% 4 75% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT1 2195 genome.wustl.edu 37 4 187541875 187541875 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005245.3 -1 reviewed p.S1955 0.058 380 0% 184 27.7% 8 62.5% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT1 2195 genome.wustl.edu 37 4 187542110 187542110 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005245.3 -1 reviewed p.P1877H 1.000 197 0% 70 25.7% 9 55.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT1 2195 genome.wustl.edu 37 4 187628390 187628390 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005245.3 -1 reviewed p.D864 1.000 282 0% 126 25.4% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like TRIML1 339976 genome.wustl.edu 37 4 189063561 189063561 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178556.3 +1 provisional p.Q220H 1.000 228 0% 165 23% 0 - benign(0.28) deleterious(0) deleterious(0.530) NULL TRIML1 339976 genome.wustl.edu 37 4 189065197 189065197 + Missense_Mutation SNP C C G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178556.3 +1 provisional p.P256A 0.008 35 0% 29 41.4% 0 - benign(0) tolerated(0.4) neutral(0.016) NULL TRIML1 339976 genome.wustl.edu 37 4 189068028 189068028 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178556.3 +1 provisional p.E303 0.093 134 0% 91 22% 0 - - - - HMMSmart_PRY TUBB7P 56604 genome.wustl.edu 37 4 190904398 190904398 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020040.3 -1 validated p.N195 1.000 114 0% 63 11.1% 2 0% - - - HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like EXOC3 11336 genome.wustl.edu 37 5 453914 453914 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000503889 +1 known p.Q135* 1.000 125 0% 56 32.1% 28 50% probably_damaging(0.953) tolerated(0.6) neutral(0.401) HMMPfam_Sec6 CEP72 55722 genome.wustl.edu 37 5 644471 644471 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018140.3 +1 reviewed p.L533F 0.159 59 0% 38 28.9% 3 33.3% probably_damaging(0.996) deleterious(0.04) deleterious(0.810) NULL ZDHHC11 79844 genome.wustl.edu 37 5 819640 819640 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024786.2 -1 validated p.Q382H 0.001 147 0% 77 24.7% 0 - benign(0.253) - - NULL TERT 7015 genome.wustl.edu 37 5 1264629 1264629 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198253.2 -1 reviewed p.D911 0.000 50 0% 14 35.7% 2 50% - - - NULL LPCAT1 79888 genome.wustl.edu 37 5 1488544 1488544 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024830.3 -1 validated p.T210I 0.997 64 0% 35 11.4% 54 27.7% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Acyltransferase,HMMSmart_PlsC,superfamily_SSF69593 IRX2 153572 genome.wustl.edu 37 5 2749803 2749803 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001134222.1 -1 validated p.A116 0.997 28 0.000 6 0.667 1 0% - - - HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like ADAMTS16 170690 genome.wustl.edu 37 5 5235246 5235246 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_139056.2 +1 reviewed p.S657I 1.000 149 0% 56 30.4% 0 - possibly_damaging(0.928) deleterious(0.01) deleterious(0.781) NULL ADAMTS16 170690 genome.wustl.edu 37 5 5262872 5262872 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_139056.2 +1 reviewed p.C922Y 0.982 223 0.4% 91 22% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat ADAMTS16 170690 genome.wustl.edu 37 5 5306663 5306663 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_139056.2 +1 reviewed p.C1078Y 1.000 177 0% 118 31.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat KIAA0947 23379 genome.wustl.edu 37 5 5462194 5462194 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015325.1 +1 validated p.T916M 0.000 355 0% 174 25.9% 2 0% benign(0.082) deleterious(0.03) neutral(0.370) NULL KIAA0947 23379 genome.wustl.edu 37 5 5464054 5464054 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015325.1 +1 validated p.A1536V 0.000 176 0% 89 23.6% 10 50% possibly_damaging(0.482) deleterious(0.05) deleterious(0.505) NULL KIAA0947 23379 genome.wustl.edu 37 5 5464599 5464599 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015325.1 +1 validated p.A1718T 1.000 168 0% 102 26.5% 15 46.6% possibly_damaging(0.737) deleterious(0.02) deleterious(0.653) NULL KIAA0947 23379 genome.wustl.edu 37 5 5464963 5464963 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015325.1 +1 validated p.T1839M 0.000 109 0% 68 39.7% 18 55.5% benign(0.081) tolerated(0.08) neutral(0.306) NULL NSUN2 54888 genome.wustl.edu 37 5 6607381 6607381 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017755.4 -1 validated p.G480 0.000 361 0% 174 31.6% 63 33.3% - - - NULL NSUN2 54888 genome.wustl.edu 37 5 6616959 6616959 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017755.4 -1 validated p.R301Q 1.000 273 0% 156 32.1% 64 45.3% probably_damaging(0.961) deleterious(0) deleterious(0.849) HMMPfam_Nol1_Nop2_Fmu,superfamily_SSF53335 SRD5A1 6715 genome.wustl.edu 37 5 6662979 6662979 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001047.2 +1 validated p.E205K 0.999 151 0% 94 24.5% 11 45.4% probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_Steroid_dh PAPD7 11044 genome.wustl.edu 37 5 6746450 6746450 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006999.4 +1 reviewed p.G207C 1.000 275 0% 165 37% 7 42.8% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_PAP_assoc,superfamily_PAP/OAS1 substrate-binding domain ADCY2 108 genome.wustl.edu 37 5 7707876 7707876 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020546.2 +1 reviewed p.E442D 0.991 236 0% 139 20.9% 0 - probably_damaging(0.992) deleterious(0.01) deleterious(0.853) HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase FASTKD3 79072 genome.wustl.edu 37 5 7867936 7867936 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024091.2 -1 validated p.C87 0.093 165 0% 74 28.4% 6 83.3% - - - NULL SEMA5A 9037 genome.wustl.edu 37 5 9054251 9054251 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003966.2 -1 reviewed p.I879 1.000 53 0% 27 37% 1 0% - - - HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1 SEMA5A 9037 genome.wustl.edu 37 5 9108355 9108355 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003966.2 -1 reviewed p.T657I 1.000 86 0% 49 24.5% 1 0% possibly_damaging(0.908) tolerated(0.05) deleterious(0.707) HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1 CCT5 22948 genome.wustl.edu 37 5 10256128 10256128 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012073.3 +1 reviewed p.I131 1.000 87 0% 54 14.8% 304 26.9% - - - HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like MARCH6 10299 genome.wustl.edu 37 5 10402205 10402205 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005885.2 +1 provisional p.T336I 1.000 231 0% 158 11.4% 42 28.5% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) NULL DNAH5 1767 genome.wustl.edu 37 5 13753638 13753638 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001369.2 -1 reviewed p.A3526S 1.000 497 0% 357 24.6% 0 - benign(0.109) tolerated(0.24) neutral(0.046) NULL DNAH5 1767 genome.wustl.edu 37 5 13794111 13794111 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001369.2 -1 reviewed p.A2648 0.991 233 0% 183 26.2% 0 - - - - HMMSmart_AAA,HMMPfam_AAA_5,superfamily_SSF52540 DNAH5 1767 genome.wustl.edu 37 5 13841898 13841898 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001369.2 -1 reviewed p.S1796Y 1.000 353 0% 220 14.1% 0 - possibly_damaging(0.822) deleterious(0.02) deleterious(0.694) HMMPfam_DHC_N2 TRIO 7204 genome.wustl.edu 37 5 14316823 14316823 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007118.2 +1 validated p.L568M 1.000 41 0% 23 26.1% 6 33.3% unknown(0) tolerated(0.12) - HMMPfam_Spectrin,superfamily_Spectrin repeat TRIO 7204 genome.wustl.edu 37 5 14366971 14366971 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007118.2 +1 validated p.V919 1.000 150 0% 75 17.3% 13 7.6% - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat ENSG00000249556 0 genome.wustl.edu 37 5 14652135 14652135 + RNA SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000515374 +1 novel NULL 1.000 191 0.5% 99 34.3% 22 0% - - - - ENSG00000249556 0 genome.wustl.edu 37 5 14652210 14652210 + RNA SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000515374 +1 novel NULL 1.000 138 0% 66 33.3% 24 0% - - - - MARCH11 441061 genome.wustl.edu 37 5 16067881 16067881 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001102562.1 -1 provisional p.A303D 1.000 178 0% 113 17.7% 0 - probably_damaging(0.957) deleterious(0.05) deleterious(0.746) NULL FAM134B 54463 genome.wustl.edu 37 5 16483542 16483542 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001034850.1 -1 reviewed p.R166 0.428 239 0% 161 28% 0 - - - - NULL MYO10 4651 genome.wustl.edu 37 5 16675128 16675128 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012334.2 -1 validated p.R1600* 0.961 142 0% 66 30.3% 41 4.8% - - - HMMPfam_MyTH4,HMMSmart_MyTH4 MYO10 4651 genome.wustl.edu 37 5 16701803 16701803 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012334.2 -1 validated p.Q901* 1.000 103 0% 54 13% 6 0% - - - NULL MYO10 4651 genome.wustl.edu 37 5 16755015 16755015 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012334.2 -1 validated p.D617 1.000 65 0% 32 15.6% 2 0% - - - HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 PRDM9 56979 genome.wustl.edu 37 5 23510084 23510084 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020227.2 +1 provisional p.L83 0.000 192 0% 116 34.5% 0 - - - - HMMSmart_KRAB PRDM9 56979 genome.wustl.edu 37 5 23527087 23527087 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020227.2 +1 provisional p.H630 1.000 455 0.2% 272 18.4% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 CDH10 1008 genome.wustl.edu 37 5 24491900 24491900 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006727.2 -1 reviewed p.F554S 1.000 81 0% 70 31.4% 0 - probably_damaging(0.968) deleterious(0) deleterious(0.855) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CDH9 1007 genome.wustl.edu 37 5 26881281 26881281 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016279.3 -1 reviewed p.A778 0.567 482 0.2% 415 30.4% 0 - - - - HMMPfam_Cadherin_C LOC100130803 100130803 genome.wustl.edu 37 5 29600850 29600850 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_001722411.1 +1 model p.T46I 0.998 33 0% 13 30.8% 0 - - - - superfamily_Ubiquitin-like PDZD2 23037 genome.wustl.edu 37 5 31799522 31799522 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178140.2 +1 reviewed p.T56M 0.000 176 0% 104 20.2% 0 - possibly_damaging(0.593) deleterious(0) deleterious(0.649) NULL PDZD2 23037 genome.wustl.edu 37 5 32061148 32061148 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178140.2 +1 reviewed p.R787C 0.953 143 0% 73 23.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like PDZD2 23037 genome.wustl.edu 37 5 32074101 32074101 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178140.2 +1 reviewed p.G963 0.991 183 0% 104 26.9% 0 - - - - NULL PDZD2 23037 genome.wustl.edu 37 5 32077650 32077650 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178140.2 +1 reviewed p.A1207D 0.001 264 0% 136 19.9% 0 - possibly_damaging(0.736) deleterious(0.02) deleterious(0.652) NULL PDZD2 23037 genome.wustl.edu 37 5 32088657 32088657 + Silent SNP C C T rs183567611 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178140.2 +1 reviewed p.S1701 0.000 213 0% 118 20.3% 0 - - - - NULL PDZD2 23037 genome.wustl.edu 37 5 32090587 32090587 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178140.2 +1 reviewed p.L2345M 1.000 125 0% 60 30% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GOLPH3 64083 genome.wustl.edu 37 5 32143878 32143878 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022130.3 -1 reviewed p.R112C 1.000 183 0% 126 29.4% 76 48.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_GPP34 ZFR 51663 genome.wustl.edu 37 5 32355883 32355883 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016107.3 -1 validated p.D1070Y 1.000 338 0% 196 31.6% 20 45% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TARS 6897 genome.wustl.edu 37 5 33461807 33461807 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152295.3 +1 reviewed p.K529 1.000 199 0% 146 16.4% 188 27.1% - - - superfamily_Class II aaRS and biotin synthetases ADAMTS12 81792 genome.wustl.edu 37 5 33546291 33546291 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030955.2 -1 reviewed p.G1440E 1.000 219 0% 131 29% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat RXFP3 51289 genome.wustl.edu 37 5 33936967 33936967 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016568.3 +1 validated p.A41V 0.974 33 0% 14 57.1% 0 - benign(0.017) deleterious(0.01) neutral(0.406) NULL SLC45A2 51151 genome.wustl.edu 37 5 33982455 33982455 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016180.3 -1 reviewed p.V150I 1.000 318 0% 164 24.4% 0 - benign(0.395) tolerated(0.07) neutral(0.446) superfamily_MFS general substrate transporter BRIX1 55299 genome.wustl.edu 37 5 34925448 34925448 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018321.3 +1 validated p.A304T 1.000 204 0% 110 19.1% 66 46.9% benign(0.282) tolerated(0.41) neutral(0.101) NULL DNAJC21 134218 genome.wustl.edu 37 5 34933928 34933928 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_194283.3 +1 validated p.L36M 1.000 81 0% 38 34.2% 21 47.6% possibly_damaging(0.808) tolerated(0.2) neutral(0.353) HMMPfam_DnaJ,HMMSmart_SM00271,superfamily_Chaperone J-domain AGXT2 64902 genome.wustl.edu 37 5 35047958 35047958 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031900.3 -1 reviewed p.L14M 0.031 135 0% 91 24.2% 0 - possibly_damaging(0.688) deleterious(0.05) deleterious(0.591) NULL SPEF2 79925 genome.wustl.edu 37 5 35776364 35776364 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024867.3 +1 validated p.A1362T 0.397 343 0% 242 31% 5 80% probably_damaging(0.998) tolerated(0.17) deleterious(0.533) NULL SPEF2 79925 genome.wustl.edu 37 5 35807304 35807304 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024867.3 +1 validated p.K1776N 1.000 660 0.2% 345 23.5% 1 0% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) HMMPfam_hATC CAPSL 133690 genome.wustl.edu 37 5 35904661 35904661 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001042625.1 -1 validated p.A205T 0.996 167 0% 129 35.7% 1 100% benign(0.011) deleterious(0.01) neutral(0.406) NULL LMBRD2 92255 genome.wustl.edu 37 5 36104192 36104192 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001007527.1 -1 validated p.R682* 1.000 161 0% 104 26% 1 0% - - - NULL SKP2 6502 genome.wustl.edu 37 5 36166689 36166689 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005983.2 +1 reviewed p.R154Q 0.236 233 0% 204 31.4% 40 45% benign(0.361) tolerated(0.58) neutral(0.120) NULL C5orf42 65250 genome.wustl.edu 37 5 37138901 37138901 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_023073.3 -1 predicted p.I1749V 1.000 513 0% 359 29.2% 8 50% possibly_damaging(0.495) deleterious(0) deleterious(0.610) NULL C5orf42 65250 genome.wustl.edu 37 5 37157771 37157771 + Splice_Site SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_023073.3 -1 predicted e22+1 1.000 111 0% 84 34.5% 0 - - - - - C5orf42 65250 genome.wustl.edu 37 5 37173924 37173924 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_023073.3 -1 predicted p.A915D 0.001 264 0% 165 26.7% 3 66.6% benign(0.001) deleterious(0) neutral(0.445) NULL C5orf42 65250 genome.wustl.edu 37 5 37183564 37183564 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_023073.3 -1 predicted p.D454 0.812 141 0% 86 31.4% 4 100% - - - NULL NUP155 9631 genome.wustl.edu 37 5 37305251 37305251 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153485.1 -1 reviewed p.A989T 1.000 212 0% 133 32.3% 40 42.5% probably_damaging(0.983) tolerated(0.39) neutral(0.445) HMMPfam_Nucleoporin EGFLAM 133584 genome.wustl.edu 37 5 38458480 38458480 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152403.2 +1 validated p.R919* 1.000 89 0% 60 36.7% 3 0% - - - HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 EGFLAM 133584 genome.wustl.edu 37 5 38463085 38463085 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152403.2 +1 validated p.Q949H 0.983 63 0% 56 28.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 LIFR 3977 genome.wustl.edu 37 5 38489252 38489252 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001127671.1 -1 reviewed p.F755V 1.000 174 0% 91 22% 4 25% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III LIFR 3977 genome.wustl.edu 37 5 38502810 38502810 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001127671.1 -1 reviewed p.R510H 1.000 104 0% 97 32% 5 40% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III LIFR 3977 genome.wustl.edu 37 5 38504161 38504161 + Frame_Shift_Del DEL A A - novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001127671.1 -1 reviewed p.S452fs 0.943 - - - - - - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III RICTOR 253260 genome.wustl.edu 37 5 38947369 38947369 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152756.3 -1 validated p.F1437L 1.000 314 0% 215 30.2% 6 16.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_ARM repeat RICTOR 253260 genome.wustl.edu 37 5 38963085 38963085 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152756.3 -1 validated p.P487T 1.000 174 0% 157 15.9% 4 50% possibly_damaging(0.819) tolerated(0.09) deleterious(0.606) superfamily_ARM repeat DAB2 1601 genome.wustl.edu 37 5 39377340 39377340 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001343.2 -1 validated p.A517S 0.000 209 0% 160 27.5% 8 0% benign(0.001) tolerated(0.21) neutral(0.044) PatternScan_PFKB_KINASES_1 CARD6 84674 genome.wustl.edu 37 5 40853164 40853164 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032587.3 +1 reviewed p.E577G 0.026 716 0.1% 420 30.7% 2 0% possibly_damaging(0.919) deleterious(0.01) deleterious(0.775) NULL CARD6 84674 genome.wustl.edu 37 5 40853520 40853520 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032587.3 +1 reviewed p.S696R 0.000 656 0% 405 28.6% 3 0% possibly_damaging(0.922) deleterious(0.01) deleterious(0.777) NULL C7 730 genome.wustl.edu 37 5 40959659 40959659 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000587.2 +1 reviewed p.R533I 0.004 58 0% 46 30.4% 0 - benign(0.081) tolerated(0.08) neutral(0.306) HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1 C7 730 genome.wustl.edu 37 5 40972516 40972516 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000587.2 +1 reviewed p.V632I 0.996 374 0% 217 30.9% 1 0% benign(0.117) tolerated(0.44) neutral(0.022) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module HEATR7B2 133558 genome.wustl.edu 37 5 41054935 41054935 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173489.4 -1 validated p.R347 0.003 252 0% 115 30.4% 0 - - - - superfamily_ARM repeat C6 729 genome.wustl.edu 37 5 41149518 41149518 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000065.2 -1 reviewed p.C816 0.261 722 0% 530 25.3% 0 - - - - HMMSmart_KAZAL,HMMSmart_FIMAC,HMMPfam_Kazal_2 C5orf51 285636 genome.wustl.edu 37 5 41911209 41911209 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175921.4 +1 validated p.L138 0.983 161 0% 84 23.8% 14 28.5% - - - NULL HMGCS1 3157 genome.wustl.edu 37 5 43298779 43298779 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098272.1 -1 validated p.I97V 1.000 338 0% 224 25.9% 70 35.7% benign(0.002) tolerated(0.48) neutral(0.011) HMMPfam_HMG_CoA_synt_N,superfamily_Thiolase-like NNT 23530 genome.wustl.edu 37 5 43700331 43700331 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012343.3 +1 reviewed p.D996A 1.000 220 0% 139 32.4% 60 31.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PNTB,superfamily_SSF52467 HCN1 348980 genome.wustl.edu 37 5 45262821 45262821 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021072.2 -1 validated p.I625 0.945 159 0% 103 18.4% 0 - - - - NULL HCN1 348980 genome.wustl.edu 37 5 45396641 45396641 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021072.2 -1 validated p.A395T 1.000 119 0% 87 26.4% 0 - benign(0.078) tolerated(0.42) neutral(0.019) superfamily_SSF81324 PARP8 79668 genome.wustl.edu 37 5 50123838 50123838 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024615.3 +1 validated p.E680* 1.000 276 0% 166 14.5% 15 0% - - - superfamily_ADP-ribosylation ITGA1 3672 genome.wustl.edu 37 5 52243179 52243179 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181501.1 +1 reviewed p.A1128D 1.000 187 0% 90 31.1% 6 0% possibly_damaging(0.538) tolerated(0.26) neutral(0.216) superfamily_SSF69179 ITGA2 3673 genome.wustl.edu 37 5 52344497 52344497 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002203.3 +1 reviewed p.V176A 1.000 825 0% 817 26.4% 3 0% possibly_damaging(0.822) deleterious(0) deleterious(0.756) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like,superfamily_Integrin alpha N-terminal domain ITGA2 3673 genome.wustl.edu 37 5 52344601 52344601 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002203.3 +1 reviewed e6+1 1.000 524 0% 423 21.5% 0 - - - - - ITGA2 3673 genome.wustl.edu 37 5 52358720 52358720 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002203.3 +1 reviewed p.K521N 1.000 211 0% 188 35.6% 1 100% probably_damaging(1) tolerated(0.52) deleterious(0.508) HMMPfam_FG-GAP,HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain ITGA2 3673 genome.wustl.edu 37 5 52370272 52370272 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002203.3 +1 reviewed p.D877N 0.002 133 0% 92 28.3% 6 33.3% benign(0.001) tolerated(1) - HMMPfam_Integrin_alpha2,superfamily_Integrin domains ITGA2 3673 genome.wustl.edu 37 5 52379187 52379187 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002203.3 +1 reviewed p.S1054 0.088 102 0% 97 34% 3 0% - - - HMMPfam_Integrin_alpha2,superfamily_Integrin domains NDUFS4 4724 genome.wustl.edu 37 5 52942095 52942095 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002495.2 +1 reviewed p.E70D 1.000 100 0% 62 21% 94 23.4% unknown(0) - - NULL ESM1 11082 genome.wustl.edu 37 5 54277948 54277948 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007036.4 -1 reviewed p.D110Y 1.000 160 0% 71 33.8% 4 0% possibly_damaging(0.805) deleterious(0) deleterious(0.748) NULL CDC20B 166979 genome.wustl.edu 37 5 54423137 54423137 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152623.2 -1 validated p.G313S 1.000 452 0% 286 26.9% 18 38.8% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMSmart_WD40,superfamily_WD40_like GPX8 493869 genome.wustl.edu 37 5 54456219 54456219 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001008397.2 +1 validated p.G67C 1.000 140 0% 61 37.7% 27 25.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GSHPx,superfamily_Thioredoxin-like SKIV2L2 23517 genome.wustl.edu 37 5 54603976 54603976 + Splice_Site SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015360.4 +1 validated e1+1 1.000 144 0% 101 28.7% 0 - - - - - SKIV2L2 23517 genome.wustl.edu 37 5 54649009 54649009 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015360.4 +1 validated p.T482M 1.000 209 0% 135 25.2% 27 7.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Helicase_C,HMMSmart_HELICc,superfamily_SSF52540 SLC38A9 153129 genome.wustl.edu 37 5 54941657 54941657 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173514.2 -1 validated p.I376T 1.000 144 0% 114 29.8% 5 80% possibly_damaging(0.675) deleterious(0.01) deleterious(0.645) NULL DDX4 54514 genome.wustl.edu 37 5 55111154 55111154 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024415.2 +1 validated p.V667A 1.000 302 0.3% 165 26.1% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) superfamily_P-loop containing nucleoside triphosphate hydrolases DDX4 54514 genome.wustl.edu 37 5 55112333 55112333 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024415.2 +1 validated p.A714T 0.960 90 0% 55 25.5% 0 - benign(0) tolerated(0.15) neutral(0.241) NULL IL6ST 3572 genome.wustl.edu 37 5 55247296 55247296 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002184.2 -1 reviewed p.K612 1.000 331 0% 245 25.7% 33 42.4% - - - superfamily_Fibronectin type III MAP3K1 4214 genome.wustl.edu 37 5 56171084 56171084 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005921.1 +1 validated p.V638I 1.000 242 0% 160 25.6% 13 46.1% benign(0.296) tolerated(0.17) neutral(0.150) NULL PLK2 10769 genome.wustl.edu 37 5 57751418 57751418 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006622.2 -1 validated p.V525I 0.997 82 0% 47 42.6% 62 37% benign(0.115) tolerated(0.14) neutral(0.259) HMMPfam_POLO_box,superfamily_SSF82615 GAPT 202309 genome.wustl.edu 37 5 57790711 57790711 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152687.2 +1 provisional p.G116 0.004 436 0% 292 28.1% 2 0% - - - NULL ERCC8 1161 genome.wustl.edu 37 5 60186764 60186764 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000082.3 -1 reviewed p.K331N 1.000 152 0% 83 15.7% 7 14.2% benign(0.004) tolerated(0.23) neutral(0.042) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 RNF180 285671 genome.wustl.edu 37 5 63507898 63507898 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001113561.1 +1 validated p.D48N 0.007 241 0% 152 27% 0 - benign(0) tolerated(1) - NULL RNF180 285671 genome.wustl.edu 37 5 63509984 63509984 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001113561.1 +1 validated p.S277 0.942 394 0.3% 279 26.5% 1 100% - - - NULL CWC27 10283 genome.wustl.edu 37 5 64272995 64272995 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005869.2 +1 validated p.L396I 1.000 305 0% 199 25.6% 42 33.3% possibly_damaging(0.829) deleterious(0.01) deleterious(0.720) NULL MAST4 375449 genome.wustl.edu 37 5 66462738 66462738 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000443808 +1 known p.R1634C 0.000 27 0% 16 43.8% 4 100% - - - NULL SLC30A5 64924 genome.wustl.edu 37 5 68417562 68417562 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022902.2 +1 provisional p.I537 1.000 70 0% 47 21.3% 130 43.8% - - - HMMPfam_Cation_efflux CDK7 1022 genome.wustl.edu 37 5 68572953 68572953 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001799.3 +1 validated p.L344 0.985 259 0% 202 38.6% 115 42.6% - - - NULL RAD17 5884 genome.wustl.edu 37 5 68687705 68687705 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133339.1 +1 reviewed p.D363N 0.997 362 0% 268 26.5% 20 50% benign(0.123) tolerated(0.64) neutral(0.013) HMMPfam_Rad17 RAD17 5884 genome.wustl.edu 37 5 68695962 68695962 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133339.1 +1 reviewed p.Y564* 1.000 156 0% 89 30.3% 40 32.5% - - - HMMPfam_Rad17 OCLN 100506658 genome.wustl.edu 37 5 68805534 68805534 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002538.2 +1 reviewed p.S206Y 1.000 289 0.3% 168 13.7% 27 25.9% probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_MARVEL GTF2H2D 730394 genome.wustl.edu 37 5 68875589 68875589 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001042490.3 +1 provisional p.Y219H 1.000 473 0.4% 335 29% 45 42.2% benign(0.045) tolerated(0.08) neutral(0.302) HMMSmart_SM00327,HMMPfam_Ssl1,superfamily_vWA-like BDP1 55814 genome.wustl.edu 37 5 70800558 70800558 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018429.2 +1 reviewed p.K784N 0.000 206 0% 114 31.6% 4 0% benign(0.132) deleterious(0.01) neutral(0.417) NULL MRPS27 23107 genome.wustl.edu 37 5 71516976 71516976 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015084.2 -1 reviewed e11-1 0.892 499 0.6% 354 27.4% 4 100% - - - - PTCD2 79810 genome.wustl.edu 37 5 71627137 71627137 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024754.3 +1 validated p.L135I 0.258 369 0% 234 29.5% 11 36.3% benign(0.216) tolerated(0.08) neutral(0.321) NULL TNPO1 3842 genome.wustl.edu 37 5 72151605 72151605 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002270.3 +1 reviewed p.E70 1.000 67 0% 40 22.5% 36 36.1% - - - HMMPfam_IBN_N,superfamily_ARM repeat TMEM171 134285 genome.wustl.edu 37 5 72419492 72419492 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173490.6 +1 validated p.D98N 0.835 87 0% 40 22.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ENC1 8507 genome.wustl.edu 37 5 73931821 73931821 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003633.2 -1 validated p.L164M 1.000 257 0% 124 27.4% 34 52.9% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_BACK GFM2 84340 genome.wustl.edu 37 5 74034435 74034435 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032380.3 -1 reviewed p.A371V 1.000 428 0% 303 24.4% 59 38.9% possibly_damaging(0.585) tolerated(0.32) neutral(0.226) superfamily_Translation proteins HMGCR 3156 genome.wustl.edu 37 5 74650897 74650897 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000859.2 +1 reviewed p.C527Y 1.000 173 0.6% 123 28.5% 50 44% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HMG-CoA_red,superfamily_Substrate-binding domain of HMG-CoA reductase COL4A3BP 10087 genome.wustl.edu 37 5 74675210 74675210 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000508809 -1 known p.R114C 0.961 102 0% 64 35.9% 41 46.3% - - - HMMPfam_START,superfamily_Bet v1-like COL4A3BP 10087 genome.wustl.edu 37 5 74681816 74681816 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130105.1 -1 reviewed p.P571H 1.000 74 0% 52 23.1% 23 69.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_START,HMMSmart_START,superfamily_SSF55961 SV2C 22987 genome.wustl.edu 37 5 75427752 75427752 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014979.1 +1 provisional p.Y59 0.995 244 0% 174 29.3% 0 - - - - superfamily_MFS_gen_substrate_transporter IQGAP2 10788 genome.wustl.edu 37 5 75886280 75886280 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006633.2 +1 validated p.A230S 0.959 534 0% 362 25.4% 7 57.1% benign(0.378) tolerated(0.6) neutral(0.125) NULL ARSB 411 genome.wustl.edu 37 5 78260273 78260273 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000046.3 -1 reviewed p.A219D 1.000 151 0% 79 25.3% 5 60% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core ENSG00000214890 0 genome.wustl.edu 37 5 78296741 78296741 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000399189 -1 known p.P38H 0.011 137 0% 79 40.5% 0 - - - - NULL PAPD4 167153 genome.wustl.edu 37 5 78981049 78981049 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001114393.1 +1 validated p.D470Y 1.000 159 0% 90 26.7% 41 43.9% probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_PAP/OAS1 substrate-binding domain MTX3 345778 genome.wustl.edu 37 5 79282820 79282820 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001010891.4 -1 validated p.R231H 0.734 174 0% 100 27% 7 28.5% benign(0.036) tolerated(0.17) neutral(0.061) superfamily_Glutathione S-transferase (GST) C-terminal domain ZFYVE16 9765 genome.wustl.edu 37 5 79734181 79734181 + Silent SNP G G A rs183972431 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001105251.1 +1 validated p.S559 0.000 204 0% 144 16% 3 33.3% - - - NULL ATG10 83734 genome.wustl.edu 37 5 81549236 81549236 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001131028.1 +1 validated p.V219I 0.000 189 0% 114 36.8% 12 50% benign(0.074) deleterious(0) neutral(0.450) NULL XRCC4 7518 genome.wustl.edu 37 5 82499528 82499528 + Splice_Site SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022406.2 +1 reviewed e4+2 1.000 155 0% 110 30% 0 - - - - - VCAN 1462 genome.wustl.edu 37 5 82786179 82786179 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004385.4 +1 reviewed p.G111 0.010 238 0% 151 27.2% 0 - - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin VCAN 1462 genome.wustl.edu 37 5 82789719 82789719 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004385.4 +1 reviewed p.Y239 0.397 188 0% 140 37.1% 2 0% - - - HMMPfam_Xlink,HMMSmart_SM00445,superfamily_C-type lectin-like VCAN 1462 genome.wustl.edu 37 5 82808067 82808067 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004385.4 +1 reviewed p.W298* 1.000 62 0% 25 40% 2 0% - - - HMMPfam_Xlink,HMMSmart_SM00445,PatternScan_LINK_1,superfamily_C-type lectin-like VCAN 1462 genome.wustl.edu 37 5 82833950 82833950 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004385.4 +1 reviewed p.D1710Y 0.001 331 0% 248 25.4% 2 0% probably_damaging(0.97) - - NULL VCAN 1462 genome.wustl.edu 37 5 82835517 82835517 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004385.4 +1 reviewed p.S2232N 0.000 362 0.3% 277 30% 1 0% benign(0.397) - - NULL EDIL3 10085 genome.wustl.edu 37 5 83360549 83360549 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005711.3 -1 reviewed p.R308* 0.999 221 0% 129 25.6% 4 0% - - - HMMPfam_F5_F8_type_C,HMMSmart_SM00231,PatternScan_FA58C_2,superfamily_Galactose-binding domain-like EDIL3 10085 genome.wustl.edu 37 5 83362385 83362385 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005711.3 -1 reviewed p.T231I 1.000 247 0% 164 29.9% 3 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_F5_F8_type_C,HMMSmart_SM00231,PatternScan_FA58C_1,superfamily_Galactose-binding domain-like COX7C 1350 genome.wustl.edu 37 5 85915192 85915192 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001867.2 +1 reviewed p.N33S 1.000 197 0.5% 129 23.3% 777 41.9% possibly_damaging(0.728) deleterious(0) deleterious(0.710) HMMPfam_COX7C,superfamily_Mitochondrial cytochrome c oxidase subunit VIIc (aka VIIIa) RASA1 5921 genome.wustl.edu 37 5 86679582 86679582 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002890.1 +1 reviewed p.F915L 1.000 170 0% 123 30.1% 20 25% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMPfam_RasGAP,HMMSmart_SM00323,superfamily_GTPase activation domain GAP RASA1 5921 genome.wustl.edu 37 5 86682692 86682692 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002890.1 +1 reviewed p.R966H 1.000 214 0% 155 28.4% 27 48.1% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00323,superfamily_GTPase activation domain GAP CCNH 902 genome.wustl.edu 37 5 86700721 86700721 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001239.2 -1 reviewed p.S210F 1.000 246 0% 169 29% 18 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Cyclin_like CCNH 902 genome.wustl.edu 37 5 86700748 86700748 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001239.2 -1 reviewed p.T201M 1.000 282 0% 176 30.1% 23 56.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Cyclin_like TMEM161B 153396 genome.wustl.edu 37 5 87494938 87494938 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153354.3 -1 provisional p.R315Q 1.000 53 0% 48 39.6% 20 30% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Tmemb_161AB MEF2C 4208 genome.wustl.edu 37 5 88057075 88057075 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002397.3 -1 validated p.S110I 1.000 308 0% 208 35.1% 2 0% benign(0.074) deleterious(0) neutral(0.450) NULL LYSMD3 116068 genome.wustl.edu 37 5 89821085 89821085 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198273.1 -1 validated p.R8C 0.713 108 0% 62 38.7% 9 66.6% benign(0.155) tolerated(0.13) neutral(0.266) NULL GPR98 84059 genome.wustl.edu 37 5 89923545 89923545 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032119.3 +1 reviewed p.S397I 1.000 211 0% 157 33.1% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL GPR98 84059 genome.wustl.edu 37 5 89949306 89949306 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000504142 +1 known p.W894R 0.613 132 0% 74 21.6% 1 0% - - - NULL GPR98 84059 genome.wustl.edu 37 5 89977258 89977258 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032119.3 +1 reviewed p.T1884I 1.000 123 0% 76 35.5% 0 - possibly_damaging(0.76) tolerated(0.13) deleterious(0.534) HMMSmart_SM00237 GPR98 84059 genome.wustl.edu 37 5 89979786 89979786 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032119.3 +1 reviewed p.A2016 1.000 153 0% 108 13.9% 0 - - - - HMMPfam_Calx-beta,HMMSmart_SM00237 GPR98 84059 genome.wustl.edu 37 5 90101157 90101157 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032119.3 +1 reviewed p.H4906 0.002 168 0% 100 32% 2 100% - - - NULL GPR98 84059 genome.wustl.edu 37 5 90106221 90106221 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032119.3 +1 reviewed p.S5048 0.998 114 0% 73 15.1% 2 50% - - - HMMPfam_Calx-beta,HMMSmart_SM00237 ARRDC3 57561 genome.wustl.edu 37 5 90669614 90669614 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020801.2 -1 validated p.R359W 1.000 285 0.4% 172 23.8% 45 57.7% possibly_damaging(0.862) deleterious(0.02) deleterious(0.716) NULL ARRDC3 57561 genome.wustl.edu 37 5 90670759 90670759 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020801.2 -1 validated p.R284C 1.000 198 0% 103 22.3% 37 35.1% probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_Arrestin_C,superfamily_Ig_E-set FAM172A 83989 genome.wustl.edu 37 5 93388892 93388892 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032042.5 -1 validated p.K49N 1.000 145 0% 125 28.8% 4 0% probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL KIAA0825 285600 genome.wustl.edu 37 5 93856413 93856413 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001145678.1 -1 validated p.R170 0.998 109 0% 75 36% 2 100% - - - NULL ANKRD32 84250 genome.wustl.edu 37 5 94024292 94024292 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032290.3 +1 validated p.R735W 0.969 233 0% 156 35.9% 7 14.2% benign(0.032) tolerated(0.08) neutral(0.301) NULL MCTP1 79772 genome.wustl.edu 37 5 94259728 94259728 + Splice_Site SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024717.4 -1 validated e7-2 1.000 153 0% 86 22.1% 0 - - - - - TTC37 9652 genome.wustl.edu 37 5 94872824 94872824 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014639.2 -1 provisional p.A189T 1.000 182 0% 120 28.3% 6 16.6% probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_SSF48452 SPATA9 83890 genome.wustl.edu 37 5 94999693 94999693 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031952.3 -1 validated p.S146 1.000 100 0% 58 13.8% 1 0% - - - NULL GLRX 2745 genome.wustl.edu 37 5 95152294 95152294 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001118890.1 -1 validated p.G82R 0.989 296 0% 183 15.8% 13 23% possibly_damaging(0.774) deleterious(0) deleterious(0.733) superfamily_Thioredoxin-like GLRX 2745 genome.wustl.edu 37 5 95158271 95158271 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001118890.1 -1 validated p.I32 0.912 175 0% 95 31.6% 7 28.5% - - - HMMPfam_Glutaredoxin,PatternScan_GLUTAREDOXIN_1,superfamily_Thioredoxin-like PCSK1 5122 genome.wustl.edu 37 5 95735750 95735750 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000439.4 -1 reviewed p.A446V 1.000 215 0% 87 27.6% 0 - probably_damaging(0.967) deleterious(0.02) deleterious(0.792) superfamily_Pept_S8_S53 PCSK1 5122 genome.wustl.edu 37 5 95746544 95746544 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000439.4 -1 reviewed p.Y343 0.218 410 0% 240 33.3% 1 0% - - - HMMPfam_Peptidase_S8,superfamily_Pept_S8_S53 CAST 831 genome.wustl.edu 37 5 96077014 96077014 + Silent SNP C C T rs191204602 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000512620 +1 known p.T255I 0.998 173 0% 114 13.2% 52 21.1% - - - HMMPfam_Calpain_inhib RIOK2 55781 genome.wustl.edu 37 5 96503656 96503656 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018343.2 -1 validated p.G304 0.993 271 0% 183 24% 37 35.1% - - - NULL CHD1 1105 genome.wustl.edu 37 5 98205465 98205465 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001270.2 -1 reviewed p.D1367G 1.000 126 0% 73 28.8% 14 64.2% possibly_damaging(0.85) tolerated(0.4) neutral(0.343) NULL CHD1 1105 genome.wustl.edu 37 5 98236642 98236642 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001270.2 -1 reviewed p.E244 1.000 231 0% 164 27.4% 7 71.4% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases SLCO6A1 133482 genome.wustl.edu 37 5 101755694 101755694 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173488.3 -1 validated p.G436 0.800 181 0% 167 27.5% 0 - - - - HMMPfam_OATP,superfamily_MFS general substrate transporter PAM 5066 genome.wustl.edu 37 5 102203060 102203060 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000919.3 +1 reviewed p.A58V 0.994 186 0% 103 31.1% 167 43.1% unknown(0) tolerated(0.09) - HMMPfam_Cu2_monooxygen,superfamily_PHM_PNGase_F PPIP5K2 23262 genome.wustl.edu 37 5 102494919 102494919 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015216.2 +1 provisional p.G603S 1.000 583 0% 491 13.2% 15 26.6% benign(0.108) deleterious(0.01) neutral(0.414) HMMPfam_Acid_phosphat_A,superfamily_SSF53254 FBXL17 64839 genome.wustl.edu 37 5 107197454 107197454 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000359660 -1 known p.G293 1.000 59 0% 41 14.6% 19 36.8% - - - NULL FER 2241 genome.wustl.edu 37 5 108233491 108233491 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005246.2 +1 reviewed p.G393E 1.000 252 0% 142 27.5% 1 100% possibly_damaging(0.49) tolerated(0.1) neutral(0.450) NULL LOC100287867 100287867 genome.wustl.edu 37 5 108784164 108784164 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002342547.1 -1 model p.I19 0.754 112 0% 55 23.6% 0 - - - - NULL MAN2A1 4124 genome.wustl.edu 37 5 109049264 109049264 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002372.2 +1 reviewed p.R60H 1.000 423 0% 301 26.2% 4 50% benign(0.026) tolerated(0.19) neutral(0.051) NULL MAN2A1 4124 genome.wustl.edu 37 5 109106077 109106077 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002372.2 +1 reviewed p.I344S 1.000 315 0% 247 17.4% 11 9% possibly_damaging(0.798) deleterious(0) deleterious(0.745) HMMPfam_Glyco_hydro_38,superfamily_Glyco_hydro/deAcase_b/a-brl SLC25A46 91137 genome.wustl.edu 37 5 110097061 110097061 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138773.1 +1 provisional p.S279I 1.000 654 0% 535 26% 25 56% benign(0.167) deleterious(0.03) neutral(0.380) superfamily_Mitochondrial carrier WDR36 134430 genome.wustl.edu 37 5 110456794 110456794 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_139281.2 +1 reviewed p.L757 0.971 348 0% 260 23.1% 25 32% - - - HMMPfam_Utp21 NREP 9315 genome.wustl.edu 37 5 111066713 111066713 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142475.1 -1 validated p.R82C 1.000 227 0% 149 30.9% 48 18.7% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL EPB41L4A 64097 genome.wustl.edu 37 5 111541127 111541127 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022140.3 -1 validated p.G418D 0.520 1327 0% 909 13.5% 5 20% probably_damaging(0.955) deleterious(0.01) deleterious(0.804) NULL APC 324 genome.wustl.edu 37 5 112090597 112090597 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000038.4 +1 reviewed p.A4T 1.000 206 0% 138 27.5% 0 - possibly_damaging(0.607) deleterious(0) deleterious(0.655) NULL APC 324 genome.wustl.edu 37 5 112116596 112116596 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000038.4 +1 reviewed p.A214V 1.000 87 0% 63 30.2% 2 0% benign(0.016) tolerated(0.13) neutral(0.253) superfamily_ARM repeat APC 324 genome.wustl.edu 37 5 112128191 112128191 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000038.4 +1 reviewed p.R232* 1.000 228 0.4% 134 27.6% 2 50% - - - superfamily_ARM repeat APC 324 genome.wustl.edu 37 5 112173647 112173647 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000038.4 +1 reviewed p.R786C 1.000 352 0.3% 229 24% 1 100% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL APC 324 genome.wustl.edu 37 5 112177096 112177096 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000038.4 +1 reviewed p.Q1935 0.997 494 0% 323 26.6% 5 100% - - - NULL ZRSR1 7310 genome.wustl.edu 37 5 112227938 112227938 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000391338 +1 known p.S201F 0.987 428 0% 283 27.2% 0 - probably_damaging(0.983) tolerated(0.11) deleterious(0.701) NULL ZRSR1 7310 genome.wustl.edu 37 5 112227947 112227947 + Frame_Shift_Del DEL C C - novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000391338 +1 known p.L205fs 1.000 - - - - - - - - - superfamily_SSF54928 ZRSR1 7310 genome.wustl.edu 37 5 112228056 112228056 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000391338 +1 known p.Q240 1.000 382 0% 225 13.8% 5 0% - - - HMMSmart_RRM,superfamily_SSF54928 ZRSR1 7310 genome.wustl.edu 37 5 112228483 112228483 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000391338 +1 known p.R383W 0.001 177 0% 131 26.7% 9 22.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL KCNN2 3781 genome.wustl.edu 37 5 113740188 113740188 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021614.2 +1 reviewed p.E212 1.000 736 0% 540 23.7% 7 28.5% - - - HMMPfam_SK_channel KCNN2 3781 genome.wustl.edu 37 5 113831612 113831612 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021614.2 +1 reviewed p.D491 1.000 361 0% 210 33.8% 10 40% - - - NULL KCNN2 3781 genome.wustl.edu 37 5 113831630 113831630 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021614.2 +1 reviewed p.N497 0.884 369 0.3% 226 10.6% 11 18.1% - - - NULL CCDC112 153733 genome.wustl.edu 37 5 114607034 114607034 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001040440.2 -1 validated p.S403I 0.003 574 0% 329 31.3% 14 57.1% benign(0.079) tolerated(0.13) neutral(0.258) NULL FEM1C 56929 genome.wustl.edu 37 5 114861119 114861119 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020177.2 -1 validated p.A247D 1.000 369 0% 303 10.6% 9 11.1% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ANK AQPEP 206338 genome.wustl.edu 37 5 115298511 115298511 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173800.4 +1 validated p.P66L 0.000 51 0% 32 18.8% 0 - benign(0.003) tolerated(0.22) neutral(0.042) NULL AQPEP 206338 genome.wustl.edu 37 5 115298704 115298704 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173800.4 +1 validated p.R130 0.996 111 0% 51 27.5% 0 - - - - HMMPfam_Peptidase_M1,superfamily_Leukotriene A4 hydrolase N-terminal domain AQPEP 206338 genome.wustl.edu 37 5 115298805 115298805 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173800.4 +1 validated p.P164L 0.000 42 0% 30 23.3% 0 - benign(0) tolerated(0.35) neutral(0.021) HMMPfam_Peptidase_M1,superfamily_Leukotriene A4 hydrolase N-terminal domain AQPEP 206338 genome.wustl.edu 37 5 115320356 115320356 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173800.4 +1 validated p.F310I 0.933 225 0% 159 27.7% 0 - benign(0.136) deleterious(0.01) neutral(0.417) HMMPfam_Peptidase_M1,superfamily_Leukotriene A4 hydrolase N-terminal domain DMXL1 1657 genome.wustl.edu 37 5 118484659 118484659 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005509.4 +1 validated p.P1046H 1.000 550 0.2% 355 25.9% 4 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL DMXL1 1657 genome.wustl.edu 37 5 118485683 118485683 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005509.4 +1 validated p.Q1387 1.000 246 0% 170 23.5% 4 25% - - - NULL HSD17B4 3295 genome.wustl.edu 37 5 118867063 118867063 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000414.2 +1 reviewed p.H653Y 1.000 187 0% 122 26.2% 101 18.8% possibly_damaging(0.502) deleterious(0.04) deleterious(0.516) HMMPfam_SCP2,superfamily_SCP2 SRFBP1 153443 genome.wustl.edu 37 5 121355908 121355908 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152546.2 +1 validated p.R160C 0.003 286 0% 212 28.3% 13 61.5% possibly_damaging(0.494) deleterious(0.04) deleterious(0.513) NULL ZNF474 133923 genome.wustl.edu 37 5 121488147 121488147 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207317.1 +1 provisional p.N154 0.654 244 0% 119 14.3% 5 20% - - - NULL SNCAIP 9627 genome.wustl.edu 37 5 121780326 121780326 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005460.2 +1 reviewed p.A497 0.016 234 0% 137 29.2% 3 0% - - - superfamily_ANK SNX2 6643 genome.wustl.edu 37 5 122165293 122165293 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003100.2 +1 reviewed p.L504 1.000 184 0.5% 111 25.2% 146 39% - - - HMMPfam_Vps5 CEP120 153241 genome.wustl.edu 37 5 122722327 122722327 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153223.3 -1 reviewed p.I489V 1.000 157 0% 111 36.9% 12 58.3% benign(0.093) tolerated(0.22) neutral(0.049) NULL CEP120 153241 genome.wustl.edu 37 5 122734898 122734898 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153223.3 -1 reviewed p.P182S 1.000 179 0% 119 31.9% 5 100% probably_damaging(0.998) tolerated(0.24) deleterious(0.512) NULL ZNF608 57507 genome.wustl.edu 37 5 123982665 123982665 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020747.2 -1 validated p.L1138M 1.000 277 0% 170 19.4% 1 0% benign(0.293) tolerated(0.17) neutral(0.149) NULL ZNF608 57507 genome.wustl.edu 37 5 123983267 123983267 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020747.2 -1 validated p.P937L 1.000 248 0% 118 12.7% 4 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MEGF10 84466 genome.wustl.edu 37 5 126746129 126746129 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032446.2 +1 validated p.E322D 0.997 64 0% 30 36.7% 0 - benign(0.151) tolerated(0.35) neutral(0.034) HMMSmart_SM00181,superfamily_EGF/Laminin PRRC1 133619 genome.wustl.edu 37 5 126860276 126860276 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_130809.3 +1 validated p.P53S 0.631 640 0.2% 388 24.5% 48 29.1% possibly_damaging(0.485) tolerated(0.14) neutral(0.410) NULL CTXN3 613212 genome.wustl.edu 37 5 126993391 126993391 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001048252.2 +1 validated p.P60S 1.000 241 0% 151 20.5% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL SLC12A2 6558 genome.wustl.edu 37 5 127485785 127485785 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001046.2 +1 validated p.S701Y 1.000 166 0% 133 22.6% 17 41.1% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_AA_permease SLC12A2 6558 genome.wustl.edu 37 5 127486939 127486939 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001046.2 +1 validated p.R705H 1.000 294 0% 188 25.5% 18 22.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AA_permease SLC12A2 6558 genome.wustl.edu 37 5 127497480 127497480 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001046.2 +1 validated p.Q868H 1.000 106 0% 79 30.4% 21 38% benign(0.12) tolerated(0.13) neutral(0.262) NULL FBN2 2201 genome.wustl.edu 37 5 127614480 127614480 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001999.3 -1 reviewed p.A2398T 1.000 178 0% 110 25.5% 0 - benign(0.001) tolerated(0.55) neutral(0.007) HMMPfam_TB,superfamily_TB module/8-cys domain,superfamily_Concanavalin A-like lectins/glucanases FBN2 2201 genome.wustl.edu 37 5 127644942 127644942 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001999.3 -1 reviewed p.T1784A 1.000 128 0% 69 27.5% 0 - benign(0.419) deleterious(0.01) deleterious(0.542) HMMPfam_TB,superfamily_TB module/8-cys domain,superfamily_Concanavalin A-like lectins/glucanases FBN2 2201 genome.wustl.edu 37 5 127668661 127668661 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001999.3 -1 reviewed p.G1389* 1.000 642 0.2% 431 27.6% 0 - - - - PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin FBN2 2201 genome.wustl.edu 37 5 127685059 127685059 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001999.3 -1 reviewed p.G990V 1.000 192 0% 110 13.6% 0 - benign(0.002) tolerated(0.3) neutral(0.029) HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA FBN2 2201 genome.wustl.edu 37 5 127686618 127686618 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001999.3 -1 reviewed p.S918 0.014 177 0% 105 22.9% 2 0% - - - HMMPfam_TB,superfamily_TB module/8-cys domain,superfamily_Concanavalin A-like lectins/glucanases ISOC1 51015 genome.wustl.edu 37 5 128448554 128448554 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016048.2 +1 validated p.A253T 1.000 476 0.2% 286 16.4% 53 24.5% benign(0.19) tolerated(0.4) neutral(0.034) HMMPfam_Isochorismatase,superfamily_Iscrsm_hydrolase ADAMTS19 171019 genome.wustl.edu 37 5 129037220 129037220 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133638.3 +1 reviewed p.A1026T 0.107 126 0% 68 27.9% 16 37.5% benign(0.005) tolerated(0.67) neutral(0.003) HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat LYRM7 90624 genome.wustl.edu 37 5 130535229 130535229 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000507584 +1 known p.W56* 1.000 91 0% 45 26.7% 12 58.3% - - - NULL FNIP1 96459 genome.wustl.edu 37 5 131007613 131007613 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133372.2 -1 validated p.D842N 1.000 460 0.2% 264 17.8% 7 42.8% possibly_damaging(0.602) tolerated(0.89) neutral(0.208) NULL P4HA2 8974 genome.wustl.edu 37 5 131531143 131531143 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142599.1 -1 reviewed p.V468I 1.000 130 0% 75 26.7% 45 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_2OG-FeII_Oxy,HMMSmart_SM00702 KIF3A 11127 genome.wustl.edu 37 5 132051511 132051511 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007054.5 -1 validated p.K356M 1.000 130 0% 92 31.5% 5 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases SEPT8 23176 genome.wustl.edu 37 5 132096635 132096635 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098811.1 -1 validated p.R382H 1.000 271 0% 128 28.1% 20 40% possibly_damaging(0.579) deleterious(0.04) deleterious(0.548) NULL AFF4 27125 genome.wustl.edu 37 5 132219089 132219089 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014423.3 -1 validated p.F1103V 1.000 87 0% 57 10.5% 8 25% probably_damaging(0.978) tolerated(1) neutral(0.420) HMMPfam_AF-4 AFF4 27125 genome.wustl.edu 37 5 132232071 132232071 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014423.3 -1 validated p.E751* 1.000 279 0.4% 182 30.2% 5 40% - - - HMMPfam_AF-4 HSPA4 3308 genome.wustl.edu 37 5 132403232 132403232 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002154.3 +1 validated p.G97* 1.000 339 0% 190 28.9% 64 0% - - - HMMPfam_HSP70,superfamily_SSF53067 PHF15 23338 genome.wustl.edu 37 5 133887825 133887825 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015288.4 +1 provisional p.D79E 1.000 158 0% 92 39.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_EPL1 SEC24A 10802 genome.wustl.edu 37 5 134041086 134041086 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021982.1 +1 validated p.G837E 1.000 239 0% 145 25.5% 34 29.4% probably_damaging(0.988) tolerated(0.07) deleterious(0.756) superfamily_beta-sandwich domain of Sec23/24 PITX1 5307 genome.wustl.edu 37 5 134364717 134364717 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002653.4 -1 reviewed p.A233T 1.000 65 0% 31 35.5% 4 50% possibly_damaging(0.919) tolerated(0.39) neutral(0.386) NULL H2AFY 9555 genome.wustl.edu 37 5 134705221 134705221 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138610.2 -1 reviewed p.R118W 1.000 215 0.5% 110 29.1% 267 34.8% benign(0.017) deleterious(0) neutral(0.445) HMMSmart_SM00414,superfamily_Histone-fold FBXL21 26223 genome.wustl.edu 37 5 135276176 135276176 + Splice_Site SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000467490 +1 known NULL 0.998 58 0% 55 32.7% 0 - - - - - TGFBI 7045 genome.wustl.edu 37 5 135397231 135397231 + Missense_Mutation SNP C C T rs188333040 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000358.2 +1 reviewed p.A650V 0.986 80 0% 48 29.2% 63 0% possibly_damaging(0.822) deleterious(0.02) deleterious(0.694) NULL SMAD5 4090 genome.wustl.edu 37 5 135508329 135508329 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000398807 +1 known p.R328* 0.649 213 0% 178 29.8% 15 26.6% - - - HMMPfam_MH2,HMMSmart_SM00524,superfamily_SMAD/FHA domain KLHL3 26249 genome.wustl.edu 37 5 137013258 137013258 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017415.2 -1 validated p.K204N 1.000 296 0% 150 25.3% 0 - benign(0.008) tolerated(0.34) neutral(0.023) HMMPfam_BACK MYOT 9499 genome.wustl.edu 37 5 137206516 137206516 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006790.2 +1 reviewed p.S59I 1.000 546 0% 380 15.5% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL PKD2L2 27039 genome.wustl.edu 37 5 137228280 137228280 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014386.2 +1 validated p.R82H 0.101 165 0% 118 15.3% 0 - probably_damaging(0.976) deleterious(0.02) deleterious(0.801) HMMPfam_PKD_channel BRD8 10902 genome.wustl.edu 37 5 137486559 137486559 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_139199.1 -1 reviewed p.E999K 0.004 339 0% 181 32.6% 0 - benign(0.016) tolerated(0.06) neutral(0.323) NULL CDC23 8697 genome.wustl.edu 37 5 137537104 137537104 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004661.3 -1 reviewed p.A150V 0.998 236 0% 146 28.1% 19 57.8% benign(0) tolerated(0.38) neutral(0.018) HMMPfam_APC8,superfamily_TPR-like GFRA3 2676 genome.wustl.edu 37 5 137600153 137600153 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001496.3 -1 reviewed p.A59D 0.492 124 0% 61 24.6% 1 100% probably_damaging(0.958) deleterious(0.04) deleterious(0.750) HMMPfam_GDNF,superfamily_GDNF receptor-like (Pfam 02351) KDM3B 51780 genome.wustl.edu 37 5 137727622 137727622 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016604.3 +1 validated p.N767 0.719 548 0% 280 15.7% 29 20.6% - - - NULL KDM3B 51780 genome.wustl.edu 37 5 137765589 137765589 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016604.3 +1 validated p.P1610T 1.000 98 0% 55 14.5% 43 25.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00558,HMMPfam_JmjC,superfamily_Clavaminate synthase-like ETF1 2107 genome.wustl.edu 37 5 137844068 137844068 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004730.2 -1 validated p.R414W 1.000 91 0% 50 18% 127 48.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_eRF1_3,superfamily_L30e-like SLC23A1 9963 genome.wustl.edu 37 5 138707928 138707928 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152685.3 -1 reviewed p.R526C 1.000 201 0% 114 32.5% 6 0% unknown(0) deleterious(0) - NULL CXXC5 51523 genome.wustl.edu 37 5 139060383 139060383 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016463.7 +1 provisional p.G92D 0.926 22 0% 12 41.7% 20 40% unknown(0) deleterious(0) - NULL PSD2 84249 genome.wustl.edu 37 5 139216781 139216781 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032289.2 +1 provisional p.K541N 1.000 69 0% 29 17.2% 0 - benign(0.113) tolerated(0.12) neutral(0.270) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like NRG2 9542 genome.wustl.edu 37 5 139231242 139231242 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000378238 -1 known p.A427T 0.990 51 0% 22 40.9% 0 - - - - NULL SLC4A9 83697 genome.wustl.edu 37 5 139742557 139742557 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031467.2 +1 validated p.A290S 1.000 261 0% 138 29% 0 - possibly_damaging(0.903) deleterious(0.04) deleterious(0.707) HMMPfam_Band_3_cyto,superfamily_PTrfase/Anion_transptr ANKHD1-EIF4EBP3 404734 genome.wustl.edu 37 5 139876838 139876838 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020690.4 +1 reviewed p.T993 1.000 351 0% 253 30.4% 26 38.4% - - - superfamily_ANK ANKHD1-EIF4EBP3 404734 genome.wustl.edu 37 5 139889653 139889653 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020690.4 +1 reviewed p.L1331 1.000 252 0% 178 32% 20 50% - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ANKHD1-EIF4EBP3 404734 genome.wustl.edu 37 5 139908215 139908215 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020690.4 +1 reviewed p.P1895H 1.000 300 0% 194 11.3% 52 21.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL APBB3 10307 genome.wustl.edu 37 5 139940234 139940234 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006051.3 -1 reviewed p.H348R 0.703 66 1.5% 34 41.2% 7 28.5% benign(0.005) tolerated(0.35) neutral(0.021) HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like APBB3 10307 genome.wustl.edu 37 5 139942297 139942297 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006051.3 -1 reviewed p.S101Y 0.958 137 0% 71 9.9% 4 25% possibly_damaging(0.44) deleterious(0.03) deleterious(0.508) NULL WDR55 54853 genome.wustl.edu 37 5 140047918 140047918 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017706.4 +1 validated p.Q97H 1.000 220 0% 91 31.9% 35 34.2% benign(0.23) tolerated(0.06) neutral(0.346) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 HARS 3035 genome.wustl.edu 37 5 140070841 140070841 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002109.3 -1 reviewed p.R17C 0.385 30 0% 21 47.6% 31 35.4% benign(0.002) tolerated(0.07) neutral(0.319) HMMPfam_WHEP-TRS,PatternScan_WHEP_TRS_1,superfamily_S15/NS1_bind ENSG00000249821 0 genome.wustl.edu 37 5 140165767 140165767 + RNA SNP G G A rs138966220 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000508944 -1 known NULL 0.000 47 0% 29 20.7% 0 - - - - - PCDHA7 56141 genome.wustl.edu 37 5 140215120 140215120 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018910.2 +1 reviewed p.Q384H 0.415 211 0% 105 31.4% 0 - benign(0.028) tolerated(0.05) neutral(0.347) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA7 56141 genome.wustl.edu 37 5 140215447 140215447 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018910.2 +1 reviewed p.S493 0.955 44 0% 25 40% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA8 56140 genome.wustl.edu 37 5 140221150 140221150 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018911.2 +1 reviewed p.G82C 1.000 184 0% 83 9.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHA8 56140 genome.wustl.edu 37 5 140222535 140222535 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018911.2 +1 reviewed p.P543 0.194 51 0% 32 15.6% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA8 56140 genome.wustl.edu 37 5 140222706 140222706 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018911.2 +1 reviewed p.D600 1.000 73 0% 37 32.4% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA9 9752 genome.wustl.edu 37 5 140230241 140230241 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031857.1 +1 reviewed p.L721M 0.989 73 0% 42 26.2% 0 - probably_damaging(0.991) tolerated(0.06) deleterious(0.766) NULL PCDHA10 56139 genome.wustl.edu 37 5 140236732 140236732 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018901.2 +1 reviewed p.V367I 0.013 134 0% 62 27.4% 0 - possibly_damaging(0.9) tolerated(0.08) deleterious(0.656) HMMPfam_Cadherin,superfamily_Cadherin-like PCDHA11 56138 genome.wustl.edu 37 5 140250375 140250375 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018902.3 +1 reviewed p.A563T 0.000 44 0% 28 35.7% 2 0% benign(0) tolerated(0.56) neutral(0.006) superfamily_Cadherin-like PCDHA13 56136 genome.wustl.edu 37 5 140262244 140262244 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018904.2 +1 reviewed p.P131S 1.000 304 0% 152 26.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHB1 29930 genome.wustl.edu 37 5 140431069 140431069 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013340.2 +1 reviewed p.R5H 0.011 76 0% 60 31.7% 0 - benign(0.016) tolerated(0.42) neutral(0.015) NULL PCDHB1 29930 genome.wustl.edu 37 5 140432673 140432673 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013340.2 +1 reviewed p.L540M 0.194 148 0% 59 25.4% 0 - benign(0.065) deleterious(0) neutral(0.449) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB2 56133 genome.wustl.edu 37 5 140474450 140474450 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018936.2 +1 reviewed p.A26T 0.000 131 0% 77 33.8% 0 - benign(0) tolerated(0.66) neutral(0.003) NULL PCDHB2 56133 genome.wustl.edu 37 5 140475190 140475190 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018936.2 +1 reviewed p.D272 0.091 221 0% 123 30.1% 4 0% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB3 56132 genome.wustl.edu 37 5 140481764 140481764 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018937.2 +1 reviewed p.G511S 0.990 237 0% 132 24.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHB3 56132 genome.wustl.edu 37 5 140482330 140482330 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018937.2 +1 reviewed p.S699 0.009 165 0% 98 57.1% 0 - - - - NULL PCDHB3 56132 genome.wustl.edu 37 5 140482368 140482368 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018937.2 +1 reviewed p.R712Q 0.021 140 0% 76 9.2% 0 - possibly_damaging(0.82) deleterious(0.01) deleterious(0.716) NULL PCDHB4 56131 genome.wustl.edu 37 5 140501661 140501661 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018938.2 +1 reviewed p.L27 0.000 105 0% 73 19.2% 0 - - - - NULL PCDHB5 26167 genome.wustl.edu 37 5 140516821 140516821 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015669.2 +1 reviewed p.S602L 1.000 112 0% 56 33.9% 1 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB17 54661 genome.wustl.edu 37 5 140536974 140536974 + RNA SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NR_001280.1 +1 provisional NULL 0.990 427 0.2% 206 21.4% 1 0% - - - - PCDHB7 56129 genome.wustl.edu 37 5 140552540 140552540 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018940.2 +1 reviewed p.G42C 0.883 139 0% 61 36.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHB8 56128 genome.wustl.edu 37 5 140558877 140558877 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019120.2 +1 reviewed p.T421I 0.936 468 0% 221 19% 1 0% benign(0.392) deleterious(0) deleterious(0.570) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB8 56128 genome.wustl.edu 37 5 140559400 140559400 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019120.2 +1 reviewed p.G595 0.406 85 0% 46 19.6% 5 20% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB10 56126 genome.wustl.edu 37 5 140573706 140573706 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018930.3 +1 reviewed p.F527 0.813 227 0.4% 114 19.3% 9 11.1% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB11 56125 genome.wustl.edu 37 5 140579592 140579592 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018931.2 +1 reviewed p.G82E 0.978 269 0% 127 26.8% 10 70% possibly_damaging(0.693) deleterious(0) deleterious(0.693) HMMSmart_CA,HMMPfam_Cadherin_2,superfamily_Cadherin PCDHB12 56124 genome.wustl.edu 37 5 140590000 140590000 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018932.3 +1 reviewed p.N507 0.710 253 0% 100 29% 3 0% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB13 56123 genome.wustl.edu 37 5 140594087 140594087 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018933.2 +1 reviewed p.S131Y 0.868 363 0% 180 10% 1 0% possibly_damaging(0.761) deleterious(0) deleterious(0.726) HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin PCDHB13 56123 genome.wustl.edu 37 5 140595513 140595513 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018933.2 +1 reviewed p.L606 0.999 134 0% 47 36.2% 1 0% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHB14 56122 genome.wustl.edu 37 5 140605458 140605458 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018934.2 +1 reviewed p.G794V 0.003 149 0.7% 79 27.8% 17 17.6% benign(0.003) tolerated(0.07) neutral(0.319) NULL ENSG00000251462 0 genome.wustl.edu 37 5 140621074 140621074 + RNA SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000503443 -1 known NULL 0.014 101 0% 57 49.1% 0 - - - - - PCDHB15 56121 genome.wustl.edu 37 5 140626837 140626837 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018935.2 +1 reviewed p.P564L 1.000 90 0% 40 35% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Cadherin PCDHB15 56121 genome.wustl.edu 37 5 140626986 140626986 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018935.2 +1 reviewed p.L614 0.995 59 0% 34 23.5% 9 0% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin SLC25A2 83884 genome.wustl.edu 37 5 140682845 140682845 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031947.2 -1 reviewed p.S196 0.000 369 0.3% 222 29.7% 0 - - - - superfamily_Mitoch_carrier,HMMPfam_Mito_carr SLC25A2 83884 genome.wustl.edu 37 5 140683404 140683404 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031947.2 -1 reviewed p.A10V 0.992 78 0% 36 13.9% 0 - benign(0.004) tolerated(1) - superfamily_Mitoch_carrier,HMMPfam_Mito_carr PCDHGA3 56112 genome.wustl.edu 37 5 140723799 140723799 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018916.3 +1 reviewed p.V67I 0.964 176 0% 101 26.7% 0 - benign(0.037) tolerated(0.29) neutral(0.031) HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHGB1 56104 genome.wustl.edu 37 5 140731694 140731694 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018922.2 +1 reviewed p.R623C 1.000 55 0% 33 21.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB2 56103 genome.wustl.edu 37 5 140740410 140740410 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018923.2 +1 reviewed p.N236 0.407 94 0% 64 29.7% 1 0% - - - HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHGA5 56110 genome.wustl.edu 37 5 140745868 140745868 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018918.2 +1 reviewed p.T657 0.106 113 0% 58 25.9% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA5 56110 genome.wustl.edu 37 5 140746179 140746179 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018918.2 +1 reviewed p.A761V 0.801 182 0% 99 13.1% 0 - benign(0.007) deleterious(0.03) neutral(0.364) NULL PCDHGB4 8641 genome.wustl.edu 37 5 140768192 140768192 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003736.2 +1 reviewed p.Y247 1.000 339 0% 170 22.9% 0 - - - - HMMPfam_Cadherin,superfamily_Cadherin-like PCDHGB4 8641 genome.wustl.edu 37 5 140768978 140768978 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003736.2 +1 reviewed p.S509 1.000 68 0% 42 28.6% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB5 56101 genome.wustl.edu 37 5 140778713 140778713 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018925.2 +1 reviewed p.S340N 0.000 235 0% 158 25.9% 0 - - - - HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHGB5 56101 genome.wustl.edu 37 5 140779362 140779362 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018925.2 +1 reviewed p.P556 0.000 39 0% 20 20% 0 - - - - HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHGA9 56107 genome.wustl.edu 37 5 140783747 140783747 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018921.2 +1 reviewed p.L410I 0.962 95 0% 61 27.9% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA9 56107 genome.wustl.edu 37 5 140784365 140784365 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018921.2 +1 reviewed p.L616I 0.955 164 0% 72 33.3% 1 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB6 56100 genome.wustl.edu 37 5 140788389 140788389 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018926.2 +1 reviewed p.S207Y 0.000 72 0% 22 18.2% 0 - benign(0.001) tolerated(1) - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB7 56099 genome.wustl.edu 37 5 140798225 140798225 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018927.2 +1 reviewed p.T267A 0.961 121 0% 49 42.9% 0 - possibly_damaging(0.74) deleterious(0.04) deleterious(0.620) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA11 56105 genome.wustl.edu 37 5 140801789 140801789 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018914.2 +1 reviewed p.T332M 0.017 168 0% 91 30.8% 0 - benign(0.152) deleterious(0.01) neutral(0.419) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA11 56105 genome.wustl.edu 37 5 140802601 140802601 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018914.2 +1 reviewed p.A603T 1.000 142 0% 50 34% 1 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGC4 56098 genome.wustl.edu 37 5 140864744 140864744 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018928.2 +1 reviewed p.L2I 0.997 136 0.7% 67 28.4% 0 - benign(0.066) tolerated(0.3) neutral(0.033) NULL PCDHGC4 56098 genome.wustl.edu 37 5 140865892 140865892 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018928.2 +1 reviewed p.D384 0.672 288 0% 121 24% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DIAPH1 1729 genome.wustl.edu 37 5 140958764 140958764 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005219.4 -1 reviewed e9-1 1.000 930 0.1% 486 28.4% 12 100% - - - - RELL2 285613 genome.wustl.edu 37 5 141018584 141018584 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130029.1 +1 validated p.S105T 1.000 45 0% 24 33.3% 1 0% possibly_damaging(0.631) tolerated(0.19) neutral(0.270) NULL FCHSD1 89848 genome.wustl.edu 37 5 141025711 141025711 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033449.1 -1 provisional p.E364D 0.471 38 0% 19 26.3% 4 50% benign(0.058) tolerated(0.34) neutral(0.026) NULL FCHSD1 89848 genome.wustl.edu 37 5 141028986 141028986 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033449.1 -1 provisional p.S117 0.994 388 0% 174 32.2% 1 100% - - - NULL ARAP3 64411 genome.wustl.edu 37 5 141049350 141049350 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022481.5 -1 reviewed p.A760T 0.999 541 0.6% 237 29.1% 0 - benign(0) tolerated(0.65) neutral(0.003) HMMSmart_PH,superfamily_SSF50729 ARAP3 64411 genome.wustl.edu 37 5 141052477 141052477 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022481.5 -1 reviewed p.W370* 1.000 114 0% 50 26% 0 - - - - HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 ARAP3 64411 genome.wustl.edu 37 5 141059328 141059328 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022481.5 -1 reviewed p.V196L 1.000 73 0% 32 31.2% 1 0% probably_damaging(0.968) deleterious(0.01) deleterious(0.816) NULL PCDH1 5097 genome.wustl.edu 37 5 141233876 141233876 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032420.2 -1 reviewed p.A1149T 1.000 43 0% 24 54.2% 17 35.2% benign(0.01) tolerated(0.16) neutral(0.060) NULL PCDH1 5097 genome.wustl.edu 37 5 141237022 141237022 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032420.2 -1 reviewed p.R1038 0.729 22 0.000 9 0.556 16 62.5% - - - NULL PCDH1 5097 genome.wustl.edu 37 5 141244070 141244070 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032420.2 -1 reviewed p.D609A 1.000 302 0% 148 28.4% 18 33.3% probably_damaging(0.996) tolerated(0.1) deleterious(0.748) HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin PCDH1 5097 genome.wustl.edu 37 5 141248805 141248805 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032420.2 -1 reviewed p.A78T 0.984 125 0% 47 27.7% 16 37.5% probably_damaging(0.998) tolerated(0.09) deleterious(0.771) HMMPfam_Cadherin_2,superfamily_Cadherin PCDH12 51294 genome.wustl.edu 37 5 141335349 141335349 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016580.2 -1 reviewed p.L690M 0.000 143 0% 51 37.3% 2 0% benign(0.002) tolerated(0.14) neutral(0.249) HMMSmart_CA,superfamily_Cadherin PCDH12 51294 genome.wustl.edu 37 5 141335351 141335351 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016580.2 -1 reviewed p.A689D 0.000 135 0.7% 49 20.4% 2 0% possibly_damaging(0.906) deleterious(0.01) deleterious(0.765) HMMSmart_CA,superfamily_Cadherin KCTD16 57528 genome.wustl.edu 37 5 143853420 143853420 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020768.3 +1 validated p.R344C 1.000 187 0% 137 35.8% 0 - probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL GRXCR2 643226 genome.wustl.edu 37 5 145252317 145252317 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080516.1 -1 provisional p.R72M 0.986 247 0% 156 23.1% 0 - benign(0.114) tolerated(0.08) neutral(0.309) NULL SH3RF2 153769 genome.wustl.edu 37 5 145439722 145439722 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152550.3 +1 validated p.P617S 1.000 355 0% 161 21.1% 3 0% possibly_damaging(0.566) tolerated(0.23) neutral(0.235) NULL PLAC8L1 153770 genome.wustl.edu 37 5 145477785 145477785 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001029869.1 -1 provisional p.A64T 0.000 122 0% 90 11.1% 2 50% benign(0.001) deleterious(0) neutral(0.445) NULL LARS 51520 genome.wustl.edu 37 5 145522543 145522543 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020117.9 -1 reviewed p.E661G 1.000 337 0% 249 28.5% 76 39.4% probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_Nucleotidylyl transferase RBM27 54439 genome.wustl.edu 37 5 145613225 145613225 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018989.1 +1 validated p.P355T 0.994 95 0% 65 44.6% 12 58.3% possibly_damaging(0.489) deleterious(0) deleterious(0.607) NULL RBM27 54439 genome.wustl.edu 37 5 145638113 145638113 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018989.1 +1 validated p.S566G 0.968 172 0% 116 25% 20 60% benign(0.077) tolerated(0.25) neutral(0.042) NULL TCERG1 10915 genome.wustl.edu 37 5 145834749 145834749 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006706.3 +1 reviewed p.R64W 0.999 251 0% 125 40.8% 38 44.7% unknown(0) deleterious(0.04) - NULL TCERG1 10915 genome.wustl.edu 37 5 145851115 145851115 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006706.3 +1 reviewed p.T526I 1.000 325 0% 186 29% 15 46.6% probably_damaging(0.976) deleterious(0) deleterious(0.863) NULL TCERG1 10915 genome.wustl.edu 37 5 145862161 145862161 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006706.3 +1 reviewed p.D631 0.282 286 0% 183 27.3% 13 46.1% - - - NULL TCERG1 10915 genome.wustl.edu 37 5 145890132 145890132 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006706.3 +1 reviewed p.V1075A 1.000 126 0% 85 17.6% 46 21.7% unknown(0) deleterious(0.01) - HMMSmart_SM00441 DPYSL3 1809 genome.wustl.edu 37 5 146795287 146795287 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001387.2 -1 validated p.L155F 1.000 364 0% 271 11.4% 17 11.7% possibly_damaging(0.754) deleterious(0) deleterious(0.723) HMMPfam_Amidohydro_1,superfamily_Metalo_hydrolase,superfamily_SSF51556 JAKMIP2 9832 genome.wustl.edu 37 5 147040936 147040936 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014790.3 -1 provisional p.V68M 1.000 555 0.2% 322 27.6% 0 - probably_damaging(0.963) tolerated(0.29) neutral(0.435) NULL SPINK5 11005 genome.wustl.edu 37 5 147504370 147504370 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001127698.1 +1 reviewed p.K903 0.143 99 0% 80 27.5% 0 - - - - HMMSmart_SM00280,HMMPfam_Kazal_2 SPINK5 11005 genome.wustl.edu 37 5 147510951 147510951 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001127698.1 +1 reviewed p.L1062M 1.000 525 0.4% 307 10.7% 2 50% probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_Kazal_1,HMMSmart_SM00280,superfamily_Kazal-type serine protease inhibitors SPINK7 84651 genome.wustl.edu 37 5 147693705 147693705 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032566.2 +1 validated p.P44T 1.000 381 0% 263 28.5% 0 - possibly_damaging(0.914) tolerated(0.08) deleterious(0.666) HMMSmart_KAZAL,superfamily_SSF100895 SPINK7 84651 genome.wustl.edu 37 5 147693777 147693777 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032566.2 +1 validated p.T68A 0.227 244 0.4% 180 26.1% 0 - benign(0.001) tolerated(0.23) neutral(0.042) HMMPfam_Kazal_1,HMMSmart_KAZAL,superfamily_SSF100895 ADRB2 154 genome.wustl.edu 37 5 148207421 148207421 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000024.5 +1 reviewed p.R343C 0.809 146 0% 107 35.5% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_Family A G protein-coupled receptor-like SH3TC2 79628 genome.wustl.edu 37 5 148406261 148406261 + Frame_Shift_Del DEL T T - novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024577.3 -1 reviewed p.N976fs 0.012 - - - - - - - - - superfamily_TPR-like AFAP1L1 134265 genome.wustl.edu 37 5 148695422 148695422 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152406.2 +1 validated p.S353 0.992 67 0% 39 20.5% 0 - - - - NULL GRPEL2 134266 genome.wustl.edu 37 5 148730600 148730600 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152407.3 +1 validated p.R145* 1.000 313 0% 212 26.9% 12 33.3% - - - HMMPfam_GrpE PDE6A 5145 genome.wustl.edu 37 5 149286908 149286908 + Silent SNP G G A rs121918577 TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000440.2 -1 reviewed p.S344 0.823 574 0.2% 336 28.3% 0 - - - - HMMPfam_GAF,HMMSmart_GAF,superfamily_SSF55781 SLC26A2 1836 genome.wustl.edu 37 5 149357559 149357559 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000112.3 +1 reviewed p.G115D 1.000 382 0.3% 263 29.7% 6 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC26A2 1836 genome.wustl.edu 37 5 149359860 149359860 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000112.3 +1 reviewed p.A235V 0.881 493 0.2% 324 23.8% 13 30.7% benign(0) tolerated(0.6) neutral(0.004) NULL SLC26A2 1836 genome.wustl.edu 37 5 149360318 149360318 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000112.3 +1 reviewed p.A388S 1.000 195 0% 152 27.6% 5 40% benign(0.002) tolerated(0.18) neutral(0.056) HMMPfam_Sulfate_transp CSF1R 1436 genome.wustl.edu 37 5 149441368 149441368 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005211.3 -1 reviewed p.E557D 0.856 191 0.5% 67 11.9% 10 0% possibly_damaging(0.434) tolerated(0.59) neutral(0.146) NULL PDGFRB 5159 genome.wustl.edu 37 5 149499058 149499058 + Missense_Mutation SNP C C T rs66748971 TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002609.3 -1 reviewed p.A924T 1.000 136 0.7% 54 18.5% 16 0% possibly_damaging(0.467) tolerated(0.53) neutral(0.161) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like PDGFRB 5159 genome.wustl.edu 37 5 149514484 149514484 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002609.3 -1 reviewed p.P154S 1.000 180 0% 79 22.8% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CAMK2A 815 genome.wustl.edu 37 5 149607824 149607824 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015981.3 -1 reviewed p.A390S 0.991 89 0% 54 27.8% 0 - benign(0) tolerated(1) - superfamily_Protein kinase-like (PK-like),HMMPfam_CaMKII_AD TCOF1 6949 genome.wustl.edu 37 5 149754675 149754675 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001135243.1 +1 reviewed p.S479 0.631 80 0% 34 20.6% 13 61.5% - - - HMMPfam_Treacle CD74 972 genome.wustl.edu 37 5 149785870 149785870 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001025159.1 -1 validated p.A131 0.891 108 0% 46 26.1% 1811 0.3% unknown(0) - - NULL NDST1 3340 genome.wustl.edu 37 5 149901156 149901156 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001543.4 +1 validated p.E114* 1.000 118 0% 61 29.5% 18 27.7% - - - NULL NDST1 3340 genome.wustl.edu 37 5 149915331 149915331 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001543.4 +1 validated p.V441M 0.868 51 0% 25 28% 43 69.7% benign(0.3) tolerated(0.1) neutral(0.379) NULL ZNF300 91975 genome.wustl.edu 37 5 150276082 150276082 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052860.2 -1 reviewed p.P240H 0.185 530 0% 425 30.1% 0 - benign(0.009) tolerated(0.14) neutral(0.250) superfamily_C2H2 and C2HC zinc fingers ANXA6 309 genome.wustl.edu 37 5 150488066 150488066 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001155.3 -1 reviewed p.T577I 1.000 389 0% 207 23.7% 143 37% benign(0) deleterious(0.05) neutral(0.345) superfamily_Annexin,PatternScan_ANNEXIN,HMMPfam_Annexin,HMMSmart_ANX SLC36A1 206358 genome.wustl.edu 37 5 150853329 150853329 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_078483.2 +1 reviewed p.G273 0.618 310 0% 182 23.6% 5 40% - - - HMMPfam_Aa_trans FAT2 2196 genome.wustl.edu 37 5 150911508 150911508 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001447.2 -1 reviewed p.S3151T 1.000 111 0% 55 29.1% 0 - probably_damaging(0.999) tolerated(0.12) deleterious(0.751) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT2 2196 genome.wustl.edu 37 5 150920273 150920273 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001447.2 -1 reviewed p.R2965M 0.620 138 0% 82 30.5% 1 0% possibly_damaging(0.835) deleterious(0.04) deleterious(0.667) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT2 2196 genome.wustl.edu 37 5 150946865 150946865 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001447.2 -1 reviewed p.R543H 0.999 206 0% 106 36.8% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_SM00112,superfamily_Cadherin-like SPARC 6678 genome.wustl.edu 37 5 151047144 151047144 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003118.2 -1 provisional p.D157N 1.000 58 0% 35 31.4% 347 0% possibly_damaging(0.871) deleterious(0.01) deleterious(0.744) HMMPfam_SPARC_Ca_bdg,superfamily_EF-hand GLRA1 2741 genome.wustl.edu 37 5 151239359 151239359 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000171.3 -1 reviewed p.L155I 1.000 143 0% 75 28% 0 - possibly_damaging(0.865) deleterious(0.01) deleterious(0.741) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like NMUR2 56923 genome.wustl.edu 37 5 151775049 151775049 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020167.4 -1 reviewed p.A303D 0.006 401 0% 221 30.3% 1 0% benign(0.051) tolerated(0.63) neutral(0.007) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like NMUR2 56923 genome.wustl.edu 37 5 151784127 151784127 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020167.4 -1 reviewed p.S183I 1.000 167 0% 80 38.8% 1 0% possibly_damaging(0.748) tolerated(1) neutral(0.275) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FAM114A2 10827 genome.wustl.edu 37 5 153390872 153390872 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018691.2 -1 validated p.D308N 1.000 339 0% 275 12.4% 20 0% benign(0.04) tolerated(0.1) neutral(0.289) NULL FAM114A2 10827 genome.wustl.edu 37 5 153414295 153414295 + Missense_Mutation SNP C C A rs58312686 TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000442256 -1 known p.Q73H 0.104 396 0% 272 29.8% 0 - - - - NULL GALNT10 55568 genome.wustl.edu 37 5 153709223 153709223 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198321.3 +1 reviewed p.V165I 1.000 306 0% 216 33.3% 32 40.6% benign(0.074) tolerated(0.54) neutral(0.013) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases LARP1 23367 genome.wustl.edu 37 5 154170210 154170210 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015315.3 +1 validated p.G91 0.966 184 0% 97 29.9% 26 46.1% - - - NULL C5orf4 10826 genome.wustl.edu 37 5 154214479 154214479 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032385.3 -1 validated p.G22S 1.000 41 0% 27 14.8% 2 0% benign(0.013) tolerated(0.95) neutral(0.001) NULL GEMIN5 25929 genome.wustl.edu 37 5 154278182 154278182 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015465.3 -1 validated p.A1055T 1.000 145 0% 71 26.8% 21 76.1% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL GEMIN5 25929 genome.wustl.edu 37 5 154296573 154296573 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015465.3 -1 validated p.L614M 1.000 277 0% 183 26.2% 4 50% probably_damaging(0.997) tolerated(0.12) deleterious(0.727) superfamily_WD40 repeat-like GEMIN5 25929 genome.wustl.edu 37 5 154311018 154311018 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015465.3 -1 validated p.G261W 1.000 494 0% 289 26% 3 0% probably_damaging(0.996) tolerated(0.18) deleterious(0.518) superfamily_WD40 repeat-like KIF4B 285643 genome.wustl.edu 37 5 154396738 154396738 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001099293.1 +1 provisional p.D1107N 0.989 236 0% 129 36.4% 0 - benign(0.003) tolerated(0.79) neutral(0.001) NULL HAVCR2 84868 genome.wustl.edu 37 5 156522333 156522333 + Silent SNP G G A rs183238604 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032782.3 -1 validated p.G220 0.007 382 0% 270 30% 5 0% - - - NULL HAVCR2 84868 genome.wustl.edu 37 5 156525902 156525902 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032782.3 -1 validated p.Q163H 1.000 188 0.5% 137 29.9% 2 0% probably_damaging(0.961) deleterious(0.02) deleterious(0.787) NULL NIPAL4 348938 genome.wustl.edu 37 5 156890158 156890158 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001099287.1 +1 reviewed p.D94N 0.001 227 0% 135 30.4% 0 - unknown(0) - - NULL THG1L 54974 genome.wustl.edu 37 5 157159974 157159974 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017872.3 +1 provisional p.I97S 1.000 253 0% 140 32.1% 15 20% probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_Thg1 UBLCP1 134510 genome.wustl.edu 37 5 158695986 158695986 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145049.3 +1 validated p.E21D 1.000 165 0% 111 19.8% 37 35.1% benign(0.001) tolerated(0.62) neutral(0.004) HMMPfam_ubiquitin,HMMSmart_SM00213,superfamily_Ubiquitin-like IL12B 3593 genome.wustl.edu 37 5 158743758 158743758 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002187.2 -1 reviewed p.V308M 0.988 92 0% 53 28.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_fn3,superfamily_FN_III-like ENSG00000223908 0 genome.wustl.edu 37 5 159450876 159450876 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000411779 -1 known p.K40N 0.997 499 0% 345 28.7% 0 - - - - NULL PWWP2A 114825 genome.wustl.edu 37 5 159520704 159520704 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130864.1 -1 validated p.R318M 1.000 214 0% 146 26.7% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PWWP2A 114825 genome.wustl.edu 37 5 159520916 159520916 + Silent SNP C C T rs142143896 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130864.1 -1 validated p.P247 0.000 189 0% 128 34.4% 9 55.5% - - - NULL C5orf54 63920 genome.wustl.edu 37 5 159821584 159821584 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022090.3 -1 validated p.A305V 1.000 400 0% 231 28.1% 9 11.1% probably_damaging(0.987) deleterious(0.03) deleterious(0.801) NULL C5orf54 63920 genome.wustl.edu 37 5 159821926 159821926 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022090.3 -1 validated p.F191C 1.000 224 0% 139 18.7% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLU7 10569 genome.wustl.edu 37 5 159830317 159830317 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006425.4 -1 reviewed p.P579L 1.000 406 0% 218 26.1% 38 47.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PTTG1 9232 genome.wustl.edu 37 5 159854731 159854731 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004219.2 +1 reviewed p.S127I 0.998 239 0% 132 32.6% 74 39.1% possibly_damaging(0.8) deleterious(0.02) deleterious(0.684) HMMPfam_Securin ATP10B 23120 genome.wustl.edu 37 5 160025865 160025865 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025153.2 -1 validated p.P1159H 1.000 887 0% 627 30.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ATP10B 23120 genome.wustl.edu 37 5 160044894 160044894 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025153.2 -1 validated p.R835C 0.623 303 0% 201 34.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N ATP10B 23120 genome.wustl.edu 37 5 160047528 160047528 + Missense_Mutation SNP C C T rs192890224 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025153.2 -1 validated p.V748M 0.999 85 0% 46 32.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N GABRB2 2561 genome.wustl.edu 37 5 160721245 160721245 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021911.2 -1 reviewed p.A461V 1.000 187 0% 86 31.4% 0 - benign(0) tolerated(0.27) neutral(0.034) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM GABRB2 2561 genome.wustl.edu 37 5 160886695 160886695 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021911.2 -1 reviewed p.H131 0.979 138 0% 109 25.7% 0 - - - - HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD GABRA6 2559 genome.wustl.edu 37 5 161119184 161119184 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000811.2 +1 reviewed p.P355H 0.999 341 0% 228 26.3% 0 - benign(0.256) tolerated(0.17) neutral(0.085) HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore GABRA1 2554 genome.wustl.edu 37 5 161292729 161292729 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000806.5 +1 reviewed p.R64C 1.000 419 0% 278 32% 0 - probably_damaging(0.989) deleterious(0.03) deleterious(0.804) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD HMMR 3161 genome.wustl.edu 37 5 162902538 162902538 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142556.1 +1 reviewed p.E376 0.990 317 0% 173 28.3% 3 66.6% - - - NULL MAT2B 27430 genome.wustl.edu 37 5 162943714 162943714 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013283.3 +1 reviewed p.M239I 1.000 108 0% 47 25.5% 85 38.8% benign(0.001) tolerated(0.68) neutral(0.002) HMMPfam_RmlD_sub_bind,superfamily_NAD(P)-binding Rossmann-fold domains ODZ2 57451 genome.wustl.edu 37 5 167379628 167379628 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001122679.1 +1 inferred p.P250S 1.000 86 0% 61 26.2% 0 - benign(0.001) tolerated(0.08) neutral(0.300) HMMPfam_Ten_N ODZ2 57451 genome.wustl.edu 37 5 167642225 167642225 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001122679.1 +1 inferred p.A1333 1.000 130 0% 77 33.8% 0 - - - - superfamily_Concanavalin A-like lectins/glucanases,superfamily_NHL repeat ODZ2 57451 genome.wustl.edu 37 5 167671668 167671668 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001122679.1 +1 inferred p.V1913M 0.991 74 0% 48 25% 0 - benign(0.061) tolerated(0.19) neutral(0.054) superfamily_Concanavalin A-like lectins/glucanases ODZ2 57451 genome.wustl.edu 37 5 167674559 167674559 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001122679.1 +1 inferred p.Y2196 0.654 69 0% 39 23.1% 0 - - - - HMMPfam_RHS_repeat WWC1 23286 genome.wustl.edu 37 5 167849053 167849053 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015238.2 +1 reviewed p.L409M 1.000 67 0% 32 34.4% 13 38.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL WWC1 23286 genome.wustl.edu 37 5 167850734 167850734 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015238.2 +1 reviewed p.G491S 1.000 132 0% 44 25% 42 57.1% possibly_damaging(0.822) tolerated(0.45) neutral(0.323) NULL WWC1 23286 genome.wustl.edu 37 5 167855748 167855748 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015238.2 +1 reviewed p.D652 0.220 203 0% 90 31.1% 21 57.1% - - - NULL ENSG00000233913 0 genome.wustl.edu 37 5 168043469 168043469 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000421908 +1 known p.R38Q 1.000 929 0% 585 27.4% 479 0.2% - - - HMMPfam_Ribosomal_L16,superfamily_Ribosomal protein L10e SLIT3 6586 genome.wustl.edu 37 5 168201271 168201271 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003062.2 -1 validated p.L422I 0.998 376 0% 178 34.8% 6 16.6% probably_damaging(0.999) tolerated(0.09) deleterious(0.787) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_RNI-like CCDC99 54908 genome.wustl.edu 37 5 169026165 169026165 + Splice_Site SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017785.4 +1 validated e9+2 1.000 177 0% 115 30.4% 0 - - - - - CCDC99 54908 genome.wustl.edu 37 5 169028402 169028402 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017785.4 +1 validated p.P481 0.000 289 0% 197 17.8% 12 8.3% - - - NULL FOXI1 2299 genome.wustl.edu 37 5 169535095 169535095 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012188.4 +1 reviewed p.M206T 1.000 257 0% 132 11.4% 0 - probably_damaging(0.959) deleterious(0) deleterious(0.847) "HMMPfam_Fork_head,HMMSmart_SM00339,superfamily_""Winged helix"" DNA-binding domain" LCP2 3937 genome.wustl.edu 37 5 169724560 169724560 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005565.3 -1 reviewed p.S19N 0.951 39 0% 17 29.4% 9 0% benign(0) tolerated(0.78) neutral(0.001) HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_2 FBXW11 23291 genome.wustl.edu 37 5 171297761 171297761 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012300.2 -1 reviewed p.A460V 1.000 298 0% 182 29.1% 31 54.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 STK10 6793 genome.wustl.edu 37 5 171471985 171471985 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005990.3 -1 reviewed p.E936D 1.000 153 0% 62 21% 27 40.7% benign(0.001) deleterious(0.04) neutral(0.349) NULL CPEB4 80315 genome.wustl.edu 37 5 173380238 173380238 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030627.2 +1 validated p.R642H 1.000 421 0% 316 28.5% 9 22.2% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMSmart_SM00360,superfamily_RNA-binding domain RBD KIAA1191 57179 genome.wustl.edu 37 5 175775042 175775042 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001079685.1 -1 validated p.S197 0.115 364 0% 217 29% 67 35.8% - - - NULL UNC5A 90249 genome.wustl.edu 37 5 176305359 176305359 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133369.2 +1 validated p.S662T 1.000 29 0% 14 35.7% 8 50% benign(0) tolerated(0.65) neutral(0.003) NULL ZNF346 23567 genome.wustl.edu 37 5 176477896 176477896 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012279.2 +1 reviewed p.R221H 1.000 102 0% 57 28.1% 15 53.3% benign(0) tolerated(0.28) neutral(0.032) NULL FGFR4 2264 genome.wustl.edu 37 5 176517849 176517849 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000377207 +1 known p.C228Y 0.000 459 0% 224 29.5% 0 - benign(0.001) tolerated(0.09) neutral(0.296) NULL LMAN2 10960 genome.wustl.edu 37 5 176764386 176764386 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006816.2 -1 reviewed p.R218H 1.000 27 0% 14 42.9% 471 43.7% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Lectin_leg-like,superfamily_ConA_like_lec_gl LMAN2 10960 genome.wustl.edu 37 5 176778236 176778236 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006816.2 -1 reviewed p.S85G 1.000 153 0% 106 11.3% 398 7.2% benign(0.313) tolerated(0.17) neutral(0.157) HMMPfam_Lectin_leg-like,superfamily_ConA_like_lec_gl LMAN2 10960 genome.wustl.edu 37 5 176778478 176778478 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006816.2 -1 reviewed p.E57D 1.000 92 0% 54 29.6% 269 43.1% probably_damaging(0.98) tolerated(0.12) deleterious(0.684) HMMPfam_Lectin_leg-like,superfamily_ConA_like_lec_gl RGS14 10636 genome.wustl.edu 37 5 176798372 176798372 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006480.4 +1 reviewed p.R453H 0.000 162 0% 71 35.2% 8 25% benign(0.396) tolerated(0.06) neutral(0.450) NULL DBN1 1627 genome.wustl.edu 37 5 176887452 176887452 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080881.2 -1 reviewed p.S314 0.938 158 0% 91 18.7% 144 42.3% - - - NULL FAM193B 54540 genome.wustl.edu 37 5 176951602 176951602 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019057.3 -1 validated p.P594H 0.208 22 0% 18 33.3% 23 43.4% probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL PROP1 5626 genome.wustl.edu 37 5 177421261 177421261 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006261.4 -1 reviewed p.R63M 0.996 234 0% 94 21.3% 0 - probably_damaging(0.995) deleterious(0.05) deleterious(0.803) superfamily_Homeodomain-like AGXT2L2 85007 genome.wustl.edu 37 5 177649869 177649869 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153373.2 -1 validated p.F229V 1.000 65 0% 47 25.5% 16 12.5% benign(0.029) deleterious(0.01) neutral(0.407) HMMPfam_Aminotran_3,superfamily_PLP-dependent transferases CLK4 57396 genome.wustl.edu 37 5 178032319 178032319 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020666.2 -1 reviewed p.M400T 1.000 155 0% 98 10.2% 22 45.4% probably_damaging(0.989) deleterious(0.03) deleterious(0.804) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase ZNF354A 6940 genome.wustl.edu 37 5 178139076 178139076 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005649.2 -1 validated p.I601 0.799 308 0% 148 34.5% 27 37% - - - superfamily_SSF57667 ZNF354A 6940 genome.wustl.edu 37 5 178156001 178156001 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005649.2 -1 validated p.A8V 0.004 76 0% 44 22.7% 3 0% benign(0.001) deleterious(0.03) neutral(0.364) superfamily_Krueppel-associated_box GRM6 2916 genome.wustl.edu 37 5 178416330 178416330 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000843.3 -1 reviewed p.E363D 1.000 123 0% 50 26% 0 - benign(0) tolerated(0.98) - HMMPfam_ANF_receptor,superfamily_SSF53822 ZNF354C 30832 genome.wustl.edu 37 5 178505781 178505781 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014594.1 +1 provisional p.K116N 0.009 242 0% 173 33.5% 1 100% possibly_damaging(0.793) tolerated(0.5) neutral(0.308) NULL RUFY1 80230 genome.wustl.edu 37 5 179023579 179023579 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025158.3 +1 validated p.R510W 0.001 135 0% 70 30% 49 48.9% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL LOC729595 729595 genome.wustl.edu 37 5 179121207 179121207 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_001130734.2 +1 model p.G4C 1.000 89 0% 52 21.2% 0 - - - - superfamily_HMG-box MAML1 9794 genome.wustl.edu 37 5 179192383 179192383 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014757.4 +1 reviewed p.G124 0.001 435 0.5% 234 26.5% 14 28.5% - - - NULL MAML1 9794 genome.wustl.edu 37 5 179195974 179195974 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014757.4 +1 reviewed p.A619T 1.000 588 0% 285 27% 27 33.3% probably_damaging(0.995) deleterious(0.03) deleterious(0.822) NULL SQSTM1 8878 genome.wustl.edu 37 5 179250960 179250960 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003900.4 +1 reviewed p.V135A 1.000 44 0% 23 21.7% 359 42.8% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_ZZ,HMMSmart_SM00291,PatternScan_ZF_ZZ_1 TBC1D9B 23061 genome.wustl.edu 37 5 179292271 179292271 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198868.2 -1 validated p.L1019I 1.000 87 0% 52 23.1% 79 50.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL GFPT2 9945 genome.wustl.edu 37 5 179743986 179743986 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005110.2 -1 provisional p.R344Q 1.000 228 0% 156 24.4% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF53697 LOC100289003 100289003 genome.wustl.edu 37 5 180219411 180219411 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002342577.1 +1 model p.A484T 0.866 36 0% 15 40% 129 36.4% - - - NULL BTNL9 153579 genome.wustl.edu 37 5 180477237 180477237 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152547.4 +1 validated p.V202I 0.011 80 0% 38 23.7% 0 - benign(0.021) tolerated(0.11) neutral(0.273) superfamily_Immunoglobulin IRF4 3662 genome.wustl.edu 37 6 397217 397217 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002460.2 +1 validated p.R201H 0.995 157 0% 66 30.3% 2 0% probably_damaging(0.997) tolerated(0.19) deleterious(0.516) NULL EXOC2 55770 genome.wustl.edu 37 6 633093 633093 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018303.4 -1 reviewed p.C48Y 1.000 208 0% 130 23.1% 11 18.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TIG,superfamily_Ig_E-set WRNIP1 56897 genome.wustl.edu 37 6 2770553 2770553 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020135.2 +1 reviewed p.R405H 0.882 87 0% 45 11.1% 41 9.7% benign(0.154) deleterious(0.01) neutral(0.419) superfamily_P-loop containing nucleoside triphosphate hydrolases WRNIP1 56897 genome.wustl.edu 37 6 2779576 2779576 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020135.2 +1 reviewed p.G446R 0.997 133 0% 88 25% 58 29.3% possibly_damaging(0.931) tolerated(0.36) neutral(0.398) superfamily_P-loop containing nucleoside triphosphate hydrolases WRNIP1 56897 genome.wustl.edu 37 6 2785346 2785346 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020135.2 +1 reviewed p.P610T 0.998 120 0% 57 24.6% 72 31.9% possibly_damaging(0.893) tolerated(0.51) neutral(0.361) NULL SERPINB1 1992 genome.wustl.edu 37 6 2838220 2838220 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030666.2 -1 provisional p.S107L 0.990 430 0% 203 27.6% 95 43.1% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin ENSG00000247767 0 genome.wustl.edu 37 6 2900539 2900539 + RNA SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000499208 +1 novel NULL 0.000 63 0% 52 28.8% 0 - - - - - PRPF4B 8899 genome.wustl.edu 37 6 4041037 4041037 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003913.4 +1 reviewed p.R482* 0.771 119 0.8% 66 10.6% 16 0% - - - NULL C6orf201 404220 genome.wustl.edu 37 6 4099240 4099240 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001085401.1 +1 validated p.N31T 0.000 183 0% 113 23.9% 0 - possibly_damaging(0.68) tolerated(0.06) deleterious(0.565) NULL C6orf201 404220 genome.wustl.edu 37 6 4099255 4099255 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001085401.1 +1 validated p.G36D 0.128 207 0% 112 23.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL RPP40 10799 genome.wustl.edu 37 6 4995496 4995496 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006638.2 -1 validated p.E303G 1.000 149 0.7% 83 30.1% 25 52% possibly_damaging(0.455) tolerated(0.15) neutral(0.390) HMMPfam_Ribonuc_P_40 RREB1 6239 genome.wustl.edu 37 6 7211077 7211077 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001003699.3 +1 reviewed p.A156T 0.000 419 0.2% 199 15.6% 15 40% benign(0.001) tolerated(0.57) neutral(0.006) NULL RREB1 6239 genome.wustl.edu 37 6 7211139 7211139 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001003699.3 +1 reviewed p.H176 0.322 483 0.2% 235 24.3% 16 43.7% - - - NULL DSP 1832 genome.wustl.edu 37 6 7577233 7577233 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004415.2 +1 reviewed p.E945D 0.997 180 0.6% 114 22.8% 15 20% probably_damaging(0.971) tolerated(0.37) neutral(0.432) HMMSmart_SM00150,superfamily_Spectrin repeat DSP 1832 genome.wustl.edu 37 6 7581419 7581419 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004415.2 +1 reviewed p.R1666W 0.999 222 0% 121 27.3% 29 55.1% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Prefoldin DSP 1832 genome.wustl.edu 37 6 7581583 7581585 + In_Frame_Del DEL AGA AGA - novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004415.2 +1 reviewed p.E1723in_frame_del 0.998:1.000:1.000 - - - - - - - - - superfamily_Prefoldin TXNDC5 81567 genome.wustl.edu 37 6 7888970 7888970 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030810.2 -1 reviewed p.P311S 1.000 72 0% 44 34.1% 267 49% possibly_damaging(0.561) tolerated(0.51) neutral(0.201) NULL SLC35B3 51000 genome.wustl.edu 37 6 8430202 8430202 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142540.1 -1 validated p.D64 0.598 157 0.6% 73 26% 19 26.3% - - - NULL PAK1IP1 55003 genome.wustl.edu 37 6 10709189 10709189 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017906.2 +1 validated p.V282F 0.994 471 0% 319 32.3% 151 47% possibly_damaging(0.649) tolerated(0.09) deleterious(0.524) superfamily_WD40_like MAK 4117 genome.wustl.edu 37 6 10802215 10802215 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005906.3 -1 reviewed p.K247N 1.000 218 0% 134 12.7% 1 0% benign(0.24) tolerated(0.07) neutral(0.343) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase NEDD9 4739 genome.wustl.edu 37 6 11190389 11190389 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142393.1 -1 validated p.E571D 0.225 142 0% 74 18.9% 11 9% benign(0) tolerated(0.45) neutral(0.012) NULL HIVEP1 3096 genome.wustl.edu 37 6 12122235 12122235 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002114.2 +1 validated p.R736H 0.999 177 0% 120 17.5% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL HIVEP1 3096 genome.wustl.edu 37 6 12123565 12123565 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002114.2 +1 validated p.I1179 0.000 224 0% 152 32.2% 4 0% - - - NULL JARID2 3720 genome.wustl.edu 37 6 15374443 15374443 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004973.2 +1 reviewed p.Q47H 1.000 422 0% 240 27.1% 0 - possibly_damaging(0.805) deleterious(0) deleterious(0.748) NULL JARID2 3720 genome.wustl.edu 37 6 15374449 15374449 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004973.2 +1 reviewed p.A49 0.136 422 0% 236 27.5% 0 - - - - NULL JARID2 3720 genome.wustl.edu 37 6 15468832 15468832 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004973.2 +1 reviewed p.V185F 0.081 243 0% 135 26.7% 4 25% benign(0.313) deleterious(0.01) deleterious(0.503) NULL JARID2 3720 genome.wustl.edu 37 6 15487603 15487603 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004973.2 +1 reviewed p.A246T 1.000 104 0% 74 21.6% 4 0% benign(0.001) tolerated(0.08) neutral(0.300) NULL JARID2 3720 genome.wustl.edu 37 6 15512545 15512545 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004973.2 +1 reviewed p.C1020Y 1.000 135 0% 48 12.5% 6 50% probably_damaging(0.977) tolerated(0.07) deleterious(0.738) HMMSmart_SM00558,HMMPfam_JmjC NUP153 9972 genome.wustl.edu 37 6 17624983 17624983 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005124.2 -1 reviewed p.G1328E 1.000 209 0% 147 29.9% 56 33.9% probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL NUP153 9972 genome.wustl.edu 37 6 17669229 17669229 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005124.2 -1 reviewed p.D349Y 0.019 105 0% 70 21.4% 12 50% possibly_damaging(0.654) tolerated(0.08) deleterious(0.530) HMMPfam_Nup153 KDM1B 221656 genome.wustl.edu 37 6 18166504 18166504 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153042.3 +1 validated p.K104N 0.981 202 0% 102 23.5% 10 20% probably_damaging(0.996) deleterious(0.04) deleterious(0.810) NULL KDM1B 221656 genome.wustl.edu 37 6 18171683 18171683 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153042.3 +1 validated p.C169 0.998 218 0% 111 27.9% 24 41.6% - - - HMMPfam_zf-CW RNF144B 255488 genome.wustl.edu 37 6 18465259 18465259 + Nonsense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182757.2 +1 validated p.C291* 0.996 61 0% 37 24.3% 22 31.8% - - - NULL CDKAL1 54901 genome.wustl.edu 37 6 21201394 21201394 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017774.3 +1 reviewed p.I479 1.000 333 0% 197 26.4% 12 83.3% - - - HMMPfam_TRAM,superfamily_Radical SAM enzymes NRSN1 140767 genome.wustl.edu 37 6 24146141 24146141 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080723.4 +1 validated p.R185 0.996 265 0.4% 197 23.9% 1 0% - - - NULL MRS2 57380 genome.wustl.edu 37 6 24412499 24412499 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020662.2 +1 validated p.R155H 1.000 148 0% 84 23.8% 36 55.5% benign(0.013) tolerated(0.56) neutral(0.007) HMMPfam_CorA ALDH5A1 7915 genome.wustl.edu 37 6 24503567 24503567 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_170740.1 +1 reviewed p.R172H 1.000 109 0% 64 35.9% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Aldedh,superfamily_ALDH-like LRRC16A 55604 genome.wustl.edu 37 6 25472749 25472749 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000377969 +1 known p.E131* 1.000 48 0% 31 19.4% 7 14.2% - - - superfamily_SSF52047 SLC17A3 10786 genome.wustl.edu 37 6 25851050 25851050 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098486.1 -1 validated p.P256 0.006 431 0% 246 24% 0 - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter SLC17A3 10786 genome.wustl.edu 37 6 25855459 25855459 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098486.1 -1 validated e5-1 0.902 159 0% 93 37.6% 0 - - - - - SLC17A2 10246 genome.wustl.edu 37 6 25917040 25917040 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005835.2 -1 validated p.A268V 0.998 188 0% 110 16.4% 0 - possibly_damaging(0.473) deleterious(0.01) deleterious(0.561) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter TRIM38 10475 genome.wustl.edu 37 6 25966976 25966976 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006355.2 +1 reviewed p.Q76* 0.939 180 0% 120 31.7% 10 20% - - - superfamily_SSF57850 HIST1H2BB 3018 genome.wustl.edu 37 6 26043703 26043703 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021062.2 -1 reviewed p.G61 1.000 291 0% 170 29.4% 1 100% - - - HMMSmart_H2B,HMMPfam_Histone,superfamily_Histone-fold HFE 3077 genome.wustl.edu 37 6 26092936 26092936 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000410.3 +1 reviewed p.H214Y 0.205 481 0% 251 26.7% 3 0% possibly_damaging(0.805) deleterious(0.03) deleterious(0.667) superfamily_Immunoglobulin HIST1H3D 8351 genome.wustl.edu 37 6 26197295 26197295 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003530.3 -1 reviewed p.L62 1.000 156 0% 83 13.3% 23 13% - - - HMMSmart_SM00428,HMMPfam_Histone,superfamily_Histone-fold HIST1H2BG 8339 genome.wustl.edu 37 6 26216691 26216691 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003518.3 -1 reviewed p.G61C 1.000 442 0% 217 25.3% 14 35.7% probably_damaging(0.989) deleterious(0.01) deleterious(0.845) HMMSmart_SM00427,HMMPfam_Histone,superfamily_Histone-fold HIST1H2BI 8346 genome.wustl.edu 37 6 26273489 26273489 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003525.2 +1 reviewed p.Q96K 1.000 272 0% 113 29.2% 0 - possibly_damaging(0.7) deleterious(0) deleterious(0.696) HMMSmart_SM00427,PatternScan_HISTONE_H2B,HMMPfam_Histone,superfamily_Histone-fold BTN3A2 11118 genome.wustl.edu 37 6 26369053 26369053 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007047.3 +1 reviewed p.V116I 0.000 406 0% 214 27.6% 22 36.3% benign(0.159) tolerated(0.17) neutral(0.073) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 BTN2A2 10385 genome.wustl.edu 37 6 26388387 26388387 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006995.3 +1 reviewed p.S197P 0.000 322 0% 166 13.3% 1 0% benign(0.011) tolerated(0.21) neutral(0.044) HMMPfam_C2-set_2,superfamily_Immunoglobulin BTN2A2 10385 genome.wustl.edu 37 6 26392755 26392755 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006995.3 +1 reviewed p.A378T 0.485 433 0% 220 14.5% 1 0% benign(0) tolerated(1) - HMMSmart_SM00589 BTN3A1 11119 genome.wustl.edu 37 6 26406327 26406327 + Silent SNP G G A rs1057923 TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007048.5 +1 validated p.P92 0.006 351 0% 188 22.9% 17 11.7% - - - HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin BTN3A1 11119 genome.wustl.edu 37 6 26406397 26406397 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007048.5 +1 validated p.V116I 0.040 295 0% 180 27.2% 10 50% benign(0.079) tolerated(0.13) neutral(0.258) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin BTN1A1 696 genome.wustl.edu 37 6 26502144 26502144 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001732.2 +1 validated p.L136M 0.000 83 0% 45 24.4% 0 - benign(0.133) tolerated(0.06) neutral(0.334) HMMSmart_SM00409,superfamily_Immunoglobulin ABT1 29777 genome.wustl.edu 37 6 26598693 26598693 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013375.2 +1 reviewed p.Q213H 1.000 69 0% 41 34.1% 73 38.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ZNF322 79692 genome.wustl.edu 37 6 26638443 26638443 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024639.3 -1 validated p.A113 1.000 881 0% 644 26.2% 8 62.5% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 HIST1H4I 8294 genome.wustl.edu 37 6 27107333 27107333 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003495.2 +1 reviewed p.V82 1.000 84 0% 39 17.9% 2 50% - - - HMMSmart_SM00417,HMMSmart_SM00803,HMMPfam_Histone,superfamily_Histone-fold PRSS16 10279 genome.wustl.edu 37 6 27217002 27217002 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005865.3 +1 reviewed p.R154H 0.993 352 0% 175 33.7% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_Peptidase_S28,superfamily_SSF53474 ZNF184 7738 genome.wustl.edu 37 6 27419467 27419467 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007149.2 -1 validated p.R624Q 0.218 392 0% 260 28.1% 20 40% probably_damaging(0.998) tolerated(0.6) deleterious(0.479) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HIST1H2BL 8340 genome.wustl.edu 37 6 27775452 27775452 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003519.3 -1 reviewed p.A78D 1.000 200 0% 103 35% 2 50% probably_damaging(0.968) deleterious(0) deleterious(0.855) HMMSmart_H2B,HMMPfam_Histone,superfamily_Histone-fold ZSCAN16 80345 genome.wustl.edu 37 6 28093379 28093379 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025231.1 +1 provisional p.P53H 0.940 695 0.3% 407 15.2% 11 27.2% possibly_damaging(0.943) deleterious(0.01) deleterious(0.793) HMMPfam_SCAN,HMMSmart_SCAN ZNF193 7746 genome.wustl.edu 37 6 28195283 28195283 + Splice_Site SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006299.3 +1 provisional e1+1 0.729 142 0% 74 27% 1 100% - - - - ZNF193 7746 genome.wustl.edu 37 6 28195564 28195564 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006299.3 +1 provisional p.P173S 0.086 186 0% 104 24% 14 28.5% probably_damaging(0.994) tolerated(0.09) deleterious(0.748) NULL ZKSCAN4 387032 genome.wustl.edu 37 6 28217472 28217472 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019110.3 -1 provisional p.H188 0.005 617 0% 354 31.6% 4 25% - - - NULL ZNF323 64288 genome.wustl.edu 37 6 28297401 28297401 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001135215.1 -1 validated p.I20 0.000 280 0% 156 21.8% 31 67.7% - - - NULL ZKSCAN3 80317 genome.wustl.edu 37 6 28327391 28327391 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024493.2 +1 validated p.A10T 0.317 270 0% 140 20.7% 0 - benign(0.002) tolerated(0.45) neutral(0.012) NULL ZKSCAN3 80317 genome.wustl.edu 37 6 28327702 28327702 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024493.2 +1 validated p.S113 0.997 175 0% 106 28.3% 2 0% - - - HMMPfam_SCAN,HMMSmart_SCAN SCAND3 114821 genome.wustl.edu 37 6 28540164 28540164 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052923.1 -1 provisional p.D1168Y 0.213 132 0% 67 25.4% 0 - probably_damaging(0.986) deleterious(0) deleterious(0.879) NULL SCAND3 114821 genome.wustl.edu 37 6 28540443 28540443 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052923.1 -1 provisional p.R1075* 1.000 226 0% 176 27.3% 3 0% - - - NULL SCAND3 114821 genome.wustl.edu 37 6 28543472 28543472 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052923.1 -1 provisional p.I337T 1.000 312 0.3% 195 26.7% 0 - possibly_damaging(0.85) deleterious(0) deleterious(0.772) NULL OR2J1 442185 genome.wustl.edu 37 6 29069055 29069055 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000377171 +1 known p.E112D 0.001 731 0% 496 11.7% 0 - possibly_damaging(0.465) deleterious(0.01) deleterious(0.558) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 OR2J1 442185 genome.wustl.edu 37 6 29069297 29069297 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000377171 +1 known p.T193I 0.005 513 0.2% 396 26.8% 0 - benign(0.022) tolerated(0.2) neutral(0.050) HMMPfam_7tm_1,superfamily_SSF81321 OR12D3 81797 genome.wustl.edu 37 6 29342375 29342375 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030959.2 -1 provisional p.C230 0.000 450 0% 313 11.8% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR2H1 26716 genome.wustl.edu 37 6 29429751 29429751 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030883.3 +1 provisional p.L69I 0.071 510 0% 327 31.2% 0 - probably_damaging(0.992) tolerated(0.57) neutral(0.454) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GABBR1 2550 genome.wustl.edu 37 6 29572681 29572681 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001470.2 -1 reviewed p.V842I 0.987 309 0% 187 32.6% 2 50% benign(0.021) tolerated(1) neutral(0.001) HMMPfam_7tm_3 GABBR1 2550 genome.wustl.edu 37 6 29572762 29572762 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001470.2 -1 reviewed p.L815M 1.000 195 0% 115 20.9% 2 0% probably_damaging(0.979) tolerated(0.56) neutral(0.428) HMMPfam_7tm_3 MOG 4340 genome.wustl.edu 37 6 29634024 29634024 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002433.4 +1 reviewed p.L178M 0.995 177 0% 87 12.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ZFP57 346171 genome.wustl.edu 37 6 29640993 29640993 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001109809.2 -1 reviewed p.G279C 0.002 342 0% 190 25.3% 0 - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) NULL HLA-F 3134 genome.wustl.edu 37 6 29691981 29691981 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098479.1 +1 reviewed p.C122 0.713 107 0% 55 30.9% 26 0% - - - HMMPfam_MHC_I,superfamily_MHC_I/II-like_Ag-recog TRIM31 11074 genome.wustl.edu 37 6 30078430 30078430 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007028.3 -1 reviewed p.R180M 0.000 441 0.2% 241 19.9% 0 - benign(0.091) tolerated(0.08) neutral(0.306) NULL TRIM15 89870 genome.wustl.edu 37 6 30131749 30131749 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033229.2 +1 reviewed p.N96 0.001 114 0.9% 48 31.2% 0 - - - - HMMPfam_zf-B_box,HMMSmart_SM00336,superfamily_B-box zinc-binding domain TRIM26 7726 genome.wustl.edu 37 6 30157216 30157216 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003449.3 -1 validated p.R295* 0.875 214 0% 104 28.8% 25 44% - - - NULL GNL1 2794 genome.wustl.edu 37 6 30522408 30522408 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005275.3 -1 validated p.W182R 1.000 203 0% 97 26.8% 32 34.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases DHX16 8449 genome.wustl.edu 37 6 30630404 30630404 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003587.4 -1 reviewed p.S515I 1.000 98 0% 45 37.8% 17 17.6% probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_DEAH_ATP_HELICASE,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases PPP1R18 170954 genome.wustl.edu 37 6 30653019 30653019 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001134870.1 -1 validated p.T259 0.001 545 0.2% 258 26.7% 9 0% - - - NULL PPP1R18 170954 genome.wustl.edu 37 6 30653062 30653062 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001134870.1 -1 validated p.S245F 0.014 505 0% 274 12.8% 7 0% possibly_damaging(0.805) deleterious(0.01) deleterious(0.709) NULL PPP1R18 170954 genome.wustl.edu 37 6 30653742 30653742 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001134870.1 -1 validated p.E18D 1.000 98 0% 46 17.4% 7 0% probably_damaging(0.971) deleterious(0) deleterious(0.857) NULL NRM 11270 genome.wustl.edu 37 6 30657882 30657882 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007243.1 -1 provisional p.R91Q 0.282 264 0% 169 32% 9 33.3% possibly_damaging(0.449) deleterious(0.05) deleterious(0.492) NULL FLOT1 10211 genome.wustl.edu 37 6 30698878 30698878 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005803.2 -1 reviewed e8-1 1.000 80 0% 43 16.3% 2 50% - - - - PSORS1C2 170680 genome.wustl.edu 37 6 31105801 31105801 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014069.2 -1 validated p.P113H 0.830 72 0% 17 47.1% 0 - possibly_damaging(0.903) deleterious(0) deleterious(0.802) NULL PSORS1C2 170680 genome.wustl.edu 37 6 31105888 31105888 + Missense_Mutation SNP G G A rs34410211 TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014069.2 -1 validated p.P84L 0.966 106 0% 54 24.1% 1 0% possibly_damaging(0.527) deleterious(0) deleterious(0.623) NULL CCHCR1 54535 genome.wustl.edu 37 6 31116409 31116409 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001105564.1 -1 validated p.R487C 0.962 231 0% 108 29.6% 30 40% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_HCR POU5F1 5460 genome.wustl.edu 37 6 31137991 31137991 + Splice_Site SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002701.4 -1 reviewed e1+2 0.003 197 0% 99 30.3% 0 - - - - - DDX39B 7919 genome.wustl.edu 37 6 31500650 31500650 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000417023 -1 known p.R22H 0.997 174 0% 83 32.5% 299 79.5% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases ATP6V1G2 534 genome.wustl.edu 37 6 31516056 31516056 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000415099 -1 known p.G50D 0.947 48 0% 36 27.8% 31 45.1% unknown(0) - - NULL NFKBIL1 4795 genome.wustl.edu 37 6 31516106 31516106 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005007.3 +1 reviewed p.R75H 1.000 34 0% 27 18.5% 32 21.8% probably_damaging(0.998) tolerated(0.22) deleterious(0.516) HMMPfam_Ank,superfamily_Ankyrin repeat PRRC2A 7916 genome.wustl.edu 37 6 31591543 31591543 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080686.2 +1 reviewed p.K49N 1.000 109 0% 73 11% 68 50% unknown(0) deleterious(0) - HMMPfam_BAT2_N PRRC2A 7916 genome.wustl.edu 37 6 31596967 31596967 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080686.2 +1 reviewed p.E604D 1.000 611 0% 271 28.8% 98 35.7% unknown(0) tolerated(0.14) - NULL PRRC2A 7916 genome.wustl.edu 37 6 31604186 31604186 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080686.2 +1 reviewed p.S1942L 0.367 430 0.2% 201 31.8% 287 41.4% benign(0.31) deleterious(0.01) deleterious(0.502) NULL BAG6 7917 genome.wustl.edu 37 6 31610082 31610082 + Silent SNP G G A rs148186069 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004639.3 -1 reviewed p.G684 0.000 48 0% 28 28.6% 80 48.7% - - - NULL GPANK1 7918 genome.wustl.edu 37 6 31632097 31632097 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033177.2 -1 reviewed p.S53 0.000 93 0% 43 41.9% 27 33.3% - - - NULL LY6G5B 58496 genome.wustl.edu 37 6 31639712 31639712 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021221.2 +1 validated p.T87A 0.047 532 0% 296 30.1% 16 43.7% probably_damaging(0.959) tolerated(0.17) neutral(0.462) NULL LY6G6C 80740 genome.wustl.edu 37 6 31687905 31687905 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025261.1 -1 validated p.P43Q 0.071 175 0% 83 26.5% 0 - probably_damaging(0.983) deleterious(0) deleterious(0.873) superfamily_Snake toxin-like MSH5 4439 genome.wustl.edu 37 6 31727939 31727939 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000498473 +1 known p.G111S 0.997 193 0% 121 38% 9 55.5% - - - HMMPfam_MutS_V,HMMSmart_SM00534,superfamily_P-loop containing nucleoside triphosphate hydrolases VARS 7407 genome.wustl.edu 37 6 31748674 31748674 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000428445 -1 known p.R215* 0.780 77 0% 18 33.3% 148 42.5% - - - HMMPfam_tRNA-synt_1,superfamily_Nucleotidylyl transferase VARS 7407 genome.wustl.edu 37 6 31750923 31750923 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006295.2 -1 reviewed p.R571Q 1.000 37 0% 22 40.9% 87 33.3% probably_damaging(0.991) tolerated(0.05) deleterious(0.789) HMMPfam_tRNA-synt_1,superfamily_ValRS/IleRS/LeuRS editing domain,superfamily_Nucleotidylyl transferase VARS 7407 genome.wustl.edu 37 6 31752422 31752422 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006295.2 -1 reviewed p.R473C 1.000 44 0% 30 43.3% 69 43.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_tRNA-synt_1,superfamily_Nucleotidylyl transferase C6orf48 50854 genome.wustl.edu 37 6 31805192 31805192 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001040437.1 +1 validated p.A29 0.000 311 0% 151 28.5% 328 39.3% - - - NULL CFB 629 genome.wustl.edu 37 6 31914001 31914001 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001710.5 +1 reviewed p.M1I 0.856 236 0% 126 23.8% 5 0% unknown(0) - - NULL SKIV2L 6499 genome.wustl.edu 37 6 31933737 31933737 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006929.4 +1 reviewed p.L717M 0.996 42 0% 12 41.7% 20 55% possibly_damaging(0.49) deleterious(0) deleterious(0.608) superfamily_SSF52540 TNXB 7148 genome.wustl.edu 37 6 32017906 32017906 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019105.6 -1 reviewed p.A3101V 0.002 138 0% 81 22.2% 5 0% benign(0) tolerated(0.98) - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TNXB 7148 genome.wustl.edu 37 6 32023696 32023696 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019105.6 -1 reviewed p.Y2800C 1.000 55 0% 36 36.1% 7 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III FKBPL 63943 genome.wustl.edu 37 6 32096570 32096570 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022110.3 -1 reviewed p.V330I 0.801 372 0% 271 14.8% 7 28.5% benign(0) tolerated(0.58) neutral(0.005) superfamily_SSF48452 NOTCH4 4855 genome.wustl.edu 37 6 32168682 32168682 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004557.3 -1 reviewed p.A1414V 0.213 51 0% 30 40% 1 0% probably_damaging(0.977) deleterious(0) deleterious(0.863) HMMPfam_NODP TAP2 6891 genome.wustl.edu 37 6 32797232 32797232 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018833.2 -1 reviewed p.R626Q 0.007 106 0% 51 39.2% 19 26.3% probably_damaging(1) tolerated(0.37) deleterious(0.519) HMMPfam_ABC_tran,HMMSmart_AAA,superfamily_SSF52540 TAP1 6890 genome.wustl.edu 37 6 32816451 32816451 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000593.5 -1 reviewed p.R575H 0.000 219 0% 109 22% 75 24% benign(0.07) tolerated(0.07) neutral(0.324) superfamily_SSF52540 HLA-DMA 3108 genome.wustl.edu 37 6 32917492 32917492 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006120.3 -1 reviewed p.S183I 0.974 224 0.4% 154 10.4% 96 3.1% probably_damaging(0.981) deleterious(0) deleterious(0.870) HMMPfam_C1-set,HMMSmart_SM00407,superfamily_Immunoglobulin BRD2 6046 genome.wustl.edu 37 6 32940705 32940705 + Splice_Site SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001113182.1 +1 reviewed e1+1 1.000 63 0% 43 30.2% 28 96.4% - - - - BRD2 6046 genome.wustl.edu 37 6 32943284 32943284 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001113182.1 +1 reviewed p.Y153H 1.000 296 0.3% 158 31% 185 30.8% benign(0.161) deleterious(0) neutral(0.459) HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,PatternScan_BROMODOMAIN_1 HLA-DOA 3111 genome.wustl.edu 37 6 32975360 32975360 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002119.3 -1 reviewed p.R114Q 0.113 147 0% 67 25.4% 9 0% possibly_damaging(0.902) tolerated(0.06) deleterious(0.679) superfamily_SSF48726 HLA-DOA 3111 genome.wustl.edu 37 6 32975910 32975910 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002119.3 -1 reviewed p.L71M 0.999 90 0% 43 18.6% 7 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MHC_II_alpha,superfamily_MHC_I/II-like_Ag-recog SLC39A7 7922 genome.wustl.edu 37 6 33169602 33169602 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000445037 +1 known p.A70T 0.991 249 0% 142 14.8% 245 16.3% unknown(0) tolerated(0.1) - NULL WDR46 9277 genome.wustl.edu 37 6 33247083 33247083 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005452.5 -1 validated p.R601 0.266 103 0% 56 25% 60 30% - - - NULL WDR46 9277 genome.wustl.edu 37 6 33248524 33248524 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005452.5 -1 validated p.G452 0.896 54 0% 21 33.3% 35 40% - - - superfamily_WD40 repeat-like,HMMPfam_BING4CT KIFC1 3833 genome.wustl.edu 37 6 33372737 33372737 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002263.3 +1 validated p.R289C 0.994 121 0% 61 36.1% 33 69.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF52540 KIFC1 3833 genome.wustl.edu 37 6 33373360 33373360 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002263.3 +1 validated p.E496 1.000 57 1.8% 32 25% 51 7.8% - - - HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 SYNGAP1 8831 genome.wustl.edu 37 6 33406195 33406195 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006772.2 +1 reviewed e9-1 1.000 601 0% 302 30.1% 0 - - - - - SYNGAP1 8831 genome.wustl.edu 37 6 33410791 33410791 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006772.2 +1 reviewed p.C821Y 1.000 267 0.4% 124 21.8% 1 0% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL BAK1 578 genome.wustl.edu 37 6 33543594 33543594 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001188.3 -1 reviewed p.V61A 0.011 149 0% 85 28.2% 41 51.2% benign(0.001) tolerated(1) - superfamily_Bcl-2 inhibitors of programmed cell death ITPR3 3710 genome.wustl.edu 37 6 33626489 33626489 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002224.2 +1 validated p.R138W 1.000 283 0% 135 34.1% 3 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_MIR,HMMPfam_Ins145_P3_rec,HMMSmart_MIR ITPR3 3710 genome.wustl.edu 37 6 33630401 33630401 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002224.2 +1 validated p.R270C 1.000 65 0% 29 34.5% 3 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_MIR,superfamily_MIR,HMMSmart_MIR ITPR3 3710 genome.wustl.edu 37 6 33644639 33644639 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002224.2 +1 validated p.L1126P 1.000 35 0% 23 21.7% 10 60% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ITPR3 3710 genome.wustl.edu 37 6 33654849 33654849 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002224.2 +1 validated p.R2015* 1.000 111 0% 51 29.4% 18 11.1% - - - NULL IP6K3 117283 genome.wustl.edu 37 6 33690701 33690701 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142883.1 -1 reviewed p.P343 0.000 148 0% 81 25.9% 0 - - - - HMMPfam_IPK,superfamily_SAICAR synthase-like IP6K3 117283 genome.wustl.edu 37 6 33694611 33694611 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142883.1 -1 reviewed p.N162 0.000 103 0% 40 30% 1 0% - - - HMMPfam_IPK,superfamily_SAICAR synthase-like GRM4 2914 genome.wustl.edu 37 6 34003690 34003690 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000841.1 -1 reviewed p.R733W 1.000 92 1.1% 52 21.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_3 GRM4 2914 genome.wustl.edu 37 6 34003836 34003836 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000841.1 -1 reviewed p.G684D 1.000 127 0% 57 10.5% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_3 GRM4 2914 genome.wustl.edu 37 6 34004089 34004089 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000841.1 -1 reviewed p.A600T 0.966 46 0% 26 46.2% 0 - benign(0.023) tolerated(0.14) neutral(0.251) HMMPfam_7tm_3 SPDEF 25803 genome.wustl.edu 37 6 34511903 34511903 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012391.1 -1 provisional p.G110 0.022 65 0% 29 27.6% 406 42.8% - - - superfamily_SAM_homology UHRF1BP1 54887 genome.wustl.edu 37 6 34827168 34827168 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017754.3 +1 validated p.K1012M 1.000 166 0.6% 153 26.8% 6 0% possibly_damaging(0.491) deleterious(0.03) deleterious(0.528) NULL SCUBE3 222663 genome.wustl.edu 37 6 35200668 35200668 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152753.2 +1 provisional p.I171V 1.000 581 0% 295 26.8% 0 - probably_damaging(0.993) tolerated(0.07) deleterious(0.769) HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin SCUBE3 222663 genome.wustl.edu 37 6 35209437 35209437 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152753.2 +1 provisional e11+1 1.000 271 0% 147 30.6% 0 - - - - - SCUBE3 222663 genome.wustl.edu 37 6 35210097 35210097 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152753.2 +1 provisional p.G512C 1.000 185 0% 105 12.4% 1 0% possibly_damaging(0.686) deleterious(0) deleterious(0.690) NULL FANCE 2178 genome.wustl.edu 37 6 35426083 35426083 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021922.2 +1 reviewed p.L327M 0.068 296 0% 150 12.7% 22 0% probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL ARMC12 221481 genome.wustl.edu 37 6 35716393 35716393 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145028.3 +1 predicted p.R284W 1.000 329 0% 207 12.6% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_DUF634,superfamily_ARM-type_fold C6orf222 389384 genome.wustl.edu 37 6 36294423 36294423 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001010903.4 -1 validated p.N300 0.000 352 0% 164 35.4% 0 - - - - NULL C6orf222 389384 genome.wustl.edu 37 6 36297933 36297933 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001010903.4 -1 validated p.G179C 0.166 212 0% 113 36.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SRSF3 6428 genome.wustl.edu 37 6 36566723 36566723 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003017.4 +1 validated p.D102Y 1.000 199 0% 141 17% 378 20.1% unknown(0) deleterious(0) - superfamily_RNA-binding domain RBD CDKN1A 1026 genome.wustl.edu 37 6 36652083 36652083 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000389.3 +1 reviewed p.R69W 0.992 34 0% 22 50% 234 49.5% benign(0.006) tolerated(0.15) neutral(0.241) HMMPfam_CDI TMEM217 221468 genome.wustl.edu 37 6 37186424 37186424 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145316.3 -1 validated p.R128H 1.000 950 0% 498 26.5% 0 - probably_damaging(1) tolerated(0.33) deleterious(0.524) NULL MDGA1 266727 genome.wustl.edu 37 6 37622577 37622577 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153487.3 -1 validated p.T237 0.999 350 0.6% 174 27.6% 1 0% - - - superfamily_Immunoglobulin DNAH8 1769 genome.wustl.edu 37 6 38690688 38690688 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000373278 +1 known p.R35C 0.254 48 0% 22 27.3% 0 - benign(0.19) deleterious(0.03) neutral(0.383) NULL DNAH8 1769 genome.wustl.edu 37 6 38794124 38794124 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001371.2 +1 validated p.R1130H 1.000 452 0% 375 11.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DNAH8 1769 genome.wustl.edu 37 6 38906751 38906751 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001371.2 +1 validated p.Q3781H 0.964 207 0% 147 34% 0 - benign(0.054) tolerated(0.32) neutral(0.028) NULL KCNK5 8645 genome.wustl.edu 37 6 39159388 39159388 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003740.3 -1 reviewed p.R260W 1.000 128 0% 60 26.7% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF81324 KCNK5 8645 genome.wustl.edu 37 6 39159505 39159505 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003740.3 -1 reviewed p.A221T 0.978 114 0% 58 22.4% 5 40% benign(0.056) tolerated(0.42) neutral(0.018) HMMPfam_Ion_trans_2,superfamily_SSF81324 LRFN2 57497 genome.wustl.edu 37 6 40400033 40400033 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020737.1 -1 provisional p.R274C 0.995 60 0% 29 13.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00082,superfamily_L domain-like LRFN2 57497 genome.wustl.edu 37 6 40400647 40400647 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020737.1 -1 provisional p.R69H 1.000 51 0% 29 37.9% 0 - possibly_damaging(0.513) tolerated(0.08) deleterious(0.472) superfamily_L domain-like UNC5CL 222643 genome.wustl.edu 37 6 41002617 41002617 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173561.1 -1 provisional p.R66M 0.000 405 0% 206 14.1% 0 - possibly_damaging(0.809) deleterious(0.01) deleterious(0.710) NULL USP49 25862 genome.wustl.edu 37 6 41771645 41771645 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018561.3 -1 provisional p.V487A 0.949 276 0.4% 167 21% 1 0% benign(0) tolerated(0.99) - HMMPfam_UCH,superfamily_Cysteine proteinases MED20 9477 genome.wustl.edu 37 6 41877201 41877201 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004275.3 -1 validated p.A77T 1.000 253 0% 116 25% 12 16.6% benign(0.06) deleterious(0.04) neutral(0.353) HMMPfam_TATA_RF BYSL 705 genome.wustl.edu 37 6 41898472 41898472 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004053.3 +1 reviewed p.A224T 1.000 45 0% 23 26.1% 45 44.4% benign(0) tolerated(0.56) neutral(0.006) HMMPfam_Bystin GUCA1B 2979 genome.wustl.edu 37 6 42162517 42162517 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002098.5 -1 reviewed p.G14 0.399 118 0% 67 28.4% 2 100% - - - NULL TRERF1 55809 genome.wustl.edu 37 6 42236902 42236902 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033502.2 -1 reviewed p.L143M 1.000 469 0% 291 32.6% 3 66.6% possibly_damaging(0.634) deleterious(0) deleterious(0.666) NULL CNPY3 10695 genome.wustl.edu 37 6 42902327 42902327 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006586.3 +1 validated p.Y89C 1.000 145 0% 92 29.3% 59 54.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KLHDC3 116138 genome.wustl.edu 37 6 42985417 42985417 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000244670 +1 known p.S10Y 0.977 79 0% 43 30.2% 75 44% unknown(0) - - NULL CUL7 9820 genome.wustl.edu 37 6 43008397 43008397 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014780.4 -1 reviewed p.N1298 1.000 133 0% 59 35.6% 12 41.6% - - - HMMPfam_Cullin,superfamily_Cullin_homology CUL7 9820 genome.wustl.edu 37 6 43020440 43020440 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014780.4 -1 reviewed p.R29 0.019 116 0% 57 26.3% 3 0% - - - NULL CUL9 23113 genome.wustl.edu 37 6 43171267 43171267 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015089.2 +1 validated p.R1321Q 0.589 231 0% 83 21.7% 4 50% benign(0.231) deleterious(0) neutral(0.468) NULL CUL9 23113 genome.wustl.edu 37 6 43173834 43173834 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015089.2 +1 validated p.R1628H 1.000 195 0% 91 40.7% 8 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cullin,superfamily_Cullin homology domain CUL9 23113 genome.wustl.edu 37 6 43192057 43192057 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015089.2 +1 validated p.W2476* 1.000 170 0% 87 39.1% 12 75% - - - NULL C6orf108 10591 genome.wustl.edu 37 6 43193757 43193757 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_199184.1 -1 reviewed p.K130N 0.556 96 0% 48 33.3% 9 22.2% benign(0.164) deleterious(0) neutral(0.460) HMMPfam_Nuc_deoxyrib_tr TTBK1 84630 genome.wustl.edu 37 6 43251623 43251623 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032538.1 +1 validated p.G1049C 0.887 89 1.1% 39 30.8% 0 - probably_damaging(0.986) deleterious(0) deleterious(0.879) NULL ZNF318 24149 genome.wustl.edu 37 6 43307127 43307127 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014345.2 -1 validated p.R1537C 0.918 154 0% 98 26.5% 9 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TJAP1 93643 genome.wustl.edu 37 6 43466803 43466803 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080604.2 +1 reviewed p.R22C 1.000 147 0% 71 31% 13 30.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL POLH 5429 genome.wustl.edu 37 6 43550126 43550126 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006502.2 +1 reviewed p.R24W 1.000 216 0% 143 26.6% 12 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IMS,superfamily_DNA/RNA polymerases POLH 5429 genome.wustl.edu 37 6 43565510 43565510 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006502.2 +1 reviewed p.L190I 1.000 147 0% 68 26.5% 23 52.1% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_IMS,superfamily_DNA/RNA polymerases CAPN11 11131 genome.wustl.edu 37 6 44137063 44137063 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007058.3 +1 reviewed p.S45I 0.003 87 0% 43 18.6% 0 - possibly_damaging(0.887) tolerated(0.18) neutral(0.403) superfamily_SSF54001 CAPN11 11131 genome.wustl.edu 37 6 44144696 44144696 + Missense_Mutation SNP C C T rs185943934 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007058.3 +1 reviewed p.R400C 0.999 390 0% 169 37.3% 0 - probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_Calpain_III,HMMSmart_calpain_III,superfamily_Peptidase_C2 CAPN11 11131 genome.wustl.edu 37 6 44145080 44145080 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007058.3 +1 reviewed p.A447T 1.000 81 0% 45 20% 0 - possibly_damaging(0.893) deleterious(0) deleterious(0.796) HMMPfam_Calpain_III,HMMSmart_calpain_III,superfamily_Peptidase_C2 HSP90AB1 3326 genome.wustl.edu 37 6 44220860 44220860 + Missense_Mutation SNP C C T rs184003361 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007355.2 +1 provisional p.R604W 1.000 465 0.2% 223 22.4% 1694 42.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HSP90,superfamily_HSP90 C-terminal domain (C-terminal part of Pfam 00183) SLC35B2 347734 genome.wustl.edu 37 6 44222546 44222546 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178148.2 -1 validated p.A399V 1.000 222 0% 95 17.9% 60 50% benign(0.144) tolerated(0.51) neutral(0.021) HMMPfam_UAA,superfamily_Multidrug resistance efflux transporter EmrE NFKBIE 4794 genome.wustl.edu 37 6 44228217 44228217 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004556.2 -1 validated p.L390F 1.000 120 0% 54 33.3% 26 38.4% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK TCTE1 202500 genome.wustl.edu 37 6 44255379 44255379 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182539.3 -1 validated p.R62C 1.000 93 0% 42 45.2% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CDC5L 988 genome.wustl.edu 37 6 44390410 44390410 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001253.2 +1 reviewed p.L423P 1.000 408 0.2% 272 27.2% 51 47% benign(0.308) tolerated(0.3) neutral(0.124) NULL RCAN2 10231 genome.wustl.edu 37 6 46214616 46214616 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005822.2 -1 validated p.A101D 1.000 158 0.6% 129 14.7% 4 0% probably_damaging(0.973) tolerated(0.38) neutral(0.432) HMMPfam_Calcipressin SLC25A27 9481 genome.wustl.edu 37 6 46632563 46632563 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004277.3 +1 reviewed p.R187* 1.000 168 0.6% 103 33% 1 0% - - - superfamily_Mitochondrial carrier,HMMPfam_Mito_carr TDRD6 221400 genome.wustl.edu 37 6 46659617 46659617 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001010870.2 +1 validated p.F1251C 0.000 240 0% 113 25.7% 0 - benign(0.001) tolerated(0.2) neutral(0.049) NULL MUT 4594 genome.wustl.edu 37 6 49407933 49407933 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000255.3 -1 reviewed p.G648C 1.000 345 0% 224 26.3% 61 47.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_B12-binding,superfamily_Cobalamin (vitamin B12)-binding domain RHAG 6005 genome.wustl.edu 37 6 49578801 49578801 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000324.2 -1 reviewed p.G335S 1.000 191 0% 142 28.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ammonium_transp,superfamily_RH_like_transpt RHAG 6005 genome.wustl.edu 37 6 49604472 49604472 + Silent SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000324.2 -1 reviewed p.V18 1.000 255 0% 116 25.9% 0 - - - - HMMPfam_Ammonium_transp DEFB114 245928 genome.wustl.edu 37 6 49928011 49928011 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001037499.1 -1 provisional p.M68I 0.000 120 0% 99 30.3% 0 - benign(0) deleterious(0) neutral(0.445) NULL PKHD1 5314 genome.wustl.edu 37 6 51611650 51611650 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138694.3 -1 reviewed p.S3289 0.012 199 0% 150 18% 0 - - - - NULL PKHD1 5314 genome.wustl.edu 37 6 51613375 51613375 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138694.3 -1 reviewed p.S3013 1.000 313 0% 204 29.9% 1 0% - - - HMMSmart_SM00710,superfamily_Pectin lyase-like MCM3 4172 genome.wustl.edu 37 6 52138617 52138617 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002388.3 -1 reviewed p.P491H 1.000 263 0% 136 38.2% 118 58.4% possibly_damaging(0.924) deleterious(0.02) deleterious(0.756) HMMPfam_MCM,HMMSmart_MCM,superfamily_SSF52540 PAQR8 85315 genome.wustl.edu 37 6 52268183 52268183 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133367.4 +1 validated p.T58A 0.986 73 1.4% 37 24.3% 3 33.3% benign(0.015) tolerated(0.43) neutral(0.014) NULL GSTA1 2938 genome.wustl.edu 37 6 52658982 52658982 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145740.3 -1 reviewed p.A119T 0.019 918 0% 564 28.2% 5 40% benign(0.002) tolerated(0.38) neutral(0.018) HMMPfam_GST_C,superfamily_Glutathione S-transferase (GST) C-terminal domain FBXO9 26268 genome.wustl.edu 37 6 52945854 52945854 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012347.4 +1 reviewed p.L176M 1.000 149 0% 110 28.2% 41 41.4% possibly_damaging(0.753) tolerated(0.11) deleterious(0.548) NULL GCM1 8521 genome.wustl.edu 37 6 52998920 52998920 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003643.3 -1 reviewed p.K93T 1.000 112 0% 74 29.7% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_GCM,superfamily_GCM_motif ELOVL5 60481 genome.wustl.edu 37 6 53139937 53139937 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021814.3 -1 provisional p.S149 0.993 160 0% 72 29.2% 172 59.8% - - - HMMPfam_ELO LRRC1 55227 genome.wustl.edu 37 6 53785495 53785495 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018214.4 +1 validated p.A451V 0.974 186 0.5% 114 33.3% 43 48.8% benign(0) tolerated(0.25) neutral(0.037) NULL FAM83B 222584 genome.wustl.edu 37 6 54805207 54805207 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001010872.1 +1 validated p.R480* 0.946 314 0% 259 31.7% 7 28.5% - - - NULL FAM83B 222584 genome.wustl.edu 37 6 54805754 54805754 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001010872.1 +1 validated p.R662M 1.000 353 0% 300 27% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GFRAL 389400 genome.wustl.edu 37 6 55216247 55216247 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207410.2 +1 validated p.C189 1.000 726 0.1% 582 32.6% 0 - - - - HMMPfam_GDNF,superfamily_SSF110035 HMGCLL1 54511 genome.wustl.edu 37 6 55360388 55360388 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019036.2 -1 validated p.Y238 0.038 144 0.7% 88 31.8% 0 - - - - HMMPfam_HMGL-like,superfamily_Aldolase BMP5 653 genome.wustl.edu 37 6 55739501 55739501 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021073.2 -1 reviewed p.I55L 1.000 521 0% 410 28.3% 0 - probably_damaging(0.983) deleterious(0.02) deleterious(0.812) HMMPfam_TGFb_propeptide COL21A1 81578 genome.wustl.edu 37 6 55922544 55922544 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030820.3 -1 reviewed p.Q929* 0.853 77 0% 65 12.3% 6 0% - - - NULL DST 667 genome.wustl.edu 37 6 56346879 56346879 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015548.4 -1 reviewed p.D4544G 1.000 104 0% 57 29.8% 7 0% possibly_damaging(0.62) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DST 667 genome.wustl.edu 37 6 56376192 56376192 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015548.4 -1 reviewed p.R3572C 1.000 53 0% 48 31.2% 3 0% probably_damaging(1) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DST 667 genome.wustl.edu 37 6 56476332 56476332 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015548.4 -1 reviewed p.Q1170H 0.985 158 0% 106 17% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Spectrin repeat DST 667 genome.wustl.edu 37 6 56507549 56507549 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015548.4 -1 reviewed p.S13Y 1.000 212 0% 168 10.7% 0 - probably_damaging(0.976) deleterious(0) deleterious(0.863) NULL DST 667 genome.wustl.edu 37 6 56535537 56535537 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000370769 -1 known p.T161 0.919 176 0% 115 21.7% 0 - - - - HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain KIAA1586 57691 genome.wustl.edu 37 6 56918496 56918496 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020931.2 +1 validated p.S400Y 1.000 259 0% 151 15.9% 4 0% probably_damaging(0.993) deleterious(0.03) deleterious(0.815) NULL ZNF451 26036 genome.wustl.edu 37 6 57015533 57015533 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001031623.2 +1 validated p.E875 1.000 444 0% 300 30% 7 57.1% - - - NULL PHF3 23469 genome.wustl.edu 37 6 64394054 64394054 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015153.2 +1 provisional p.S144I 1.000 498 0% 378 30.4% 8 37.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL PHF3 23469 genome.wustl.edu 37 6 64395806 64395806 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015153.2 +1 provisional p.G728V 1.000 181 0% 125 28.8% 9 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD BAI3 577 genome.wustl.edu 37 6 69653726 69653726 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001704.2 +1 reviewed p.H345 1.000 346 0.3% 248 25.8% 0 - - - - superfamily_TSP-1 type 1 repeat BAI3 577 genome.wustl.edu 37 6 69703841 69703841 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001704.2 +1 reviewed p.S639Y 1.000 454 0% 251 27.9% 0 - probably_damaging(0.977) deleterious(0.03) deleterious(0.783) NULL BAI3 577 genome.wustl.edu 37 6 69944946 69944946 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001704.2 +1 reviewed p.P877H 1.000 501 0% 283 26.1% 0 - probably_damaging(0.992) tolerated(0.22) deleterious(0.489) HMMPfam_7tm_2 BAI3 577 genome.wustl.edu 37 6 70071307 70071307 + Missense_Mutation SNP G G A rs183570911 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001704.2 +1 reviewed p.R1381H 1.000 366 0% 321 25.2% 0 - probably_damaging(0.998) tolerated(0.16) deleterious(0.534) NULL LMBRD1 55788 genome.wustl.edu 37 6 70500286 70500286 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018368.3 -1 reviewed p.A50S 1.000 221 0% 124 27.4% 20 55% benign(0.052) tolerated(0.28) neutral(0.035) HMMPfam_LMBR1 COL19A1 1310 genome.wustl.edu 37 6 70672744 70672744 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001858.4 +1 reviewed p.K336N 1.000 143 0% 78 26.9% 0 - unknown(0) tolerated(0.16) - HMMPfam_Collagen COL19A1 1310 genome.wustl.edu 37 6 70866102 70866102 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001858.4 +1 reviewed p.K721 0.001 137 0% 115 34.8% 0 - - - - NULL COL19A1 1310 genome.wustl.edu 37 6 70897784 70897784 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001858.4 +1 reviewed p.D954E 1.000 263 0% 164 29.9% 0 - probably_damaging(0.999) tolerated(1) deleterious(0.490) HMMPfam_Collagen COL9A1 1297 genome.wustl.edu 37 6 70978515 70978515 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001851.4 -1 reviewed p.G427C 1.000 81 0% 48 14.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Collagen COL9A1 1297 genome.wustl.edu 37 6 71011743 71011743 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001851.4 -1 reviewed p.L17M 0.971 67 0% 57 10.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FAM135A 57579 genome.wustl.edu 37 6 71234984 71234984 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001105531.2 +1 validated p.R537* 0.998 412 0% 253 16.2% 2 0% - - - NULL RIMS1 22999 genome.wustl.edu 37 6 72806711 72806711 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014989.4 +1 reviewed p.A102V 1.000 68 0% 51 31.4% 0 - benign(0.223) tolerated(0.06) neutral(0.345) superfamily_FYVE/PHD zinc finger RIMS1 22999 genome.wustl.edu 37 6 72806763 72806763 + Nonsense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014989.4 +1 reviewed p.C119* 0.940 72 0% 47 19.1% 0 - - - - superfamily_FYVE/PHD zinc finger RIMS1 22999 genome.wustl.edu 37 6 73001734 73001734 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014989.4 +1 reviewed p.G1279S 0.966 12 0.000 8 0.500 0 - benign(0) tolerated(0.21) neutral(0.044) NULL DDX43 55510 genome.wustl.edu 37 6 74123382 74123382 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018665.2 +1 reviewed p.A457D 1.000 198 0% 123 26.8% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_DEXDc,superfamily_SSF52540 SLC17A5 26503 genome.wustl.edu 37 6 74320172 74320172 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012434.4 -1 reviewed p.G404C 1.000 495 0.2% 336 29.2% 42 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MFS_1,superfamily_MFS general substrate transporter COL12A1 1303 genome.wustl.edu 37 6 75797371 75797371 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004370.5 -1 reviewed p.R3035* 0.988 221 0% 107 28% 36 2.7% - - - HMMPfam_Collagen COL12A1 1303 genome.wustl.edu 37 6 75823336 75823336 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004370.5 -1 reviewed p.V2608F 1.000 277 0% 257 12.8% 22 4.5% possibly_damaging(0.928) - - HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases COL12A1 1303 genome.wustl.edu 37 6 75840677 75840677 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004370.5 -1 reviewed p.T1986 0.003 351 0% 289 13.1% 14 28.5% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III COL12A1 1303 genome.wustl.edu 37 6 75855908 75855908 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004370.5 -1 reviewed p.M1490I 1.000 184 0% 112 24.1% 11 18.1% possibly_damaging(0.931) - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III COL12A1 1303 genome.wustl.edu 37 6 75898213 75898213 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004370.5 -1 reviewed p.A288T 1.000 463 0% 314 14% 0 - probably_damaging(0.995) - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like TMEM30A 55754 genome.wustl.edu 37 6 75969182 75969182 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018247.3 -1 validated p.G189D 0.867 226 0% 140 23.6% 119 32.7% benign(0) tolerated(0.66) neutral(0.003) HMMPfam_CDC50 FILIP1 27145 genome.wustl.edu 37 6 76022797 76022797 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015687.2 -1 validated p.D917 0.870 481 0% 298 10.4% 2 0% - - - NULL FILIP1 27145 genome.wustl.edu 37 6 76023161 76023161 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015687.2 -1 validated p.V796A 1.000 724 0.1% 483 30% 3 100% benign(0.036) tolerated(0.66) neutral(0.005) NULL FILIP1 27145 genome.wustl.edu 37 6 76024300 76024300 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015687.2 -1 validated p.H416 1.000 750 0.1% 509 12.4% 2 0% - - - HMMPfam_CortBP2 IMPG1 3617 genome.wustl.edu 37 6 76640702 76640702 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001563.2 -1 provisional p.C737 0.631 151 0% 72 31.9% 0 - - - - NULL HTR1B 3351 genome.wustl.edu 37 6 78172856 78172856 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000863.1 -1 provisional p.A89T 1.000 72 0% 38 26.3% 0 - probably_damaging(0.983) tolerated(0.15) deleterious(0.670) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like LCA5 167691 genome.wustl.edu 37 6 80197184 80197184 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001122769.2 -1 reviewed p.S544N 0.006 341 0% 247 26.7% 1 100% benign(0.021) tolerated(0.06) neutral(0.324) NULL ELOVL4 6785 genome.wustl.edu 37 6 80629239 80629239 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022726.3 -1 reviewed p.S189 0.107 181 0% 136 28.7% 0 - - - - HMMPfam_ELO ELOVL4 6785 genome.wustl.edu 37 6 80631354 80631354 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022726.3 -1 reviewed p.A177T 0.994 393 0% 264 12.9% 0 - benign(0.358) deleterious(0) deleterious(0.558) HMMPfam_ELO TTK 7272 genome.wustl.edu 37 6 80715832 80715832 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000509313 +1 known p.L50 0.000 96 0% 55 21.8% 0 - - - - NULL TTK 7272 genome.wustl.edu 37 6 80745011 80745011 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003318.4 +1 reviewed p.V601I 1.000 242 0% 159 22.6% 13 53.8% possibly_damaging(0.915) tolerated(0.11) deleterious(0.638) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase TTK 7272 genome.wustl.edu 37 6 80745068 80745068 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003318.4 +1 reviewed p.D620N 0.971 222 0% 156 28.8% 17 35.2% benign(0) tolerated(1) - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase BCKDHB 594 genome.wustl.edu 37 6 80881055 80881055 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000056.3 +1 reviewed p.E230D 1.000 155 0% 129 26.4% 18 38.8% benign(0) tolerated(0.05) neutral(0.345) HMMPfam_Transket_pyr,superfamily_Thiamin diphosphate-binding fold (THDP-binding) FAM46A 55603 genome.wustl.edu 37 6 82461384 82461384 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017633.2 -1 validated p.D159N 1.000 103 0% 53 43.4% 2 50% benign(0.043) deleterious(0.02) neutral(0.386) HMMPfam_DUF1693 IBTK 25998 genome.wustl.edu 37 6 82883146 82883146 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015525.2 -1 reviewed p.T1245 0.000 290 0% 201 13.9% 22 27.2% - - - NULL IBTK 25998 genome.wustl.edu 37 6 82906075 82906075 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015525.2 -1 reviewed p.G1038 0.998 346 0% 234 23.5% 19 68.4% - - - NULL IBTK 25998 genome.wustl.edu 37 6 82949934 82949934 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015525.2 -1 reviewed p.L90 1.000 208 0% 134 23.9% 3 66.6% - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat UBE3D 90025 genome.wustl.edu 37 6 83748144 83748144 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198920.1 -1 provisional p.V220M 0.001 225 0.4% 94 27.7% 5 100% benign(0.005) tolerated(0.19) neutral(0.050) HMMPfam_DUF2351 DOPEY1 23033 genome.wustl.edu 37 6 83810482 83810482 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015018.2 +1 validated p.R66H 1.000 981 0.1% 587 26.9% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Dopey_N PGM3 5238 genome.wustl.edu 37 6 83900663 83900663 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015599.1 -1 provisional p.Y23 1.000 212 0% 135 23% 37 59.4% - - - NULL CYB5R4 51167 genome.wustl.edu 37 6 84573929 84573929 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016230.3 +1 validated p.W37C 1.000 230 0% 156 25% 10 40% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CYB5R4 51167 genome.wustl.edu 37 6 84646027 84646027 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016230.3 +1 validated p.Y347C 0.871 157 0% 115 28.7% 14 50% benign(0.001) tolerated(0.18) neutral(0.056) HMMPfam_FAD_binding_6,superfamily_Riboflavin_synthase_like_b-brl MRAP2 112609 genome.wustl.edu 37 6 84765156 84765156 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138409.2 +1 validated p.A40V 1.000 272 0.4% 177 32.2% 1 0% benign(0.236) deleterious(0.02) neutral(0.407) NULL KIAA1009 22832 genome.wustl.edu 37 6 84865054 84865054 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014895.2 -1 validated p.S986N 1.000 377 0% 300 28.3% 7 14.2% probably_damaging(0.994) tolerated(0.31) deleterious(0.479) NULL SNX14 57231 genome.wustl.edu 37 6 86224335 86224335 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153816.3 -1 reviewed p.L761M 1.000 317 0% 239 15.9% 70 34.2% benign(0.323) tolerated(0.07) neutral(0.420) NULL SNX14 57231 genome.wustl.edu 37 6 86251761 86251761 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153816.3 -1 reviewed p.Y464H 1.000 75 0% 43 27.9% 46 36.9% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS LOC100286905 100286905 genome.wustl.edu 37 6 87925694 87925694 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002342650.1 -1 model e2-1 1.000 274 0% 170 30% 6 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) - ZNF292 23036 genome.wustl.edu 37 6 87965842 87965842 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015021.1 +1 validated p.S832N 0.001 209 0% 151 26.5% 6 33.3% benign(0) tolerated(1) - superfamily_C2H2 and C2HC zinc fingers ZNF292 23036 genome.wustl.edu 37 6 87966547 87966547 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015021.1 +1 validated p.T1067I 1.000 414 0% 290 31% 5 60% possibly_damaging(0.68) deleterious(0) deleterious(0.687) NULL ZNF292 23036 genome.wustl.edu 37 6 87969398 87969398 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015021.1 +1 validated p.K2017N 0.000 67 0% 48 20.8% 17 52.9% benign(0) tolerated(0.15) neutral(0.241) NULL ZNF292 23036 genome.wustl.edu 37 6 87971050 87971050 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015021.1 +1 validated p.A2568D 1.000 274 0% 182 15.4% 30 43.3% probably_damaging(0.998) tolerated(0.11) deleterious(0.746) NULL GJB7 375519 genome.wustl.edu 37 6 87994456 87994456 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198568.2 -1 validated p.G59S 1.000 734 0.1% 416 26.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Connexin,HMMSmart_CNX C6orf165 154313 genome.wustl.edu 37 6 88123610 88123610 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001031743.2 +1 validated p.T92M 1.000 139 0% 61 36.1% 3 66.6% probably_damaging(1) tolerated(0.05) deleterious(0.845) NULL C6orf165 154313 genome.wustl.edu 37 6 88138501 88138501 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001031743.2 +1 validated p.A373V 0.004 226 0% 157 29.9% 6 0% benign(0) tolerated(1) - NULL RARS2 57038 genome.wustl.edu 37 6 88255353 88255353 + Silent SNP G G A rs140354649 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000451155 -1 known p.A200V 0.898 782 0% 518 23.2% 45 53.3% - - - HMMPfam_tRNA-synt_1d,superfamily_Nucleotidylyl transferase CNR1 1268 genome.wustl.edu 37 6 88854904 88854904 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033181.3 -1 reviewed p.T25M 1.000 251 0% 134 29.9% 0 - benign(0.016) tolerated(0.06) neutral(0.323) NULL PNRC1 10957 genome.wustl.edu 37 6 89793509 89793509 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006813.2 +1 validated p.A193V 0.435 164 0% 82 20.7% 51 37.2% benign(0.012) tolerated(0.13) neutral(0.253) NULL PM20D2 135293 genome.wustl.edu 37 6 89871872 89871872 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001010853.1 +1 validated p.L401 0.997 408 0% 248 32.7% 15 33.3% - - - superfamily_Zn-dependent exopeptidases GABRR1 2569 genome.wustl.edu 37 6 89890125 89890125 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002042.3 -1 reviewed p.V344 1.000 212 0% 109 33% 1 0% - - - HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore UBE2J1 51465 genome.wustl.edu 37 6 90053414 90053414 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016021.2 -1 reviewed p.A31 0.658 202 0.5% 127 32.3% 50 38% - - - HMMPfam_UQ_con,HMMSmart_UBCc,superfamily_UBQ-conjugat/RWD-like MDN1 23195 genome.wustl.edu 37 6 90384174 90384174 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014611.1 -1 provisional p.I4299T 0.986 61 0% 39 15.4% 11 63.6% benign(0.001) tolerated(0.38) neutral(0.018) NULL MDN1 23195 genome.wustl.edu 37 6 90421758 90421758 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014611.1 -1 provisional p.L2550F 1.000 1372 0.1% 974 26.5% 2 0% probably_damaging(0.983) tolerated(0.17) deleterious(0.488) NULL MDN1 23195 genome.wustl.edu 37 6 90422344 90422344 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014611.1 -1 provisional p.I2460 1.000 934 0.1% 594 26.4% 1 100% - - - NULL MDN1 23195 genome.wustl.edu 37 6 90433284 90433284 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014611.1 -1 provisional p.F1909L 1.000 194 0.5% 100 11% 0 - probably_damaging(0.987) tolerated(0.05) deleterious(0.782) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases GJA10 84694 genome.wustl.edu 37 6 90604651 90604651 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032602.1 +1 validated p.R155H 1.000 616 0.2% 349 15.5% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL BACH2 60468 genome.wustl.edu 37 6 90642470 90642470 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021813.2 -1 validated p.R728Q 1.000 96 0% 51 11.8% 0 - probably_damaging(0.989) deleterious(0.04) deleterious(0.788) NULL EPHA7 2045 genome.wustl.edu 37 6 93955045 93955045 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004440.3 -1 reviewed p.S951 0.997 155 0.6% 94 20.2% 9 11.1% - - - HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain EPHA7 2045 genome.wustl.edu 37 6 93967892 93967892 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004440.3 -1 reviewed p.F679I 1.000 173 0% 119 27.7% 23 39.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) EPHA7 2045 genome.wustl.edu 37 6 93973600 93973600 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004440.3 -1 reviewed p.G592 0.837 203 0% 176 19.3% 19 52.6% - - - NULL EPHA7 2045 genome.wustl.edu 37 6 94120851 94120851 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004440.3 -1 reviewed p.P67L 1.000 213 0% 144 20.1% 13 38.4% probably_damaging(0.999) tolerated(0.27) deleterious(0.524) HMMPfam_Ephrin_lbd,HMMSmart_SM00615,superfamily_Galactose-binding domain-like MANEA 79694 genome.wustl.edu 37 6 96053888 96053888 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024641.2 +1 validated p.G332 1.000 351 0% 180 30.6% 15 46.6% - - - NULL FHL5 9457 genome.wustl.edu 37 6 97058478 97058478 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020482.4 +1 reviewed p.D179N 1.000 357 0.3% 230 35.7% 0 - benign(0.004) tolerated(0.24) neutral(0.037) HMMPfam_LIM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,superfamily_SSF57716 MMS22L 253714 genome.wustl.edu 37 6 97711233 97711233 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198468.2 -1 predicted p.R307K 1.000 325 0% 172 26.7% 3 33.3% probably_damaging(0.998) tolerated(0.33) deleterious(0.498) NULL MMS22L 253714 genome.wustl.edu 37 6 97715765 97715765 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198468.2 -1 predicted p.L271I 0.985 174 0% 110 32.7% 4 50% benign(0.006) tolerated(0.48) neutral(0.011) NULL COQ3 51805 genome.wustl.edu 37 6 99823892 99823892 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017421.3 -1 validated p.A218V 0.997 364 0% 277 25.3% 9 77.7% benign(0.002) tolerated(0.73) neutral(0.002) HMMPfam_Methyltransf_11,superfamily_S-adenosyl-L-methionine-dependent methyltransferases ASCC3 10973 genome.wustl.edu 37 6 100957933 100957933 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006828.2 -1 validated p.D2112 1.000 1177 0% 680 27.1% 44 25% - - - HMMPfam_Sec63,HMMSmart_SEC63 ASCC3 10973 genome.wustl.edu 37 6 101073174 101073174 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006828.2 -1 validated p.I1560R 1.000 179 0% 118 41.5% 37 43.2% possibly_damaging(0.892) deleterious(0) deleterious(0.796) superfamily_SSF52540 ASCC3 10973 genome.wustl.edu 37 6 101247440 101247440 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006828.2 -1 validated p.A379V 1.000 136 0% 105 25.7% 4 25% benign(0.271) tolerated(0.09) neutral(0.326) superfamily_SSF52540 GRIK2 2898 genome.wustl.edu 37 6 102247632 102247632 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021956.4 +1 reviewed p.R354H 1.000 244 0% 151 31.8% 1 0% benign(0.013) tolerated(0.12) neutral(0.261) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I GRIK2 2898 genome.wustl.edu 37 6 102376334 102376334 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021956.4 +1 reviewed p.G638C 1.000 196 0% 113 21.2% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lig_chan,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II PREP 5550 genome.wustl.edu 37 6 105800936 105800936 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002726.3 -1 reviewed p.R245H 1.000 384 0% 254 28% 36 47.2% possibly_damaging(0.92) tolerated(0.11) deleterious(0.643) HMMPfam_Peptidase_S9_N,superfamily_Peptidase_S9A_N PRDM1 639 genome.wustl.edu 37 6 106553146 106553146 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001198.3 +1 reviewed p.R371 0.920 202 0% 109 22.9% 8 0% - - - NULL AIM1 202 genome.wustl.edu 37 6 106975249 106975249 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001624.2 +1 validated p.L1086 0.814 410 0% 284 31.3% 6 50% - - - HMMSmart_XTALbg,superfamily_G_crystallin_SF AIM1 202 genome.wustl.edu 37 6 106991388 106991388 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001624.2 +1 validated p.M1244T 0.000 413 0% 243 23.9% 7 57.1% benign(0) tolerated(0.57) neutral(0.006) HMMPfam_Crystall,HMMSmart_XTALbg,superfamily_G_crystallin_SF QRSL1 55278 genome.wustl.edu 37 6 107100261 107100261 + Splice_Site SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018292.4 +1 validated e6+2 1.000 285 0% 149 28.9% 0 - - - - - SOBP 55084 genome.wustl.edu 37 6 107827509 107827509 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018013.3 +1 validated p.T100I 1.000 451 0% 257 31.1% 2 0% benign(0) tolerated(0.13) neutral(0.253) NULL OSTM1 28962 genome.wustl.edu 37 6 108385427 108385427 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014028.3 -1 reviewed p.E160G 0.996 150 0% 103 28.2% 18 33.3% benign(0.291) tolerated(0.09) neutral(0.386) HMMPfam_OSTMP1 SNX3 8724 genome.wustl.edu 37 6 108533357 108533357 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003795.4 -1 reviewed p.A162V 1.000 61 0% 40 20% 171 14.6% benign(0) deleterious(0.01) neutral(0.406) NULL SNX3 8724 genome.wustl.edu 37 6 108544180 108544180 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003795.4 -1 reviewed p.R78* 0.531 110 0% 63 36.5% 134 15.6% - - - HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain CEP57L1 285753 genome.wustl.edu 37 6 109471385 109471385 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001083535.1 +1 validated p.Y135 1.000 380 0% 288 27.8% 15 60% - - - HMMPfam_DUF1167 MICAL1 64780 genome.wustl.edu 37 6 109765995 109765995 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022765.3 -1 validated p.Q996H 0.864 89 0% 31 25.8% 17 11.7% benign(0.293) deleterious(0.01) deleterious(0.496) NULL LOC100287481 100287481 genome.wustl.edu 37 6 109787007 109787007 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002342664.1 +1 model p.S63R 0.001 177 0% 124 24.2% 8 12.5% - - - NULL ZBTB24 9841 genome.wustl.edu 37 6 109787240 109787240 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014797.2 -1 validated p.H636 0.903 295 0.3% 169 29.6% 15 40% - - - NULL FIG4 9896 genome.wustl.edu 37 6 110112621 110112621 + Silent SNP G G A rs181012139 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014845.5 +1 reviewed p.T741 0.000 156 0% 72 26.4% 31 35.4% - - - NULL RPF2 84154 genome.wustl.edu 37 6 111346616 111346616 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032194.1 +1 validated p.K251T 1.000 249 0.4% 159 17.6% 52 23% benign(0.074) tolerated(0.07) neutral(0.324) NULL REV3L 5980 genome.wustl.edu 37 6 111688745 111688745 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002912.3 -1 validated p.T2082 0.439 879 0% 560 14.8% 30 33.3% - - - superfamily_Ribonuclease H-like REV3L 5980 genome.wustl.edu 37 6 111695324 111695324 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002912.3 -1 validated p.D1412Y 0.921 510 0.2% 310 25.2% 11 36.3% possibly_damaging(0.688) deleterious(0) deleterious(0.691) superfamily_Ribonuclease H-like FYN 2534 genome.wustl.edu 37 6 112041008 112041008 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002037.3 -1 reviewed p.G83* 1.000 209 0% 126 32.5% 5 0% - - - superfamily_SH3-domain LAMA4 3910 genome.wustl.edu 37 6 112463373 112463373 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001105206.1 -1 reviewed p.P872Q 0.656 224 0% 101 12.9% 6 0% benign(0.002) deleterious(0.01) neutral(0.406) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases COL10A1 1300 genome.wustl.edu 37 6 116442906 116442906 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000493.3 -1 reviewed p.P125S 0.994 82 0% 36 22.2% 0 - unknown(0) tolerated(0.64) - HMMPfam_Collagen NT5DC1 221294 genome.wustl.edu 37 6 116560210 116560210 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152729.2 +1 reviewed p.S392 0.040 180 0% 122 31.1% 29 41.3% - - - HMMPfam_5_nucleotid DSE 29940 genome.wustl.edu 37 6 116720638 116720638 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080976.1 +1 reviewed p.V75 1.000 156 0% 65 33.8% 14 21.4% - - - NULL DSE 29940 genome.wustl.edu 37 6 116758416 116758416 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080976.1 +1 reviewed p.L929I 1.000 191 0% 132 10.6% 12 8.3% benign(0.403) tolerated(0.08) neutral(0.429) NULL RSPH4A 345895 genome.wustl.edu 37 6 116938400 116938400 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001010892.2 +1 reviewed p.S205N 0.990 226 0% 133 23.3% 1 100% benign(0.011) tolerated(0.16) neutral(0.060) NULL RSPH4A 345895 genome.wustl.edu 37 6 116950802 116950802 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001010892.2 +1 reviewed p.D579N 1.000 620 0% 394 28.9% 0 - benign(0) tolerated(0.46) neutral(0.012) HMMPfam_Radial_spoke GPRC6A 222545 genome.wustl.edu 37 6 117113379 117113379 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_148963.2 -1 validated p.F903V 0.000 601 0% 421 29.5% 0 - benign(0.059) tolerated(0.19) neutral(0.054) NULL RFX6 222546 genome.wustl.edu 37 6 117252580 117252580 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173560.2 +1 validated p.D900N 1.000 294 0% 211 27% 0 - benign(0.086) tolerated(0.09) neutral(0.303) NULL VGLL2 245806 genome.wustl.edu 37 6 117586968 117586968 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182645.2 +1 provisional p.P14 0.999 49 0% 31 35.5% 0 - - - - NULL ROS1 6098 genome.wustl.edu 37 6 117683785 117683785 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002944.2 -1 reviewed p.R1121I 0.127 172 0% 102 26.5% 1 0% benign(0.014) tolerated(0.08) neutral(0.300) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like FAM184A 79632 genome.wustl.edu 37 6 119324078 119324078 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024581.4 -1 validated p.D692N 1.000 482 0% 328 10.7% 0 - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL FAM184A 79632 genome.wustl.edu 37 6 119341237 119341237 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024581.4 -1 validated p.R413I 1.000 329 0% 142 25.4% 2 50% possibly_damaging(0.906) deleterious(0.02) deleterious(0.742) NULL MAN1A1 4121 genome.wustl.edu 37 6 119510928 119510928 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005907.2 -1 reviewed p.A483T 1.000 206 0% 108 14.8% 12 25% probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 GJA1 2697 genome.wustl.edu 37 6 121768256 121768256 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000165.3 +1 reviewed p.P88L 1.000 184 0% 117 23.9% 90 28.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Connexin SERINC1 57515 genome.wustl.edu 37 6 122775343 122775343 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020755.2 -1 provisional p.A135V 1.000 192 0% 118 22% 93 51.6% benign(0.08) deleterious(0) neutral(0.450) HMMPfam_Serinc CLVS2 134829 genome.wustl.edu 37 6 123377088 123377088 + Silent SNP C C T rs147426485 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001010852.2 +1 provisional p.D271 0.996 616 0% 386 35% 0 - - - - superfamily_CRAL/TRIO domain TPD52L1 7164 genome.wustl.edu 37 6 125550387 125550387 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003287.2 +1 reviewed p.W87R 1.000 192 0% 172 27.3% 103 51.4% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_TPD52 HEY2 23493 genome.wustl.edu 37 6 126080799 126080799 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012259.2 +1 reviewed p.L289F 1.000 127 0% 93 31.2% 23 26% benign(0.013) tolerated(0.25) neutral(0.037) NULL NCOA7 135112 genome.wustl.edu 37 6 126210870 126210870 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181782.3 +1 validated p.D557G 1.000 417 0% 288 31.6% 1 0% possibly_damaging(0.692) deleterious(0.01) deleterious(0.653) NULL TRMT11 60487 genome.wustl.edu 37 6 126317187 126317187 + Splice_Site SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001031712.2 +1 validated e3+1 1.000 206 0% 148 23.6% 0 - - - - - RNF146 81847 genome.wustl.edu 37 6 127608246 127608246 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030963.2 +1 provisional p.R162H 1.000 301 0.3% 266 22.6% 25 28% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_WWE,HMMSmart_WWE KIAA0408 9729 genome.wustl.edu 37 6 127775019 127775019 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014702.4 -1 validated p.W36C 1.000 358 0% 279 23.3% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL SOGA3 387104 genome.wustl.edu 37 6 127796906 127796906 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001012279.2 -1 validated p.S755 1.000 17 0% 11 45.5% 0 - - - - NULL SOGA3 387104 genome.wustl.edu 37 6 127797028 127797028 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001012279.2 -1 validated p.L715F 1.000 45 0% 20 40% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL THEMIS 387357 genome.wustl.edu 37 6 128134518 128134518 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001010923.2 -1 reviewed p.A423D 0.007 405 0.2% 263 30% 1 0% benign(0.002) tolerated(0.62) neutral(0.004) NULL PTPRK 5796 genome.wustl.edu 37 6 128294275 128294275 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001135648.1 -1 validated p.F1393L 1.000 179 0% 124 27.4% 17 64.7% probably_damaging(0.973) deleterious(0) deleterious(0.859) HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 PTPRK 5796 genome.wustl.edu 37 6 128320022 128320022 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001135648.1 -1 validated p.S841Y 1.000 167 0% 130 25.4% 19 36.8% possibly_damaging(0.757) deleterious(0.01) deleterious(0.685) NULL EPB41L2 2037 genome.wustl.edu 37 6 131190997 131190997 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001431.3 -1 validated p.Q771H 1.000 627 0.5% 341 27.3% 34 35.2% possibly_damaging(0.909) deleterious(0.04) deleterious(0.711) NULL ENPP3 5169 genome.wustl.edu 37 6 131971171 131971171 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005021.3 +1 reviewed p.S53R 1.000 206 0% 188 33.5% 60 66.6% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_Somatomedin_B,HMMSmart_SO,superfamily_SSF90188 ENPP3 5169 genome.wustl.edu 37 6 132039863 132039863 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005021.3 +1 reviewed p.E488D 0.607 238 0% 106 23.6% 73 24.6% benign(0.018) tolerated(0.61) neutral(0.005) superfamily_Alkaline_phosphatase_core ENPP1 5167 genome.wustl.edu 37 6 132196953 132196953 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006208.2 +1 reviewed p.G558D 0.004 136 0% 93 19.4% 8 25% benign(0.039) tolerated(0.47) neutral(0.013) superfamily_Alkaline_phosphatase_core ENPP1 5167 genome.wustl.edu 37 6 132206137 132206137 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006208.2 +1 reviewed p.V793D 0.999 182 0.5% 135 25.9% 13 46.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_NUC,superfamily_SSF54060 LOC100131774 100131774 genome.wustl.edu 37 6 132270488 132270488 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_001717693.2 +1 model p.G135C 1.000 175 0% 77 40.3% 114 7% - - - NULL TAAR9 134860 genome.wustl.edu 37 6 132859636 132859636 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175057.3 +1 reviewed p.L70 1.000 258 0% 149 30.9% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TAAR5 9038 genome.wustl.edu 37 6 132909837 132909837 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003967.2 -1 validated p.R330H 0.000 140 0% 132 24.2% 0 - benign(0.389) tolerated(0.08) neutral(0.424) superfamily_SSF81321 TAAR2 9287 genome.wustl.edu 37 6 132938828 132938828 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001033080.1 -1 validated p.A173S 0.061 336 0% 277 25.3% 0 - benign(0) deleterious(0.04) neutral(0.349) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like VNN1 8876 genome.wustl.edu 37 6 133004445 133004445 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004666.2 -1 reviewed p.R459H 0.990 224 0% 154 20.8% 0 - possibly_damaging(0.599) tolerated(0.08) deleterious(0.507) NULL SLC18B1 116843 genome.wustl.edu 37 6 133095408 133095408 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052831.2 -1 validated p.A314 0.000 444 0% 282 29.8% 42 40.4% - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter SLC18B1 116843 genome.wustl.edu 37 6 133108600 133108600 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052831.2 -1 validated p.A158 0.994 437 0% 228 25.4% 32 37.5% - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter SNORA33 594839 genome.wustl.edu 37 6 133138447 133138447 + RNA SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NR_002436.1 +1 provisional NULL 0.501 247 0% 144 22.9% 8 12.5% - - - - SGK1 6446 genome.wustl.edu 37 6 134492179 134492179 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001143676.1 -1 reviewed p.L435 0.576 155 0.6% 78 29.5% 70 28.5% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase AHI1 54806 genome.wustl.edu 37 6 135777059 135777059 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001134830.1 -1 reviewed p.R386L 0.878 34 0% 27 29.6% 13 30.7% probably_damaging(0.967) deleterious(0.01) deleterious(0.815) superfamily_WD40 repeat-like AHI1 54806 genome.wustl.edu 37 6 135787210 135787210 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001134830.1 -1 reviewed p.G164D 0.015 394 0% 257 30% 2 50% benign(0.018) tolerated(0.93) neutral(0.001) superfamily_WD40 repeat-like MAP7 9053 genome.wustl.edu 37 6 136667062 136667062 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003980.3 -1 reviewed p.A724V 1.000 162 0% 79 13.9% 55 21.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MAP7 9053 genome.wustl.edu 37 6 136710517 136710517 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003980.3 -1 reviewed p.R128Q 1.000 359 0% 236 23.3% 57 47.3% unknown(0) tolerated(0.46) - NULL MAP3K5 4217 genome.wustl.edu 37 6 136944051 136944051 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005923.3 -1 reviewed p.Y695 0.765 523 0% 290 34.1% 8 37.5% - - - HMMSmart_S_TKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase PEX7 5191 genome.wustl.edu 37 6 137147487 137147487 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000288.3 +1 reviewed p.V73 1.000 157 0% 115 20.9% 25 36% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 IL20RA 53832 genome.wustl.edu 37 6 137322749 137322749 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014432.2 -1 reviewed p.T536 0.973 463 0% 278 32.4% 42 64.2% - - - NULL TNFAIP3 7128 genome.wustl.edu 37 6 138196093 138196093 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006290.2 +1 reviewed p.R136H 1.000 179 0% 93 31.2% 16 6.2% probably_damaging(0.982) tolerated(0.21) deleterious(0.470) HMMPfam_OTU TNFAIP3 7128 genome.wustl.edu 37 6 138197171 138197171 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006290.2 +1 reviewed p.A225T 0.937 205 0% 111 34.2% 10 30% benign(0.048) deleterious(0) neutral(0.448) HMMPfam_OTU PERP 64065 genome.wustl.edu 37 6 138417551 138417551 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022121.4 -1 validated p.L99I 1.000 169 0% 93 26.9% 314 36.9% possibly_damaging(0.791) tolerated(0.22) neutral(0.338) NULL KIAA1244 57221 genome.wustl.edu 37 6 138611026 138611026 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020340.4 +1 validated p.V990I 1.000 65 0% 24 20.8% 4 50% probably_damaging(0.987) tolerated(0.08) deleterious(0.736) NULL KIAA1244 57221 genome.wustl.edu 37 6 138656065 138656065 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020340.4 +1 validated p.E2028* 1.000 46 0% 21 19% 3 66.6% - - - NULL HECA 51696 genome.wustl.edu 37 6 139488083 139488083 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016217.2 +1 reviewed p.A312T 0.759 107 0% 75 37.3% 6 16.6% benign(0.323) deleterious(0.02) deleterious(0.484) NULL TXLNB 167838 genome.wustl.edu 37 6 139609998 139609998 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153235.3 -1 validated p.R13 0.000 205 0% 141 24.8% 0 - - - - NULL GPR126 57211 genome.wustl.edu 37 6 142688973 142688973 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198569.2 +1 reviewed p.A124V 0.972 203 0.5% 110 22.7% 3 33.3% benign(0.001) tolerated(0.16) neutral(0.059) HMMPfam_CUB,HMMSmart_CUB,superfamily_CUB HIVEP2 3097 genome.wustl.edu 37 6 143091558 143091558 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006734.3 -1 provisional p.R1440* 1.000 86 1.2% 37 13.5% 6 16.6% - - - NULL HIVEP2 3097 genome.wustl.edu 37 6 143092153 143092153 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006734.3 -1 provisional p.S1241 0.999 155 0% 94 35.1% 3 33.3% - - - NULL HIVEP2 3097 genome.wustl.edu 37 6 143093055 143093055 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006734.3 -1 provisional p.R941C 1.000 85 0% 51 33.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PLAGL1 5325 genome.wustl.edu 37 6 144262861 144262861 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080951.1 -1 reviewed p.E364 0.948 213 0% 151 20.5% 24 0% - - - NULL PLAGL1 5325 genome.wustl.edu 37 6 144263557 144263557 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080951.1 -1 reviewed p.T132 0.000 203 0% 131 28.2% 13 76.9% - - - PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SF3B5 83443 genome.wustl.edu 37 6 144416513 144416513 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031287.2 -1 validated p.C41Y 1.000 94 0% 50 18% 256 43.3% benign(0.045) deleterious(0) neutral(0.447) HMMPfam_SF3b10 UTRN 7402 genome.wustl.edu 37 6 144814581 144814581 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007124.2 +1 reviewed p.L1528 1.000 160 0% 89 29.2% 3 0% - - - HMMSmart_SPEC,superfamily_Spectrin UTRN 7402 genome.wustl.edu 37 6 144852304 144852304 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007124.2 +1 reviewed p.S2008I 0.992 108 0% 73 20.5% 2 50% benign(0) tolerated(0.13) neutral(0.253) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin FBXO30 84085 genome.wustl.edu 37 6 146127328 146127328 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032145.4 -1 reviewed p.A72T 0.998 560 0% 358 27.7% 7 57.1% benign(0.001) tolerated(0.5) neutral(0.010) superfamily_Traf_like SHPRH 257218 genome.wustl.edu 37 6 146214414 146214414 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001042683.2 -1 validated p.P1608L 1.000 175 0% 154 27.9% 17 58.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases SHPRH 257218 genome.wustl.edu 37 6 146262773 146262773 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001042683.2 -1 validated p.C826R 1.000 169 0% 129 22.5% 7 0% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases STXBP5 134957 genome.wustl.edu 37 6 147631292 147631292 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001127715.1 +1 reviewed p.M330I 1.000 251 0.4% 213 23% 6 50% benign(0.218) tolerated(0.12) neutral(0.282) superfamily_WD40 repeat-like,HMMPfam_LLGL STXBP5 134957 genome.wustl.edu 37 6 147684754 147684754 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001127715.1 +1 reviewed p.S943 0.009 263 0.8% 198 23.7% 25 68% - - - NULL STXBP5 134957 genome.wustl.edu 37 6 147685189 147685189 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001127715.1 +1 reviewed p.M990V 0.998 525 0% 374 24.9% 31 41.9% possibly_damaging(0.76) tolerated(0.37) neutral(0.300) NULL SASH1 23328 genome.wustl.edu 37 6 148865653 148865653 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015278.3 +1 validated p.A1016V 0.602 85 0% 32 37.5% 13 30.7% benign(0.209) deleterious(0.02) neutral(0.404) NULL UST 10090 genome.wustl.edu 37 6 149342551 149342551 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005715.2 +1 validated p.L291 1.000 209 0% 132 27.3% 4 50% - - - HMMPfam_HS2ST ZC3H12D 340152 genome.wustl.edu 37 6 149777980 149777980 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207360.2 -1 validated p.R168C 1.000 20 0% 15 33.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PPIL4 85313 genome.wustl.edu 37 6 149846299 149846299 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_139126.2 -1 reviewed p.A284T 1.000 220 0% 136 21.3% 35 37.1% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD PPIL4 85313 genome.wustl.edu 37 6 149862566 149862566 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_139126.2 -1 reviewed p.R47K 1.000 240 0% 155 9.7% 17 11.7% benign(0) tolerated(0.74) neutral(0.002) HMMPfam_Pro_isomerase,superfamily_Cyclophilin-like KATNA1 11104 genome.wustl.edu 37 6 149918308 149918308 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007044.2 -1 reviewed p.L390I 1.000 198 0% 99 28.3% 19 31.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases PCMT1 5110 genome.wustl.edu 37 6 150092373 150092373 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005389.2 +1 validated p.N44I 1.000 153 0% 83 33.7% 166 44.5% benign(0.395) tolerated(0.1) neutral(0.413) HMMPfam_PCMT,superfamily_S-adenosyl-L-methionine-dependent methyltransferases ULBP2 80328 genome.wustl.edu 37 6 150267743 150267743 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025217.2 +1 provisional p.E195D 0.000 407 0.2% 209 29.2% 7 57.1% benign(0.01) tolerated(0.34) neutral(0.024) HMMPfam_MHC_I,superfamily_MHC antigen-recognition domain ULBP1 80329 genome.wustl.edu 37 6 150289945 150289945 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025218.2 +1 provisional p.D96 0.000 179 0% 88 23.9% 1 0% - - - superfamily_MHC antigen-recognition domain IYD 389434 genome.wustl.edu 37 6 150715384 150715384 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_203395.2 +1 reviewed p.A227D 1.000 177 0% 94 29.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Nitroreductase,superfamily_FMN-dependent nitroreductase-like PLEKHG1 57480 genome.wustl.edu 37 6 151054845 151054845 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001029884.1 +1 provisional p.V10I 0.038 255 0% 123 33.3% 3 33.3% benign(0.006) tolerated(0.74) neutral(0.002) NULL MTHFD1L 25902 genome.wustl.edu 37 6 151204010 151204010 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015440.3 +1 validated p.K177T 1.000 100 0% 75 26.7% 39 30.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_THF_DHG_CYH,superfamily_Aminoacid dehydrogenase-like N-terminal domain C6orf97 80129 genome.wustl.edu 37 6 151907141 151907141 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025059.3 +1 validated p.L404I 0.934 91 0% 56 28.6% 1 0% probably_damaging(0.991) tolerated(0.3) deleterious(0.473) NULL SYNE1 23345 genome.wustl.edu 37 6 152476150 152476150 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182961.2 -1 reviewed p.Q8002H 1.000 407 0.2% 267 41.6% 3 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152477078 152477078 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182961.2 -1 reviewed p.N7982S 0.997 237 0% 149 28.2% 4 0% benign(0.353) tolerated(0.11) neutral(0.383) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152546921 152546921 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182961.2 -1 reviewed p.V7096I 0.992 514 0% 271 14.8% 2 0% benign(0.001) tolerated(0.13) neutral(0.253) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152546990 152546990 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182961.2 -1 reviewed p.A7073T 1.000 314 0% 180 25.6% 0 - benign(0) tolerated(0.34) neutral(0.023) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152602995 152602995 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182961.2 -1 reviewed p.L6110M 0.038 133 0% 75 30.7% 1 0% possibly_damaging(0.807) tolerated(0.12) deleterious(0.565) HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152603057 152603057 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182961.2 -1 reviewed p.R6089H 1.000 167 0.6% 80 26.3% 0 - benign(0.013) tolerated(0.31) neutral(0.028) HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152647643 152647643 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182961.2 -1 reviewed p.S5027 0.985 153 0.7% 75 30.7% 0 - - - - HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152651196 152651196 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182961.2 -1 reviewed p.T4875M 0.000 206 0.5% 82 28% 0 - benign(0.162) - - superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152652610 152652610 + Missense_Mutation SNP G G A rs112087400 TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182961.2 -1 reviewed p.L4404F 0.927 133 0.8% 97 14.4% 0 - possibly_damaging(0.951) - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152694324 152694324 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182961.2 -1 reviewed p.H3119Y 0.997 420 0% 248 31.5% 0 - possibly_damaging(0.893) tolerated(0.08) deleterious(0.652) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SYNE1 23345 genome.wustl.edu 37 6 152806030 152806030 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182961.2 -1 reviewed p.D375 0.404 372 0% 188 27.7% 0 - - - - NULL SYNE1 23345 genome.wustl.edu 37 6 152832714 152832714 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033071.2 -1 reviewed p.G108* 1.000 134 0% 98 31.6% 0 - - - - HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain MYCT1 80177 genome.wustl.edu 37 6 153019055 153019055 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025107.2 +1 validated p.Y6 0.991 108 0.9% 71 9.9% 0 - - - - NULL SCAF8 22828 genome.wustl.edu 37 6 155143449 155143449 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014892.3 +1 validated p.T611M 0.469 696 0% 531 31.8% 35 48.5% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL SCAF8 22828 genome.wustl.edu 37 6 155153576 155153576 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014892.3 +1 validated p.P955S 1.000 713 0% 402 25.4% 36 36.1% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL TIAM2 26230 genome.wustl.edu 37 6 155572088 155572088 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012454.3 +1 reviewed p.T1331 0.809 244 0% 111 21.6% 1 0% - - - HMMSmart_SM00233,superfamily_PH domain-like CLDN20 49861 genome.wustl.edu 37 6 155597436 155597436 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001346.3 +1 reviewed p.D195N 0.000 341 0% 204 13.7% 0 - benign(0) tolerated(0.55) neutral(0.007) NULL TMEM242 729515 genome.wustl.edu 37 6 157743781 157743781 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018452.4 -1 validated p.T49P 0.997 253 0% 146 19.2% 9 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF1358 SYNJ2 8871 genome.wustl.edu 37 6 158464403 158464403 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003898.3 +1 reviewed p.P256L 0.046 78 0% 58 37.9% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Syja_N SYNJ2 8871 genome.wustl.edu 37 6 158509776 158509776 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003898.3 +1 reviewed p.R1143I 0.748 175 0% 94 41.5% 5 60% possibly_damaging(0.564) deleterious(0.04) deleterious(0.541) NULL SERAC1 84947 genome.wustl.edu 37 6 158564190 158564190 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032861.3 -1 validated p.R212S 0.440 403 0% 242 24.4% 10 30% possibly_damaging(0.926) deleterious(0.04) deleterious(0.724) superfamily_ARM repeat SERAC1 84947 genome.wustl.edu 37 6 158571518 158571518 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032861.3 -1 validated p.H78Y 0.000 225 0% 116 32.8% 8 62.5% benign(0.059) deleterious(0.05) neutral(0.349) NULL TULP4 56995 genome.wustl.edu 37 6 158924396 158924396 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020245.3 +1 validated p.S1234I 1.000 104 0% 66 40.9% 23 60.8% possibly_damaging(0.455) deleterious(0) deleterious(0.594) NULL SYTL3 94120 genome.wustl.edu 37 6 159185610 159185610 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001009991.2 +1 validated p.T535P 1.000 131 0% 82 20.7% 13 38.4% probably_damaging(0.991) deleterious(0.02) deleterious(0.827) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) RSPH3 83861 genome.wustl.edu 37 6 159401862 159401862 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031924.4 -1 validated p.P410L 0.990 181 0% 134 26.9% 6 33.3% possibly_damaging(0.756) deleterious(0.02) deleterious(0.662) HMMPfam_Radial_spoke_3 RSPH3 83861 genome.wustl.edu 37 6 159420832 159420832 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031924.4 -1 validated p.T59 0.008 42 0% 20 25% 7 14.2% - - - NULL FNDC1 84624 genome.wustl.edu 37 6 159654360 159654360 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032532.2 +1 validated p.Q939R 0.026 47 0% 25 24% 2 0% unknown(0) tolerated(0.24) - NULL FNDC1 84624 genome.wustl.edu 37 6 159654380 159654380 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032532.2 +1 validated p.A946T 0.001 49 0% 22 40.9% 2 0% unknown(0) deleterious(0.03) - NULL WTAP 9589 genome.wustl.edu 37 6 160176584 160176584 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004906.3 +1 reviewed p.S378P 1.000 249 0% 151 33.1% 40 47.5% benign(0.002) deleterious(0) neutral(0.445) NULL ACAT2 39 genome.wustl.edu 37 6 160198360 160198360 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005891.2 +1 reviewed p.V262I 1.000 236 0% 133 30.8% 73 34.2% benign(0.051) tolerated(0.1) neutral(0.289) HMMPfam_Thiolase_N,superfamily_Thiolase-like ACAT2 39 genome.wustl.edu 37 6 160198390 160198390 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005891.2 +1 reviewed p.R272C 0.971 220 0% 111 29.7% 68 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Thiolase-like SNORA29 677812 genome.wustl.edu 37 6 160206718 160206718 + RNA SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NR_002965.1 -1 provisional NULL 1.000 424 0% 269 27.1% 1 0% - - - - PNLDC1 154197 genome.wustl.edu 37 6 160230148 160230148 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173516.1 +1 provisional p.R236S 0.836 244 0% 120 30% 0 - possibly_damaging(0.553) deleterious(0.03) deleterious(0.553) HMMPfam_CAF1,superfamily_Ribonuclease H-like IGF2R 3482 genome.wustl.edu 37 6 160455487 160455487 + Silent SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000876.2 +1 reviewed p.G416 0.999 206 0% 118 12.7% 3 0% - - - HMMPfam_CIMR,superfamily_Mannose 6-phosphate receptor domain IGF2R 3482 genome.wustl.edu 37 6 160468922 160468922 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000876.2 +1 reviewed p.E776 1.000 114 0% 51 37.3% 8 12.5% - - - HMMPfam_CIMR,superfamily_Mannose 6-phosphate receptor domain IGF2R 3482 genome.wustl.edu 37 6 160494847 160494847 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000876.2 +1 reviewed p.R1669H 0.980 147 0% 77 16.9% 28 67.8% possibly_damaging(0.948) tolerated(0.06) deleterious(0.714) HMMPfam_CIMR,superfamily_Mannose 6-phosphate receptor domain IGF2R 3482 genome.wustl.edu 37 6 160525893 160525893 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000876.2 +1 reviewed p.E2418G 0.691 118 0% 76 32.9% 22 4.5% benign(0.006) tolerated(0.23) neutral(0.042) NULL SLC22A1 6580 genome.wustl.edu 37 6 160555075 160555075 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003057.2 +1 reviewed p.G253R 0.066 120 0% 62 25.8% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_MFS_1,superfamily_MFS general substrate transporter LPA 4018 genome.wustl.edu 37 6 160966486 160966486 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005577.2 -1 reviewed p.D1795G 0.995 296 0% 136 33.1% 0 - benign(0.253) tolerated(0.4) neutral(0.042) HMMPfam_Kringle,HMMSmart_SM00130,superfamily_Kringle-like LPA 4018 genome.wustl.edu 37 6 160978438 160978438 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005577.2 -1 reviewed p.E1599D 0.000 451 0% 226 28.8% 0 - probably_damaging(0.971) tolerated(0.26) neutral(0.447) NULL PLG 5340 genome.wustl.edu 37 6 161139851 161139851 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000301.3 +1 reviewed p.T359 0.014 212 0.9% 146 11.6% 0 - - - - superfamily_Kringle-like PLG 5340 genome.wustl.edu 37 6 161143599 161143599 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000301.3 +1 reviewed p.A419V 1.000 410 0.5% 255 21.6% 1 0% probably_damaging(0.994) tolerated(0.05) deleterious(0.797) HMMPfam_Kringle,HMMSmart_KR,superfamily_Kringle-like MAP3K4 4216 genome.wustl.edu 37 6 161533756 161533756 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005922.2 +1 reviewed p.A1526T 1.000 185 0% 100 33% 42 45.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PARK2 5071 genome.wustl.edu 37 6 162864448 162864448 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004562.2 -1 reviewed p.S22I 1.000 318 0% 227 17.2% 1 0% probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_ubiquitin,HMMSmart_SM00213,superfamily_Ubiquitin-like LOC100129958 100129958 genome.wustl.edu 37 6 162990295 162990295 + Silent SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_001719102.1 +1 model p.A161 1.000 127 0% 51 37.3% 0 - - - - HMMPfam_Filament PACRG 135138 genome.wustl.edu 37 6 163735954 163735954 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152410.2 +1 reviewed p.G276* 1.000 79 0% 44 31.8% 0 - - - - HMMPfam_ParcG C6orf118 168090 genome.wustl.edu 37 6 165715163 165715163 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144980.3 -1 validated p.R216S 0.000 137 0.7% 59 18.6% 0 - possibly_damaging(0.485) tolerated(0.18) neutral(0.217) NULL C6orf118 168090 genome.wustl.edu 37 6 165723071 165723071 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144980.3 -1 validated p.A2V 0.741 90 0% 56 14.3% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL RPS6KA2 6196 genome.wustl.edu 37 6 166902391 166902391 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001006932.1 -1 reviewed p.P287 1.000 36 0% 19 36.8% 13 61.5% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase GPR31 2853 genome.wustl.edu 37 6 167570713 167570713 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005299.2 -1 validated p.A203T 0.139 227 0% 103 25.2% 0 - benign(0.001) tolerated(0.69) neutral(0.002) HMMPfam_7tm_1,superfamily_SSF81321 MLLT4 4301 genome.wustl.edu 37 6 168312028 168312028 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000423229 +1 known p.V331I 0.997 331 0% 204 20.1% 28 50% - - - NULL MLLT4 4301 genome.wustl.edu 37 6 168363158 168363158 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001040001.1 +1 validated p.R1630C 1.000 110 0% 71 33.8% 80 47.5% possibly_damaging(0.886) tolerated(0.08) deleterious(0.646) NULL THBS2 7058 genome.wustl.edu 37 6 169648845 169648845 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003247.2 -1 reviewed p.Q92H 1.000 67 0% 53 17% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_TSPN,superfamily_ConA_like_lec_gl C6orf70 55780 genome.wustl.edu 37 6 170154060 170154060 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018341.1 +1 validated p.S36I 0.001 133 0% 88 22.7% 12 33.3% probably_damaging(0.991) tolerated(0.08) deleterious(0.744) NULL DLL1 28514 genome.wustl.edu 37 6 170592396 170592396 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005618.3 -1 reviewed p.A657 0.000 36 2.8% 25 20% 0 - - - - NULL FAM120B 84498 genome.wustl.edu 37 6 170627637 170627637 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032448.1 +1 provisional p.Q387* 0.038 691 0.1% 447 26.2% 19 10.5% - - - NULL TBP 6908 genome.wustl.edu 37 6 170876007 170876007 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003194.4 +1 reviewed p.R196Q 1.000 77 0% 38 23.7% 21 42.8% unknown(0) tolerated(0.05) - HMMPfam_TBP,PatternScan_TFIID,superfamily_TFIID_C/glycos_N HEATR2 54919 genome.wustl.edu 37 7 769436 769436 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000440747 +1 known p.R46* 0.935 32 3.1% 18 50% 27 62.9% - - - HMMPfam_HEAT,superfamily_ARM repeat SUN1 23353 genome.wustl.edu 37 7 889236 889236 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000433212 +1 known p.A30T 0.000 216 0.5% 105 28.6% 26 46.1% - - - NULL SUN1 23353 genome.wustl.edu 37 7 892452 892452 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130965.2 +1 reviewed p.L306I 0.000 160 0% 90 21.1% 28 46.4% possibly_damaging(0.918) tolerated(0.08) deleterious(0.668) NULL GPR146 115330 genome.wustl.edu 37 7 1098145 1098145 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138445.2 +1 provisional p.L332M 0.977 18 0% 14 42.9% 6 0% benign(0.001) tolerated(1) - NULL EIF3B 8662 genome.wustl.edu 37 7 2402380 2402380 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001037283.1 +1 validated p.L265I 1.000 71 0% 30 26.7% 95 6.3% possibly_damaging(0.806) deleterious(0.04) deleterious(0.652) superfamily_RNA-binding domain RBD EIF3B 8662 genome.wustl.edu 37 7 2406669 2406669 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001037283.1 +1 validated p.I464 1.000 243 0% 148 24.3% 67 4.4% - - - superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain IQCE 23288 genome.wustl.edu 37 7 2623312 2623312 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152558.3 +1 validated p.M248T 1.000 30 0% 17 41.2% 19 15.7% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL GNA12 2768 genome.wustl.edu 37 7 2802239 2802239 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000407653 -1 known p.I95S 0.001 63 0% 36 16.7% 0 - benign(0.001) deleterious(0.01) neutral(0.406) HMMSmart_SM00275 SDK1 221935 genome.wustl.edu 37 7 4116739 4116739 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152744.3 +1 validated p.T1040 1.000 63 0% 23 30.4% 1 100% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III RBAK 57786 genome.wustl.edu 37 7 5103810 5103810 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021163.3 +1 reviewed p.D241E 0.010 223 0% 173 32.9% 6 83.3% benign(0.069) tolerated(0.14) neutral(0.254) NULL SLC29A4 222962 genome.wustl.edu 37 7 5330411 5330411 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001040661.1 +1 reviewed p.A73V 1.000 37 0% 23 26.1% 2 50% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) superfamily_MFS general substrate transporter RNF216 54476 genome.wustl.edu 37 7 5752410 5752410 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207111.2 -1 reviewed p.Y640H 0.009 66 0% 34 26.5% 18 50% possibly_damaging(0.649) tolerated(0.5) neutral(0.238) NULL USP42 84132 genome.wustl.edu 37 7 6187480 6187480 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032172.2 +1 validated p.A448V 0.001 226 0.4% 110 30% 25 36% benign(0.01) tolerated(0.06) neutral(0.323) NULL COL28A1 340267 genome.wustl.edu 37 7 7477061 7477061 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001037763.2 -1 validated p.M585I 1.000 259 0% 144 34% 0 - benign(0.278) tolerated(0.35) neutral(0.051) NULL GLCCI1 113263 genome.wustl.edu 37 7 8062188 8062188 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138426.2 +1 validated p.Q229* 1.000 131 0% 101 26.7% 5 20% - - - NULL NXPH1 30010 genome.wustl.edu 37 7 8475346 8475346 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152745.2 +1 reviewed p.M1I 1.000 158 0% 53 22.6% 0 - benign(0.032) deleterious(0) neutral(0.446) NULL LOC340268 340268 genome.wustl.edu 37 7 9766422 9766422 + RNA SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XR_041608.1 +1 model NULL 1.000 113 0% 48 25% 0 - - - - - ENSG00000248675 0 genome.wustl.edu 37 7 10491154 10491154 + RNA SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000510654 -1 known NULL 0.736 145 0% 96 19.8% 101 0% - - - - PHF14 9678 genome.wustl.edu 37 7 11022400 11022400 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000303905 +1 known p.A172T 0.000 187 0% 118 30.5% 40 40% unknown(0) tolerated(0.76) - NULL THSD7A 221981 genome.wustl.edu 37 7 11514154 11514154 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015204.2 -1 validated p.R687 0.999 89 0% 91 33% 4 75% - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat SCIN 85477 genome.wustl.edu 37 7 12679997 12679997 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001112706.2 +1 validated p.P479H 1.000 420 0% 295 32.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins ETV1 2115 genome.wustl.edu 37 7 14028362 14028362 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000405358 -1 known p.Q10H 1.000 408 0% 274 23.7% 0 - unknown(0) deleterious(0) - NULL ETV1 2115 genome.wustl.edu 37 7 14028649 14028649 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004956.4 -1 validated p.P10L 1.000 43 0% 13 30.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ETS_PEA3_N DGKB 1607 genome.wustl.edu 37 7 14217711 14217711 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004080.2 -1 reviewed p.T731A 1.000 344 0.3% 203 23.6% 0 - possibly_damaging(0.839) tolerated(0.27) neutral(0.354) HMMPfam_DAGK_acc,HMMSmart_SM00045 AGMO 392636 genome.wustl.edu 37 7 15240983 15240983 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004320.1 -1 provisional p.I422N 0.965 238 0% 191 10.5% 0 - probably_damaging(0.964) deleterious(0.02) deleterious(0.789) NULL AGMO 392636 genome.wustl.edu 37 7 15470702 15470702 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004320.1 -1 provisional p.T147 0.980 297 0% 217 30.4% 0 - - - - HMMPfam_FA_hydroxylase AGMO 392636 genome.wustl.edu 37 7 15601421 15601421 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004320.1 -1 provisional p.R17H 0.840 289 0% 218 28.9% 0 - probably_damaging(0.972) tolerated(0.18) deleterious(0.470) NULL MEOX2 4223 genome.wustl.edu 37 7 15725510 15725510 + Splice_Site SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005924.4 -1 reviewed e1+1 1.000 104 0% 62 16.1% 0 - - - - - BZW2 28969 genome.wustl.edu 37 7 16737707 16737707 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014038.2 +1 validated p.Q335R 1.000 126 0% 94 29.8% 142 40.8% benign(0.123) tolerated(0.28) neutral(0.042) HMMSmart_SM00515,superfamily_ARM repeat AHR 196 genome.wustl.edu 37 7 17349713 17349713 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001621.4 +1 validated p.S73 0.998 194 0.5% 115 29.6% 8 37.5% - - - HMMPfam_HLH,HMMSmart_SM00353 HDAC9 9734 genome.wustl.edu 37 7 18684314 18684314 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178425.2 +1 reviewed p.R311 0.997 183 0% 151 28.5% 23 43.4% - - - NULL HDAC9 9734 genome.wustl.edu 37 7 18684359 18684359 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178425.2 +1 reviewed p.T326 1.000 168 0% 139 29.5% 22 27.2% - - - NULL HDAC9 9734 genome.wustl.edu 37 7 19015522 19015522 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178425.2 +1 reviewed p.A1039D 1.000 129 0% 72 13.9% 2 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL TWISTNB 221830 genome.wustl.edu 37 7 19738335 19738335 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001002926.1 -1 validated p.R207 0.021 400 0% 240 27.5% 12 50% - - - NULL TMEM196 256130 genome.wustl.edu 37 7 19765250 19765250 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152774.3 -1 validated p.G116R 0.999 138 0% 93 31.2% 0 - probably_damaging(0.991) tolerated(0.17) deleterious(0.503) NULL ITGB8 3696 genome.wustl.edu 37 7 20444432 20444432 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002214.2 +1 reviewed p.F623L 1.000 211 0% 141 26.2% 3 66.6% benign(0) tolerated(0.78) neutral(0.001) HMMPfam_EGF_2,superfamily_EGF/Laminin ABCB5 340273 genome.wustl.edu 37 7 20685597 20685597 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000404938 +1 known p.L273I 0.966 321 0.3% 202 29.7% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain DNAH11 8701 genome.wustl.edu 37 7 21906270 21906270 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003777.3 +1 reviewed p.T3900 0.002 241 0% 156 33.3% 0 - - - - HMMPfam_Dynein_heavy DNAH11 8701 genome.wustl.edu 37 7 21908481 21908481 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003777.3 +1 reviewed e73-1 1.000 205 0% 143 25.2% 0 - - - - - CDCA7L 55536 genome.wustl.edu 37 7 21942672 21942672 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018719.4 -1 validated p.G420S 1.000 118 0.8% 45 33.3% 32 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-4CXXC_R1 CDCA7L 55536 genome.wustl.edu 37 7 21947809 21947809 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018719.4 -1 validated p.S207I 0.001 106 0% 65 23.1% 35 34.2% benign(0.006) tolerated(0.06) neutral(0.323) NULL RAPGEF5 9771 genome.wustl.edu 37 7 22194137 22194137 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012294.3 -1 validated p.V421 0.047 129 0% 77 33.8% 3 66.6% - - - superfamily_Ras GEF RAPGEF5 9771 genome.wustl.edu 37 7 22206738 22206738 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012294.3 -1 validated p.T258 1.000 75 0% 72 30.6% 4 25% - - - HMMPfam_RasGEF_N,HMMSmart_SM00229,superfamily_Ras GEF KLHL7 55975 genome.wustl.edu 37 7 23180389 23180389 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001031710.2 +1 reviewed p.G148 0.998 204 0% 124 29.8% 26 46.1% - - - HMMPfam_BACK GPNMB 10457 genome.wustl.edu 37 7 23299622 23299622 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005340.1 +1 reviewed p.R189* 0.968 373 0% 207 28% 42 0% - - - NULL DFNA5 1687 genome.wustl.edu 37 7 24738874 24738874 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001127453.1 -1 reviewed p.R421H 0.000 150 0% 67 25.4% 6 0% benign(0.007) tolerated(0.49) neutral(0.011) HMMPfam_Gasdermin OSBPL3 26031 genome.wustl.edu 37 7 24846505 24846505 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015550.2 -1 reviewed p.G778 0.642 305 0% 217 29% 18 44.4% - - - HMMPfam_Oxysterol_BP OSBPL3 26031 genome.wustl.edu 37 7 24849459 24849459 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015550.2 -1 reviewed p.G762S 0.015 144 0% 90 35.6% 13 23% benign(0) tolerated(0.73) neutral(0.002) HMMPfam_Oxysterol_BP C7orf31 136895 genome.wustl.edu 37 7 25175672 25175672 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138811.3 -1 validated p.D564E 0.001 275 0% 183 10.9% 0 - benign(0) tolerated(0.82) neutral(0.001) NULL NPVF 64111 genome.wustl.edu 37 7 25266366 25266366 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022150.3 -1 validated p.V140I 0.000 723 0% 397 29.7% 0 - benign(0) tolerated(1) - NULL NFE2L3 9603 genome.wustl.edu 37 7 26224239 26224239 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004289.6 +1 reviewed p.Q307H 0.986 505 0.2% 265 30.6% 51 35.2% possibly_damaging(0.805) deleterious(0.05) deleterious(0.648) NULL NFE2L3 9603 genome.wustl.edu 37 7 26224488 26224488 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004289.6 +1 reviewed p.D390 1.000 497 0.2% 278 11.2% 53 11.3% - - - NULL HNRNPA2B1 3181 genome.wustl.edu 37 7 26237309 26237309 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031243.2 -1 reviewed p.S29N 1.000 110 0% 62 11.3% 926 13.4% probably_damaging(0.98) tolerated(0.19) deleterious(0.473) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD HOXA1 3198 genome.wustl.edu 37 7 27134213 27134213 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005522.4 -1 reviewed p.K285M 1.000 89 0% 57 33.3% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 HOXA1 3198 genome.wustl.edu 37 7 27135311 27135311 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005522.4 -1 reviewed p.H74R 0.943 61 1.6% 32 53.1% 0 - benign(0.17) tolerated(0.39) neutral(0.032) NULL HOXA3 3200 genome.wustl.edu 37 7 27147830 27147830 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030661.4 -1 reviewed p.A346T 1.000 15 0.000 9 0.667 0 - benign(0.004) tolerated(1) - NULL HOXA10 3206 genome.wustl.edu 37 7 27211672 27211672 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018951.3 -1 reviewed p.Y360C 1.000 147 0% 87 36.8% 18 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like JAZF1 221895 genome.wustl.edu 37 7 27934919 27934919 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175061.3 -1 reviewed p.R102H 1.000 89 1.1% 60 36.7% 10 30% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL JAZF1 221895 genome.wustl.edu 37 7 28031528 28031528 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175061.3 -1 reviewed p.R63I 1.000 217 0% 138 14.5% 13 23% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL LOC402644 402644 genome.wustl.edu 37 7 28319206 28319206 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001126493.1 -1 predicted p.A38V 1.000 418 0% 238 30.7% 0 - - - - HMMPfam_Pro_isomerase,superfamily_CSA_PPIase C7orf41 222166 genome.wustl.edu 37 7 30197086 30197086 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152793.2 +1 validated p.A106 0.001 182 0% 96 27.1% 30 33.3% - - - NULL NOD1 10392 genome.wustl.edu 37 7 30491063 30491063 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006092.2 -1 reviewed p.R657H 1.000 31 0% 15 33.3% 9 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CRHR2 1395 genome.wustl.edu 37 7 30706905 30706905 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001883.3 -1 validated p.E85V 1.000 204 0% 100 15% 0 - benign(0.035) tolerated(0.25) neutral(0.039) HMMPfam_HRM,HMMSmart_SM00008,superfamily_Hormone receptor domain (HRM Pfam 02793),superfamily_Family A G protein-coupled receptor-like INMT 11185 genome.wustl.edu 37 7 30791815 30791815 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006774.4 +1 reviewed p.P17S 0.330 253 0% 128 28.1% 7 0% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_NNMT_PNMT_TEMT,superfamily_SSF53335 INMT 11185 genome.wustl.edu 37 7 30793366 30793366 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000451002 +1 known p.A58T 0.002 533 0% 276 34.1% 3 0% - - - HMMPfam_NNMT_PNMT_TEMT,superfamily_S-adenosyl-L-methionine-dependent methyltransferases FAM188B 84182 genome.wustl.edu 37 7 30825570 30825570 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032222.2 +1 validated p.R209* 0.999 155 0% 73 37% 6 16.6% - - - NULL NEUROD6 63974 genome.wustl.edu 37 7 31377958 31377958 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022728.2 -1 provisional p.P309S 1.000 278 0.4% 134 23.9% 0 - benign(0) tolerated(0.51) neutral(0.009) NULL NEUROD6 63974 genome.wustl.edu 37 7 31378298 31378298 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022728.2 -1 provisional p.E195D 0.987 306 0% 161 13% 0 - benign(0) tolerated(0.93) - NULL CCDC129 223075 genome.wustl.edu 37 7 31683331 31683331 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_194300.2 +1 validated p.V783I 0.004 150 0.7% 85 25.9% 3 0% possibly_damaging(0.945) tolerated(0.74) neutral(0.391) NULL FKBP9 11328 genome.wustl.edu 37 7 33015974 33015974 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007270.3 +1 validated p.R189H 1.000 474 0.2% 217 32.3% 46 47.8% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_FKBP_C,superfamily_SSF54534 FKBP9 11328 genome.wustl.edu 37 7 33028165 33028165 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007270.3 +1 validated p.V314M 1.000 254 0% 127 20.5% 44 38.6% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_FKBP_C,superfamily_SSF54534 FKBP9 11328 genome.wustl.edu 37 7 33039774 33039774 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007270.3 +1 validated p.V425A 0.999 342 0.3% 160 14.4% 50 12% probably_damaging(0.99) deleterious(0.03) deleterious(0.806) HMMPfam_FKBP_C,superfamily_SSF54534 NT5C3 51251 genome.wustl.edu 37 7 33057034 33057034 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000409787 -1 known p.R203H 0.007 224 0% 126 19% 0 - unknown(0) tolerated(0.25) - NULL RP9 6100 genome.wustl.edu 37 7 33136960 33136960 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_203288.1 -1 reviewed p.R110C 1.000 148 0% 88 21.6% 28 21.4% probably_damaging(0.998) tolerated(0.13) deleterious(0.727) HMMSmart_ZnF_C2HC DPY19L1 23333 genome.wustl.edu 37 7 34979907 34979907 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015283.1 -1 validated p.P501 1.000 116 0% 60 28.3% 35 80% - - - HMMPfam_DUF2211 DPY19L1 23333 genome.wustl.edu 37 7 34994940 34994940 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015283.1 -1 validated p.V334I 0.986 166 0% 116 17.2% 6 50% benign(0.094) tolerated(0.38) neutral(0.025) HMMPfam_DUF2211 DPY19L2 283417 genome.wustl.edu 37 7 35142527 35142527 + Splice_Site SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000458672 -1 known NULL 0.989 339 0% 233 11.2% 0 - - - - - HERPUD2 64224 genome.wustl.edu 37 7 35673362 35673362 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022373.4 -1 validated p.S387P 1.000 258 0% 163 28.8% 23 39.1% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL ELMO1 9844 genome.wustl.edu 37 7 37264525 37264525 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014800.9 -1 reviewed p.A220 0.000 288 0% 152 30.9% 4 25% - - - superfamily_ARM repeat ELMO1 9844 genome.wustl.edu 37 7 37298953 37298953 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014800.9 -1 reviewed p.A82 0.998 317 0% 183 26.8% 3 0% - - - NULL GPR141 353345 genome.wustl.edu 37 7 37780418 37780418 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181791.1 +1 provisional p.T141 0.000 559 0% 384 33.1% 1 0% - - - HMMPfam_7tm_1,superfamily_SSF81321 SFRP4 6424 genome.wustl.edu 37 7 37947238 37947238 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003014.3 -1 reviewed p.R295Q 0.022 135 0% 82 23.2% 91 0% benign(0.011) tolerated(0.45) neutral(0.013) NULL EPDR1 54749 genome.wustl.edu 37 7 37988528 37988528 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017549.3 +1 reviewed p.T239I 0.960 509 0% 280 27.9% 10 30% possibly_damaging(0.697) tolerated(0.08) deleterious(0.550) HMMPfam_Ependymin VPS41 27072 genome.wustl.edu 37 7 38796553 38796553 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014396.3 -1 reviewed p.A527D 1.000 249 0% 212 13.2% 18 5.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40 repeat-like,superfamily_ARM repeat INHBA 3624 genome.wustl.edu 37 7 41729843 41729843 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002192.2 -1 reviewed p.R229Q 0.988 93 0% 57 21.1% 1 0% possibly_damaging(0.72) tolerated(0.48) neutral(0.272) HMMPfam_TGFb_propeptide GLI3 2737 genome.wustl.edu 37 7 42012008 42012008 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000168.5 -1 reviewed p.Q677H 1.000 152 0% 68 35.3% 0 - benign(0) deleterious(0.03) neutral(0.364) NULL GLI3 2737 genome.wustl.edu 37 7 42262746 42262746 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000168.5 -1 reviewed p.S36F 1.000 424 0% 214 27.6% 0 - probably_damaging(0.976) deleterious(0) deleterious(0.863) NULL C7orf44 55744 genome.wustl.edu 37 7 43679205 43679205 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018224.2 -1 validated p.N139 0.000 203 0% 106 33% 96 45.8% - - - NULL SPDYE1 285955 genome.wustl.edu 37 7 44040748 44040748 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175064.2 +1 validated p.P42T 0.020 364 0% 224 9.4% 1 0% probably_damaging(0.98) tolerated(0.09) deleterious(0.720) NULL SPDYE1 285955 genome.wustl.edu 37 7 44042398 44042398 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175064.2 +1 validated p.A157S 0.484 542 0.2% 385 9.9% 3 0% possibly_damaging(0.773) deleterious(0.02) deleterious(0.670) NULL POLM 27434 genome.wustl.edu 37 7 44112928 44112928 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013284.2 -1 validated p.G483C 1.000 78 1.3% 44 40.9% 10 60% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_POLXc,superfamily_SSF81301 POLD2 5425 genome.wustl.edu 37 7 44157585 44157585 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001127218.1 -1 validated p.A100D 1.000 90 0% 41 31.7% 141 45.3% benign(0.086) tolerated(0.44) neutral(0.019) NULL MYL7 58498 genome.wustl.edu 37 7 44180894 44180894 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000457910 -1 known p.A4V 0.070 49 0% 25 32% 0 - unknown(0) - - NULL NUDCD3 23386 genome.wustl.edu 37 7 44425715 44425715 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015332.3 -1 reviewed p.V327 1.000 106 0% 54 18.5% 29 31% - - - NULL NUDCD3 23386 genome.wustl.edu 37 7 44524647 44524647 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015332.3 -1 reviewed p.A143 0.000 222 0.5% 141 32.6% 18 61.1% - - - NULL NPC1L1 29881 genome.wustl.edu 37 7 44571808 44571808 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013389.2 -1 reviewed p.R806 0.002 88 0% 31 29% 0 - - - - HMMPfam_Patched NPC1L1 29881 genome.wustl.edu 37 7 44579896 44579896 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013389.2 -1 reviewed p.A34T 1.000 49 0% 27 29.6% 0 - benign(0.003) tolerated(0.23) neutral(0.042) NULL DDX56 54606 genome.wustl.edu 37 7 44609693 44609693 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019082.2 -1 reviewed p.I349V 1.000 36 0% 15 33.3% 110 41.8% benign(0.168) tolerated(0.45) neutral(0.027) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases OGDH 4967 genome.wustl.edu 37 7 44714075 44714075 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002541.3 +1 reviewed p.V285A 0.994 155 0% 92 27.2% 27 3.7% benign(0.05) tolerated(0.45) neutral(0.015) HMMPfam_E1_dh,superfamily_SSF52518 CCM2 83605 genome.wustl.edu 37 7 45113873 45113873 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001029835.2 +1 reviewed p.R328H 1.000 14 0% 12 33.3% 63 44.4% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ADCY1 107 genome.wustl.edu 37 7 45650087 45650087 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021116.2 +1 reviewed p.D300V 1.000 53 0% 30 30% 0 - benign(0.301) deleterious(0.01) deleterious(0.499) HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase ADCY1 107 genome.wustl.edu 37 7 45742986 45742986 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021116.2 +1 reviewed p.E822 0.998 99 0% 48 22.9% 1 0% - - - NULL IGFBP1 3484 genome.wustl.edu 37 7 45930178 45930178 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000483548 +1 known p.R11Q 0.013 132 0% 71 25.4% 1 0% - - - NULL IGFBP3 3486 genome.wustl.edu 37 7 45954426 45954426 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001013398.1 -1 reviewed p.S296N 1.000 53 0% 28 25% 81 1.2% benign(0.106) tolerated(0.21) neutral(0.052) superfamily_Thyroglobulin type-1 domain IGFBP3 3486 genome.wustl.edu 37 7 45957011 45957011 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001013398.1 -1 reviewed p.R150H 0.000 154 0% 66 25.8% 40 12.5% benign(0.003) tolerated(0.39) neutral(0.016) NULL TNS3 64759 genome.wustl.edu 37 7 47342724 47342724 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022748.10 -1 validated p.G1094E 0.925 51 0% 18 33.3% 20 20% benign(0.018) tolerated(0.8) neutral(0.001) NULL TNS3 64759 genome.wustl.edu 37 7 47384537 47384537 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022748.10 -1 validated p.P851S 1.000 125 0% 83 32.5% 19 42.1% probably_damaging(0.995) tolerated(0.08) deleterious(0.758) NULL TNS3 64759 genome.wustl.edu 37 7 47408008 47408008 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022748.10 -1 validated p.R745 0.000 123 0% 49 28.6% 20 10% - - - NULL TNS3 64759 genome.wustl.edu 37 7 47474894 47474894 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022748.10 -1 validated p.V104I 1.000 88 0% 69 27.5% 17 17.6% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PKD1L1 168507 genome.wustl.edu 37 7 47814754 47814754 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138295.2 -1 reviewed p.I2846T 0.000 255 0% 136 33.8% 0 - unknown(0) - - NULL PKD1L1 168507 genome.wustl.edu 37 7 47898329 47898329 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138295.2 -1 reviewed p.S1435L 0.001 346 0% 206 31.6% 1 0% benign(0.062) tolerated(0.06) neutral(0.327) NULL ABCA13 154664 genome.wustl.edu 37 7 48335383 48335383 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152701.3 +1 reviewed p.K3014N 0.000 390 0.3% 171 15.2% 1 0% possibly_damaging(0.916) - - NULL ABCA13 154664 genome.wustl.edu 37 7 48353866 48353866 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152701.3 +1 reviewed p.G3240D 0.789 76 0% 62 12.9% 1 0% possibly_damaging(0.95) - - NULL ABCA13 154664 genome.wustl.edu 37 7 48467392 48467392 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000453246 +1 known p.Q429* 0.047 82 0% 47 40.4% 0 - - - - NULL ABCA13 154664 genome.wustl.edu 37 7 48567857 48567857 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000453246 +1 known p.W1022* 1.000 70 0% 65 36.9% 1 0% probably_damaging(0.975) - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ZPBP 11055 genome.wustl.edu 37 7 50070739 50070739 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007009.2 -1 validated p.V219I 0.998 406 0% 304 26.6% 0 - possibly_damaging(0.937) tolerated(0.06) deleterious(0.706) HMMPfam_Sp38 ZPBP 11055 genome.wustl.edu 37 7 50097728 50097728 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007009.2 -1 validated p.R115H 0.022 238 0% 179 12.3% 0 - benign(0.01) tolerated(0.1) neutral(0.287) HMMPfam_Sp38 IKZF1 10320 genome.wustl.edu 37 7 50468244 50468244 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006060.3 +1 validated p.T440I 1.000 54 0% 36 22.2% 1 0% - - - NULL DDC 1644 genome.wustl.edu 37 7 50534916 50534916 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000790.3 -1 reviewed p.L413P 0.996 259 0% 170 14.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pyridoxal_deC,superfamily_PLP-dependent transferases DDC 1644 genome.wustl.edu 37 7 50560675 50560675 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000380984 -1 known p.L325M 0.001 62 0% 37 10.8% 0 - unknown(0) deleterious(0) - superfamily_PLP-dependent transferases COBL 23242 genome.wustl.edu 37 7 51096511 51096511 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015198.3 -1 validated p.S761Y 0.000 111 0% 49 30.6% 16 62.5% possibly_damaging(0.644) deleterious(0.02) deleterious(0.609) NULL COBL 23242 genome.wustl.edu 37 7 51096591 51096591 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015198.3 -1 validated p.D734 0.394 113 0% 49 24.5% 12 41.6% - - - NULL COBL 23242 genome.wustl.edu 37 7 51203979 51203979 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015198.3 -1 validated p.T278M 0.000 88 0% 47 27.7% 11 36.3% benign(0.153) deleterious(0) neutral(0.458) HMMPfam_Cobl POM121L12 285877 genome.wustl.edu 37 7 53104173 53104173 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182595.3 +1 validated p.A270V 0.000 106 0% 49 22.4% 0 - probably_damaging(0.988) - - NULL EGFR 1956 genome.wustl.edu 37 7 55214316 55214316 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005228.3 +1 reviewed p.V148M 0.984 85 0% 34 23.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Recep_L_domain,superfamily_L domain-like EGFR 1956 genome.wustl.edu 37 7 55227854 55227854 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005228.3 +1 reviewed p.V441I 0.897 177 0% 79 19% 6 16.6% benign(0.009) tolerated(0.31) neutral(0.028) HMMPfam_Recep_L_domain,superfamily_L domain-like EGFR 1956 genome.wustl.edu 37 7 55259423 55259423 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005228.3 +1 reviewed p.Y827* 1.000 170 0% 108 25.9% 6 0% - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) LANCL2 55915 genome.wustl.edu 37 7 55466117 55466117 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018697.3 +1 validated p.G108 1.000 181 0% 99 29.3% 12 33.3% - - - HMMPfam_LANC_like ENSG00000206603 0 genome.wustl.edu 37 7 56123061 56123061 + RNA SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000383876 +1 novel NULL 1.000 270 0% 131 29.8% 0 - - - - - CCT6A 908 genome.wustl.edu 37 7 56126368 56126368 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001762.3 +1 reviewed p.R314H 1.000 223 0.4% 131 29% 181 35.9% possibly_damaging(0.649) deleterious(0.01) deleterious(0.634) HMMPfam_Cpn60_TCP1,superfamily_GroEL-ATPase,superfamily_SSF52029,superfamily_SSF54849 SUMF2 25870 genome.wustl.edu 37 7 56141844 56141844 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000451338 +1 known p.S123N 0.000 241 0% 145 24.8% 0 - unknown(0) tolerated(0.51) - HMMPfam_DUF323 PHKG1 5260 genome.wustl.edu 37 7 56155321 56155321 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006213.3 -1 reviewed p.L78M 1.000 50 0% 21 42.9% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PHKG1 5260 genome.wustl.edu 37 7 56156559 56156559 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006213.3 -1 reviewed p.L26M 1.000 64 0% 24 25% 1 0% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase LOC441228 441228 genome.wustl.edu 37 7 56358437 56358437 + RNA SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XR_016387.3 +1 model NULL 1.000 346 0% 181 14.4% 0 - - - - - ZNF479 90827 genome.wustl.edu 37 7 57187710 57187710 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033273.1 -1 provisional p.G471D 0.996 424 0.5% 324 21.9% 0 - possibly_damaging(0.591) deleterious(0.04) deleterious(0.553) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF479 90827 genome.wustl.edu 37 7 57187859 57187859 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033273.1 -1 provisional p.S421 0.000 437 0% 364 24.2% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF736 728927 genome.wustl.edu 37 7 63809076 63809076 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000423484 +1 known p.H279Y 1.000 191 0.5% 131 22.1% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF107 51427 genome.wustl.edu 37 7 64167156 64167156 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001013746.1 +1 validated p.K158N 0.988 287 0% 212 32.1% 2 0% probably_damaging(0.997) tolerated(0.06) deleterious(0.788) superfamily_SSF57667 ZNF138 7697 genome.wustl.edu 37 7 64276028 64276028 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006524.2 +1 validated p.S12P 0.011 267 0% 125 31.2% 3 33.3% benign(0) tolerated(1) - NULL ZNF273 10793 genome.wustl.edu 37 7 64389020 64389020 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021148.2 +1 reviewed p.A438 0.181 228 0% 139 29.5% 4 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF117 51351 genome.wustl.edu 37 7 64438524 64438524 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015852.3 -1 validated p.C475 0.028 188 0% 168 11.9% 13 7.6% - - - superfamily_C2H2 and C2HC zinc fingers ENSG00000245043 0 genome.wustl.edu 37 7 64533860 64533860 + RNA SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000501153 -1 known NULL 1.000 57 0% 37 16.2% 4 0% - - - - LOC442572 442572 genome.wustl.edu 37 7 66744938 66744938 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_499314.5 +1 model p.T98 0.004 331 0% 193 29.5% 0 - - - - NULL AUTS2 26053 genome.wustl.edu 37 7 70255912 70255912 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015570.2 +1 validated p.T1237M 1.000 37 0% 17 29.4% 2 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL TBL2 26608 genome.wustl.edu 37 7 72987682 72987682 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012453.2 -1 reviewed p.A189V 0.997 97 0% 54 16.7% 49 40.8% probably_damaging(0.996) tolerated(0.26) deleterious(0.496) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 TBL2 26608 genome.wustl.edu 37 7 72988735 72988735 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012453.2 -1 reviewed p.R80H 0.992 35 0% 15 26.7% 51 33.3% probably_damaging(0.973) tolerated(0.09) deleterious(0.712) HMMSmart_WD40,HMMPfam_WD40 CLIP2 7461 genome.wustl.edu 37 7 73800909 73800909 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003388.4 +1 reviewed p.T846 0.981 65 0% 36 30.6% 6 50% - - - NULL GTF2IRD1 9569 genome.wustl.edu 37 7 73922429 73922429 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016328.1 +1 reviewed p.R7C 1.000 72 0% 24 25% 3 33.3% probably_damaging(0.994) deleterious(0.02) deleterious(0.835) NULL LOC100132585 100132585 genome.wustl.edu 37 7 74323165 74323165 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_001722111.2 -1 model p.A177V 0.085 111 0% 52 46.2% 4 50% - - - NULL POM121C 100101267 genome.wustl.edu 37 7 75052179 75052179 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001099415.1 -1 validated p.A452 0.001 97 0% 76 17.1% 26 46.1% - - - NULL POM121C 100101267 genome.wustl.edu 37 7 75066854 75066854 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001099415.1 -1 validated p.I140T 1.000 569 0% 295 31.2% 30 63.3% possibly_damaging(0.911) deleterious(0) deleterious(0.807) NULL PMS2P3 5387 genome.wustl.edu 37 7 75144030 75144030 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000301956 -1 known p.L205I 1.000 558 0% 335 28.4% 9 22.2% - - - HMMPfam_HATPase_c,superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase RSBN1L 222194 genome.wustl.edu 37 7 77397997 77397997 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198467.2 +1 validated p.T501M 1.000 122 0% 57 22.8% 25 36% probably_damaging(0.99) tolerated(0.09) deleterious(0.738) NULL TMEM60 85025 genome.wustl.edu 37 7 77423356 77423356 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032936.3 -1 validated p.P112H 1.000 253 0% 159 25.8% 63 36.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PHTF2 57157 genome.wustl.edu 37 7 77549647 77549647 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001127357.1 +1 validated p.G242 1.000 162 0% 110 15.5% 11 9% - - - NULL PHTF2 57157 genome.wustl.edu 37 7 77579118 77579118 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001127357.1 +1 validated p.Y661H 1.000 42 0% 28 28.6% 19 47.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL GNAI1 2770 genome.wustl.edu 37 7 79846721 79846721 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002069.5 +1 validated p.A326V 1.000 304 0% 214 25.7% 40 45% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases CD36 948 genome.wustl.edu 37 7 80301355 80301355 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000072.3 +1 reviewed p.P375H 1.000 100 0% 79 15.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CD36 SEMA3C 10512 genome.wustl.edu 37 7 80432040 80432040 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006379.2 -1 validated p.A286V 1.000 188 0% 103 12.6% 36 5.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema HGF 3082 genome.wustl.edu 37 7 81334828 81334828 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000601.4 -1 reviewed p.R630* 0.975 178 0.6% 147 29.9% 0 - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases HGF 3082 genome.wustl.edu 37 7 81372699 81372699 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000601.4 -1 reviewed p.R279C 1.000 259 0.4% 201 24.9% 2 0% possibly_damaging(0.814) deleterious(0.01) deleterious(0.713) HMMPfam_Kringle,HMMSmart_SM00130,superfamily_Kringle-like CACNA2D1 781 genome.wustl.edu 37 7 81589056 81589056 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000722.2 -1 reviewed p.L1019R 0.999 79 0% 71 33.8% 11 63.6% possibly_damaging(0.734) deleterious(0.02) deleterious(0.651) NULL CACNA2D1 781 genome.wustl.edu 37 7 81596485 81596485 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000722.2 -1 reviewed p.D834 1.000 199 0% 191 26.7% 2 50% - - - NULL PCLO 27445 genome.wustl.edu 37 7 82538249 82538249 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033026.5 -1 validated p.R4461* 1.000 296 0.3% 279 11.1% 1 0% - - - NULL PCLO 27445 genome.wustl.edu 37 7 82580154 82580154 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033026.5 -1 validated p.K3250N 1.000 272 0% 201 24.4% 2 50% probably_damaging(0.995) - - NULL PCLO 27445 genome.wustl.edu 37 7 82581179 82581179 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033026.5 -1 validated p.V3030 0.221 298 0% 174 28.7% 2 0% - - - NULL PCLO 27445 genome.wustl.edu 37 7 82584681 82584681 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033026.5 -1 validated p.I1863T 1.000 850 0.1% 615 33% 0 - probably_damaging(0.959) - - NULL PCLO 27445 genome.wustl.edu 37 7 82585631 82585631 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033026.5 -1 validated p.S1546 0.760 552 0% 406 34% 0 - - - - NULL PCLO 27445 genome.wustl.edu 37 7 82785657 82785657 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033026.5 -1 validated p.P100 0.411 89 0% 57 35.1% 0 - - - - NULL SEMA3A 10371 genome.wustl.edu 37 7 83823811 83823811 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006080.2 -1 reviewed p.R31M 1.000 295 0% 198 13.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Sema SEMA3D 223117 genome.wustl.edu 37 7 84644524 84644524 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152754.2 -1 validated p.L518 1.000 544 0% 467 11.6% 0 - - - - superfamily_Sema GRM3 2913 genome.wustl.edu 37 7 86394748 86394748 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000840.2 +1 reviewed p.L96S 1.000 865 0.1% 689 26.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I GRM3 2913 genome.wustl.edu 37 7 86394905 86394905 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000840.2 +1 reviewed p.G148 0.984 468 0% 368 29.6% 0 - - - - HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I C7orf23 79161 genome.wustl.edu 37 7 86827213 86827213 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000423734 -1 known p.S93I 0.000 115 0% 136 27.2% 0 - unknown(0) - - NULL CROT 54677 genome.wustl.edu 37 7 87011847 87011847 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001143935.1 +1 reviewed p.R458I 0.999 463 0% 382 29.1% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases ABCB4 5244 genome.wustl.edu 37 7 87031457 87031457 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000440025 -1 known p.L77I 1.000 322 0% 209 19.6% 9 11.1% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases ABCB4 5244 genome.wustl.edu 37 7 87035716 87035716 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018849.2 -1 reviewed p.S1132N 1.000 523 0% 342 25.1% 1 100% probably_damaging(0.953) deleterious(0) deleterious(0.841) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCB1 5243 genome.wustl.edu 37 7 87179255 87179255 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000927.3 -1 reviewed p.R489H 1.000 836 0.2% 504 27.6% 35 34.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases DBF4 10926 genome.wustl.edu 37 7 87514321 87514321 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006716.3 +1 validated p.I83V 1.000 170 0% 99 24.2% 75 41.3% probably_damaging(0.987) tolerated(0.45) neutral(0.449) NULL DBF4 10926 genome.wustl.edu 37 7 87537118 87537118 + Silent SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006716.3 +1 validated p.P555 0.002 460 0% 279 11.5% 109 25.6% - - - NULL ZNF804B 219578 genome.wustl.edu 37 7 88965566 88965566 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181646.2 +1 provisional p.E1090D 1.000 297 0% 191 14.7% 0 - possibly_damaging(0.893) tolerated(0.71) neutral(0.353) NULL GTPBP10 85865 genome.wustl.edu 37 7 90014437 90014437 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033107.2 +1 validated p.A378D 0.004 364 0% 234 14.1% 14 21.4% benign(0.323) tolerated(0.11) neutral(0.373) NULL CDK14 5218 genome.wustl.edu 37 7 90355996 90355996 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012395.2 +1 validated p.F62Y 1.000 619 0% 473 28.3% 5 80% benign(0.15) deleterious(0) neutral(0.458) NULL CDK14 5218 genome.wustl.edu 37 7 90492545 90492545 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012395.2 +1 validated p.I182 1.000 157 0% 113 29.2% 4 50% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CDK14 5218 genome.wustl.edu 37 7 90741891 90741891 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012395.2 +1 validated p.S379P 1.000 599 0% 435 26% 7 42.8% possibly_damaging(0.503) deleterious(0.03) deleterious(0.532) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase AKAP9 10142 genome.wustl.edu 37 7 91645474 91645474 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005751.4 +1 reviewed p.T1215N 1.000 239 0% 154 24.7% 2 100% benign(0.131) deleterious(0.02) neutral(0.394) NULL AKAP9 10142 genome.wustl.edu 37 7 91691662 91691662 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005751.4 +1 reviewed p.R1947C 1.000 354 0% 280 37.1% 4 50% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL CYP51A1 1595 genome.wustl.edu 37 7 91743043 91743043 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000786.3 -1 reviewed p.N489T 1.000 262 0% 192 31.2% 55 85.4% possibly_damaging(0.868) deleterious(0.01) deleterious(0.743) HMMPfam_p450,superfamily_Cytochrome P450 ANKIB1 54467 genome.wustl.edu 37 7 92027598 92027598 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019004.1 +1 validated p.L869M 1.000 80 0% 46 26.1% 33 51.5% benign(0.013) tolerated(0.18) neutral(0.057) NULL ERVW-1 30816 genome.wustl.edu 37 7 92098573 92098573 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014590.3 -1 reviewed p.L375I 0.481 138 0% 70 24.3% 0 - probably_damaging(0.999) tolerated(0.05) deleterious(0.836) HMMPfam_TLV_coat PEX1 5189 genome.wustl.edu 37 7 92147067 92147067 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000466.2 -1 reviewed p.S254 0.995 162 0% 106 30.2% 20 40% - - - NULL CDK6 1021 genome.wustl.edu 37 7 92247427 92247427 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001145306.1 -1 reviewed p.F265I 1.000 134 0% 73 42.5% 6 66.6% benign(0) tolerated(0.77) neutral(0.001) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SAMD9 54809 genome.wustl.edu 37 7 92730865 92730865 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017654.2 -1 validated p.D1516Y 0.995 347 0% 242 30.2% 4 50% possibly_damaging(0.677) tolerated(0.09) deleterious(0.537) NULL SAMD9 54809 genome.wustl.edu 37 7 92731610 92731610 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017654.2 -1 validated p.S1267 0.511 529 0% 308 17.9% 0 - - - - NULL SAMD9L 219285 genome.wustl.edu 37 7 92763820 92763820 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152703.2 -1 validated p.L489I 1.000 933 0% 597 27.1% 1 100% possibly_damaging(0.653) deleterious(0) deleterious(0.674) NULL SAMD9L 219285 genome.wustl.edu 37 7 92763891 92763891 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152703.2 -1 validated p.A465V 0.998 737 0% 456 30% 0 - possibly_damaging(0.842) deleterious(0.02) deleterious(0.705) NULL CCDC132 55610 genome.wustl.edu 37 7 92905598 92905598 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017667.2 +1 validated p.Q308R 1.000 247 0% 172 10.5% 23 21.7% possibly_damaging(0.731) tolerated(0.28) neutral(0.298) HMMPfam_DUF2450 CCDC132 55610 genome.wustl.edu 37 7 92940568 92940568 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000458707 +1 known p.T400M 1.000 464 0% 339 30.4% 14 42.8% - - - NULL CALCR 799 genome.wustl.edu 37 7 93055881 93055881 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001742.3 -1 reviewed p.R404 0.999 84 0% 45 33.3% 0 - - - - superfamily_SSF81321 CALCR 799 genome.wustl.edu 37 7 93108738 93108738 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001742.3 -1 reviewed p.R45* 0.001 365 0% 344 29.4% 0 - - - - superfamily_SSF111418 TFPI2 7980 genome.wustl.edu 37 7 93519481 93519481 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006528.2 -1 provisional p.E80G 0.020 123 0% 56 28.6% 401 9.2% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_Kunitz_BPTI,HMMSmart_KU,PatternScan_BPTI_KUNITZ_1,superfamily_Prot_inh_Kunz-m GNGT1 2792 genome.wustl.edu 37 7 93540144 93540144 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021955.3 +1 validated p.R47* 0.403 302 0% 203 31% 2 100% - - - HMMPfam_G-gamma,HMMSmart_SM00224,superfamily_Transducin (heterotrimeric G protein) gamma chain COL1A2 1278 genome.wustl.edu 37 7 94048844 94048844 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000089.3 +1 reviewed p.A687D 1.000 106 0% 86 12.8% 851 75.7% unknown(0) deleterious(0.05) - HMMPfam_Collagen SGCE 8910 genome.wustl.edu 37 7 94228092 94228092 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000428696 -1 known p.R395H 0.043 233 0% 197 13.2% 127 15.7% - - - HMMPfam_Sarcoglycan_2 PPP1R9A 55607 genome.wustl.edu 37 7 94750068 94750068 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017650.2 +1 validated p.A525S 1.000 471 0% 332 30.1% 9 44.4% possibly_damaging(0.918) deleterious(0) deleterious(0.813) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like PON2 5445 genome.wustl.edu 37 7 95035431 95035431 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000305.2 -1 reviewed p.E302D 1.000 368 0% 224 11.2% 105 0.9% possibly_damaging(0.499) tolerated(0.09) neutral(0.463) superfamily_SSF63829 SLC25A13 10165 genome.wustl.edu 37 7 95822350 95822350 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014251.2 -1 reviewed p.A205D 1.000 356 0% 246 26% 13 38.4% benign(0.208) deleterious(0.02) neutral(0.403) superfamily_SSF47473 SLC25A13 10165 genome.wustl.edu 37 7 95822481 95822481 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014251.2 -1 reviewed p.E161 0.999 349 0% 232 28.9% 30 53.3% - - - superfamily_SSF47473 ENSG00000220987 0 genome.wustl.edu 37 7 95936125 95936125 + RNA SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000408060 -1 novel NULL 0.148 285 0% 154 21.4% 0 - - - - - LMTK2 22853 genome.wustl.edu 37 7 97823772 97823772 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014916.3 +1 reviewed p.S1332N 1.000 92 0% 54 11.1% 12 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL BAIAP2L1 55971 genome.wustl.edu 37 7 97949385 97949385 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018842.4 -1 reviewed p.D111 0.994 207 0% 113 34.5% 45 44.4% - - - HMMPfam_IMD TRRAP 8295 genome.wustl.edu 37 7 98515214 98515214 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003496.2 +1 validated p.G845V 1.000 113 0% 60 10% 6 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat SMURF1 57154 genome.wustl.edu 37 7 98636096 98636096 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020429.1 -1 reviewed p.A561T 1.000 69 0% 41 31.7% 8 37.5% benign(0.134) tolerated(0.17) neutral(0.070) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain SMURF1 57154 genome.wustl.edu 37 7 98645350 98645350 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020429.1 -1 reviewed p.A396V 1.000 240 0% 108 11.1% 14 7.1% possibly_damaging(0.502) tolerated(0.14) neutral(0.417) superfamily_Hect E3 ligase catalytic domain CYP3A5 1577 genome.wustl.edu 37 7 99262882 99262882 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000777.2 -1 reviewed p.I193V 0.759 409 0% 240 27.1% 1 0% benign(0) tolerated(0.66) neutral(0.003) HMMPfam_p450,superfamily_Cytochrome P450 CYP3A43 64816 genome.wustl.edu 37 7 99441767 99441767 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022820.3 +1 reviewed p.L74M 0.672 105 0% 73 23.3% 0 - benign(0.002) tolerated(0.08) neutral(0.300) HMMPfam_p450,superfamily_Cytochrome P450 MCM7 4176 genome.wustl.edu 37 7 99695275 99695275 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005916.3 -1 reviewed p.G360E 1.000 1055 0.1% 653 10.6% 84 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MCM,HMMSmart_SM00350,superfamily_P-loop containing nucleoside triphosphate hydrolases GPC2 221914 genome.wustl.edu 37 7 99773202 99773202 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152742.1 -1 provisional p.R214H 1.000 33 0% 18 33.3% 1 0% benign(0.089) tolerated(0.08) neutral(0.306) HMMPfam_Glypican GPC2 221914 genome.wustl.edu 37 7 99773228 99773228 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152742.1 -1 provisional p.P205 1.000 41 0% 21 28.6% 2 100% - - - HMMPfam_Glypican GPC2 221914 genome.wustl.edu 37 7 99773840 99773840 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152742.1 -1 provisional p.R105 1.000 73 0% 43 30.2% 3 66.6% - - - HMMPfam_Glypican STAG3 10734 genome.wustl.edu 37 7 99798736 99798736 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012447.2 +1 validated p.E695D 1.000 204 0% 119 28.6% 10 40% benign(0.053) tolerated(1) neutral(0.004) superfamily_ARM repeat PILRA 29992 genome.wustl.edu 37 7 99987718 99987718 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013439.2 +1 reviewed p.R221M 0.030 186 0% 97 28.9% 7 0% probably_damaging(0.962) deleterious(0) deleterious(0.850) NULL LRCH4 4034 genome.wustl.edu 37 7 100179706 100179706 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002319.3 -1 reviewed p.A150 0.975 40 0% 18 33.3% 41 43.9% - - - HMMPfam_LRR_1,superfamily_SSF52058 FBXO24 26261 genome.wustl.edu 37 7 100187700 100187700 + Splice_Site SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033506.2 +1 reviewed e2+2 1.000 293 0% 163 14.1% 0 - - - - - TFR2 7036 genome.wustl.edu 37 7 100228566 100228566 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003227.3 -1 reviewed p.T406A 0.001 97 0% 51 23.5% 12 50% unknown(0) - - superfamily_Transferrin receptor ectodomain apical domain,superfamily_Zn-dependent exopeptidases EPO 2056 genome.wustl.edu 37 7 100319671 100319671 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000799.2 +1 reviewed p.E82D 1.000 102 0% 37 27% 1 0% benign(0) tolerated(0.55) neutral(0.007) HMMPfam_EPO_TPO,superfamily_4_helix_cytokine ZAN 7455 genome.wustl.edu 37 7 100334609 100334609 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003386.1 +1 reviewed p.R144H 0.000 15 0% 10 40% 0 - benign(0.293) - - HMMPfam_MAM,HMMSmart_SM00137 ZAN 7455 genome.wustl.edu 37 7 100349948 100349948 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003386.1 +1 reviewed p.T740 0.000 105 1% 61 21.3% 0 - - - - NULL ZAN 7455 genome.wustl.edu 37 7 100364726 100364726 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003386.1 +1 reviewed p.T1569I 0.679 132 0% 69 24.6% 0 - probably_damaging(0.999) tolerated(0.09) deleterious(0.787) HMMPfam_VWD,HMMSmart_SM00216,HMMSmart_SM00215 ZAN 7455 genome.wustl.edu 37 7 100364822 100364822 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003386.1 +1 reviewed p.A1601V 0.002 118 0% 68 29.4% 0 - probably_damaging(0.998) tolerated(0.13) deleterious(0.727) HMMPfam_VWD,HMMSmart_SM00216 SRRT 51593 genome.wustl.edu 37 7 100482660 100482660 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015908.5 +1 validated p.A386 0.016 212 0% 98 20.4% 85 43.5% - - - NULL SRRT 51593 genome.wustl.edu 37 7 100485933 100485933 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000342198 +1 known p.R192H 0.003 110 0% 46 58.7% 102 81.3% possibly_damaging(0.915) - - HMMPfam_ARS2 MUC17 140453 genome.wustl.edu 37 7 100680956 100680956 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001040105.1 +1 provisional p.A2087T 0.337 423 0% 273 13.9% 0 - unknown(0) - - NULL MUC17 140453 genome.wustl.edu 37 7 100681215 100681215 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001040105.1 +1 provisional p.V2173G 0.002 595 0.2% 330 14.8% 0 - unknown(0) - - NULL MUC17 140453 genome.wustl.edu 37 7 100686231 100686231 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001040105.1 +1 provisional p.P3845H 0.114 105 0% 62 25.8% 0 - probably_damaging(0.998) - - NULL SERPINE1 5054 genome.wustl.edu 37 7 100777057 100777057 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000602.3 +1 reviewed p.A261D 0.980 379 0% 216 32.4% 8 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin AP1S1 1174 genome.wustl.edu 37 7 100799899 100799899 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001283.3 +1 reviewed p.R10W 1.000 52 0% 19 47.4% 129 51.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Clat_adaptor_s,superfamily_SNARE-like RABL5 64792 genome.wustl.edu 37 7 100959630 100959630 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022777.2 -1 validated p.L134M 0.012 175 0% 118 13.6% 80 13.7% benign(0.264) tolerated(0.24) neutral(0.065) NULL CUX1 1523 genome.wustl.edu 37 7 101845211 101845211 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181552.2 +1 reviewed p.Y878* 1.000 42 0% 27 48.1% 2 0% - - - NULL CUX1 1523 genome.wustl.edu 37 7 101870948 101870948 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181552.2 +1 reviewed p.L1144 0.625 69 0% 26 50% 1 100% - - - HMMPfam_CUT ALKBH4 54784 genome.wustl.edu 37 7 102097870 102097870 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017621.2 -1 provisional p.A294T 0.258 28 0% 11 45.5% 15 53.3% probably_damaging(0.977) deleterious(0.01) deleterious(0.825) NULL LRWD1 222229 genome.wustl.edu 37 7 102106412 102106412 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152892.1 +1 provisional p.A77T 0.879 45 0% 25 24% 26 34.6% benign(0.003) tolerated(1) - superfamily_SSF52058 ARMC10 83787 genome.wustl.edu 37 7 102727151 102727151 + Missense_Mutation SNP G G T rs76904063 TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031905.3 +1 validated p.E156D 1.000 265 0% 175 26.9% 71 26.7% benign(0.004) tolerated(0.18) neutral(0.056) HMMPfam_DUF634,superfamily_ARM repeat DNAJC2 27000 genome.wustl.edu 37 7 102968114 102968114 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014377.1 -1 reviewed p.C140Y 1.000 168 0% 134 31.3% 36 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DnaJ,HMMSmart_SM00271,superfamily_Chaperone J-domain,PatternScan_DNAJ_1 SLC26A5 375611 genome.wustl.edu 37 7 103030920 103030920 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198999.2 -1 reviewed p.L423 0.998 313 0% 196 14.8% 0 - - - - HMMPfam_Sulfate_transp ORC5 5001 genome.wustl.edu 37 7 103777287 103777287 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002553.2 -1 reviewed p.Q401H 1.000 506 0.2% 390 20.3% 30 66.6% probably_damaging(1) tolerated(0.13) deleterious(0.752) NULL SRPK2 6733 genome.wustl.edu 37 7 104783702 104783702 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182692.1 -1 validated p.R297C 1.000 503 0.2% 296 12.5% 52 15.3% probably_damaging(0.999) tolerated(0.11) deleterious(0.762) superfamily_Kinase_like,HMMPfam_Pkinase PUS7 54517 genome.wustl.edu 37 7 105111266 105111266 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019042.3 -1 validated p.E423* 1.000 223 0% 142 25.4% 6 16.6% - - - HMMPfam_TruD,superfamily_PsdUridine_synth_cat_dom PUS7 54517 genome.wustl.edu 37 7 105112623 105112623 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019042.3 -1 validated p.S398Y 1.000 101 0% 52 13.5% 15 46.6% possibly_damaging(0.549) deleterious(0.01) deleterious(0.592) HMMPfam_TruD,superfamily_PsdUridine_synth_cat_dom RINT1 60561 genome.wustl.edu 37 7 105204232 105204232 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021930.4 +1 validated p.T575N 0.289 160 1.3% 106 35.8% 14 64.2% benign(0.026) tolerated(0.39) neutral(0.017) HMMPfam_RINT1_TIP1 RINT1 60561 genome.wustl.edu 37 7 105207701 105207701 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021930.4 +1 validated p.Q774 0.946 235 0% 133 35.3% 25 36% - - - HMMPfam_RINT1_TIP1 CDHR3 222256 genome.wustl.edu 37 7 105636732 105636732 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152750.4 +1 validated p.G215 0.006 22 0.000 9 0.556 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like SYPL1 6856 genome.wustl.edu 37 7 105738265 105738265 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000464029 -1 known p.A15V 0.933 251 0% 188 12.2% 179 17.3% - - - HMMPfam_MARVEL NAMPT 10135 genome.wustl.edu 37 7 105902059 105902059 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005746.2 -1 reviewed p.G355E 1.000 310 0% 188 25% 25 52% probably_damaging(1) tolerated(0.05) deleterious(0.845) HMMPfam_NAPRTase PIK3CG 5294 genome.wustl.edu 37 7 106508374 106508374 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002649.2 +1 reviewed p.R123H 0.639 37 0% 19 42.1% 0 - possibly_damaging(0.598) tolerated(0.42) neutral(0.221) NULL PRKAR2B 5577 genome.wustl.edu 37 7 106781398 106781398 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002736.2 +1 reviewed p.R196I 1.000 197 0.5% 131 26% 1 0% possibly_damaging(0.832) tolerated(0.09) deleterious(0.613) HMMPfam_cNMP_binding,HMMSmart_cNMP,PatternScan_CNMP_BINDING_1,superfamily_cNMP_binding COG5 10466 genome.wustl.edu 37 7 106877061 106877061 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006348.3 -1 validated p.A673V 1.000 333 0% 189 31.7% 27 29.6% possibly_damaging(0.444) tolerated(0.28) neutral(0.176) NULL COG5 10466 genome.wustl.edu 37 7 106897177 106897177 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006348.3 -1 validated p.K614N 1.000 252 0% 132 18.9% 8 0% possibly_damaging(0.639) tolerated(0.1) deleterious(0.510) NULL GPR22 2845 genome.wustl.edu 37 7 107115403 107115403 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005295.2 +1 reviewed p.R300* 0.996 238 0.4% 207 21.7% 1 100% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like BCAP29 55973 genome.wustl.edu 37 7 107240866 107240866 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001008405.2 +1 validated p.E169K 0.575 139 0% 103 34% 53 33.9% benign(0.113) tolerated(0.46) neutral(0.021) HMMPfam_Bap31 SLC26A4 5172 genome.wustl.edu 37 7 107323726 107323726 + Missense_Mutation SNP G G A rs111033454 byCluster;by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000441.1 +1 reviewed p.C282Y 0.999 322 0.3% 279 31.5% 0 - probably_damaging(0.979) deleterious(0) deleterious(0.867) HMMPfam_Sulfate_transp CBLL1 79872 genome.wustl.edu 37 7 107398714 107398714 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024814.2 +1 validated p.R189 1.000 736 0% 522 25.1% 19 52.6% - - - HMMSmart_ZnF_C2H2 SLC26A3 1811 genome.wustl.edu 37 7 107408041 107408041 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000111.2 -1 reviewed p.R752C 1.000 204 0% 182 29.1% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL SLC26A3 1811 genome.wustl.edu 37 7 107432298 107432298 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000111.2 -1 reviewed p.G120D 1.000 220 0% 141 24.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_SLC26A DLD 1738 genome.wustl.edu 37 7 107545402 107545402 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000108.3 +1 reviewed e6-1 1.000 193 0% 110 24.5% 2 50% - - - - LAMB1 3912 genome.wustl.edu 37 7 107569615 107569615 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002291.2 -1 reviewed p.M1594T 0.994 416 0% 261 15.7% 27 0% benign(0) tolerated(0.57) neutral(0.006) superfamily_Prefoldin LAMB1 3912 genome.wustl.edu 37 7 107575961 107575961 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002291.2 -1 reviewed p.R1363* 0.001 654 0% 393 30.8% 21 0% - - - NULL LAMB1 3912 genome.wustl.edu 37 7 107621120 107621120 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002291.2 -1 reviewed p.C271* 1.000 215 0% 149 24.2% 7 0% - - - HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin LAMB4 22798 genome.wustl.edu 37 7 107717420 107717420 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007356.2 -1 validated p.S698F 0.012 287 0% 152 22.4% 1 100% possibly_damaging(0.903) deleterious(0.05) deleterious(0.704) NULL LAMB4 22798 genome.wustl.edu 37 7 107743497 107743497 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007356.2 -1 validated p.A391V 0.080 58 3.4% 31 25.8% 0 - benign(0.01) tolerated(1) neutral(0.001) HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,superfamily_EGF/Laminin PNPLA8 50640 genome.wustl.edu 37 7 108154614 108154614 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015723.2 -1 provisional p.P394T 1.000 1049 0.1% 758 30.3% 17 47% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_ARM repeat PNPLA8 50640 genome.wustl.edu 37 7 108155287 108155287 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015723.2 -1 provisional p.R217C 0.001 260 0% 143 25.2% 9 33.3% benign(0.003) deleterious(0.03) neutral(0.364) superfamily_ARM repeat LRRN3 54674 genome.wustl.edu 37 7 110763030 110763030 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001099658.1 +1 validated p.P68S 1.000 464 0% 328 24.1% 0 - probably_damaging(1) tolerated(0.6) deleterious(0.504) HMMSmart_SM00013,superfamily_L domain-like LRRN3 54674 genome.wustl.edu 37 7 110763957 110763957 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001099658.1 +1 validated p.R377C 1.000 267 0% 170 32.9% 2 0% probably_damaging(1) tolerated(0.12) deleterious(0.760) HMMSmart_SM00082,superfamily_L domain-like ZNF277 11179 genome.wustl.edu 37 7 111982707 111982707 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021994.2 +1 validated p.V426I 0.001 181 0% 105 40% 14 35.7% benign(0.001) tolerated(0.21) neutral(0.044) NULL TMEM168 64418 genome.wustl.edu 37 7 112423785 112423785 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022484.4 -1 validated p.A366T 1.000 780 0.3% 441 26.8% 20 30% benign(0.008) tolerated(0.05) neutral(0.345) NULL C7orf60 154743 genome.wustl.edu 37 7 112462251 112462251 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152556.2 -1 validated p.R256* 1.000 174 0% 146 31.5% 4 0% - - - NULL GPR85 54329 genome.wustl.edu 37 7 112724182 112724182 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018970.6 -1 validated p.Q199* 1.000 191 0% 120 32.5% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PPP1R3A 5506 genome.wustl.edu 37 7 113519666 113519666 + Missense_Mutation SNP G G A rs17847377 byCluster;byFrequency;by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002711.3 -1 reviewed p.S494L 0.000 347 0% 243 30% 0 - possibly_damaging(0.95) tolerated(0.06) deleterious(0.716) NULL TFEC 22797 genome.wustl.edu 37 7 115580852 115580852 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012252.2 -1 validated p.T266I 0.005 374 0% 258 15.1% 5 0% benign(0.016) tolerated(0.43) neutral(0.014) NULL TES 26136 genome.wustl.edu 37 7 115890513 115890513 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015641.2 +1 reviewed p.M222T 0.997 107 0% 64 37.5% 70 48.5% benign(0) tolerated(0.44) neutral(0.013) NULL WNT2 7472 genome.wustl.edu 37 7 116937748 116937748 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003391.2 -1 reviewed p.N257 1.000 466 0.2% 254 26.4% 9 0% - - - HMMPfam_wnt,HMMSmart_SM00097 ASZ1 136991 genome.wustl.edu 37 7 117003776 117003776 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_130768.2 -1 validated p.P434 1.000 134 0% 118 39% 0 - - - - NULL CFTR 1080 genome.wustl.edu 37 7 117232586 117232586 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000492.3 +1 reviewed p.A789S 0.000 97 0% 64 21.9% 1 0% benign(0) tolerated(0.7) neutral(0.002) NULL CTTNBP2 83992 genome.wustl.edu 37 7 117365131 117365131 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000446636 -1 known p.A900T 1.000 272 0% 172 26.7% 2 50% - - - NULL CTTNBP2 83992 genome.wustl.edu 37 7 117501335 117501335 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033427.2 -1 reviewed p.S39 0.942 61 0% 29 58.6% 0 - - - - HMMPfam_CortBP2 KCND2 3751 genome.wustl.edu 37 7 119914706 119914706 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012281.2 +1 reviewed p.A7V 1.000 65 0% 32 37.5% 0 - possibly_damaging(0.948) deleterious(0) deleterious(0.836) NULL KCND2 3751 genome.wustl.edu 37 7 119915059 119915059 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012281.2 +1 reviewed p.I125V 1.000 188 0% 76 13.2% 0 - benign(0) tolerated(0.36) neutral(0.020) HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain KCND2 3751 genome.wustl.edu 37 7 119915169 119915169 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012281.2 +1 reviewed p.A161 0.047 83 0% 32 31.2% 0 - - - - NULL PTPRZ1 5803 genome.wustl.edu 37 7 121650813 121650813 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002851.2 +1 reviewed p.E571D 0.002 265 0.4% 159 28.3% 0 - benign(0.008) tolerated(0.37) neutral(0.019) NULL AASS 10157 genome.wustl.edu 37 7 121721631 121721631 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005763.3 -1 reviewed p.N735D 1.000 226 0% 127 29.9% 1 0% benign(0.001) tolerated(0.38) neutral(0.018) HMMPfam_Saccharop_dh,superfamily_Glyceraldehyde-3-phosphate dehydrogenase-like C-terminal domain FEZF1 389549 genome.wustl.edu 37 7 121942182 121942182 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001024613.2 -1 validated p.P429S 0.000 26 0% 11 63.6% 0 - benign(0.014) tolerated(0.29) neutral(0.030) NULL FEZF1 389549 genome.wustl.edu 37 7 121944333 121944333 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001024613.2 -1 validated p.Q53 1.000 117 0% 45 20% 0 - - - - NULL CADPS2 93664 genome.wustl.edu 37 7 122111541 122111541 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017954.10 -1 reviewed p.H692Y 1.000 111 0% 68 26.5% 14 50% possibly_damaging(0.484) deleterious(0) deleterious(0.605) NULL RNF148 378925 genome.wustl.edu 37 7 122342106 122342106 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000447240 -1 known p.E99* 1.000 276 0% 159 22.6% 2 50% - - - NULL NDUFA5 4698 genome.wustl.edu 37 7 123196924 123196924 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000340034 -1 known p.Q200K 0.000 480 0% 273 21.2% 0 - unknown(0) - - NULL ASB15 142685 genome.wustl.edu 37 7 123269396 123269396 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080928.3 +1 validated p.H450Y 1.000 301 0% 144 30.6% 0 - probably_damaging(0.996) tolerated(0.95) neutral(0.462) superfamily_Ankyrin repeat LMOD2 442721 genome.wustl.edu 37 7 123302800 123302800 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207163.1 +1 validated p.S387Y 0.998 490 0% 380 30.8% 0 - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL LMOD2 442721 genome.wustl.edu 37 7 123303143 123303143 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207163.1 +1 validated p.R501 0.997 71 0% 52 23.1% 0 - - - - NULL HYAL4 23553 genome.wustl.edu 37 7 123514860 123514860 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012269.2 +1 reviewed p.A334T 1.000 105 0% 61 34.4% 0 - probably_damaging(0.989) deleterious(0.01) deleterious(0.845) HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat SPAM1 6677 genome.wustl.edu 37 7 123593931 123593931 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003117.4 +1 reviewed p.D103N 0.006 391 0% 284 29.2% 0 - possibly_damaging(0.737) tolerated(0.33) neutral(0.294) HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat SPAM1 6677 genome.wustl.edu 37 7 123594538 123594538 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003117.4 +1 reviewed p.R305H 1.000 189 0% 177 13.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat POT1 25913 genome.wustl.edu 37 7 124503651 124503651 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015450.2 -1 reviewed p.G100D 1.000 384 0% 275 24% 11 36.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Telo_bind,superfamily_Nucleic acid-binding proteins GRM8 2918 genome.wustl.edu 37 7 126883203 126883203 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000845.2 -1 reviewed p.A19V 1.000 171 0.6% 91 12.1% 0 - unknown(0) - - NULL ZNF800 168850 genome.wustl.edu 37 7 127014195 127014195 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000265827 -1 known p.N399D 1.000 553 0% 295 15.9% 12 16.6% benign(0.077) tolerated(0.39) neutral(0.021) NULL ZNF800 168850 genome.wustl.edu 37 7 127014814 127014814 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000265827 -1 known p.E192D 1.000 554 0% 306 12.7% 10 0% possibly_damaging(0.718) tolerated(0.52) neutral(0.269) NULL ZNF800 168850 genome.wustl.edu 37 7 127014844 127014844 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000265827 -1 known p.P182 0.986 569 0.2% 323 24.1% 20 70% - - - NULL SND1 27044 genome.wustl.edu 37 7 127528005 127528005 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014390.2 +1 validated p.Y465C 1.000 389 0% 288 27.4% 205 42.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNase,HMMSmart_SNc,superfamily_Staphylococal_nuclease_OB-fold SND1 27044 genome.wustl.edu 37 7 127727076 127727076 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014390.2 +1 validated p.A797 1.000 62 0% 30 33.3% 389 50.6% - - - HMMPfam_TUDOR,superfamily_Staphylococal_nuclease_OB-fold METTL2B 55798 genome.wustl.edu 37 7 128133901 128133901 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018396.2 +1 reviewed p.H238R 0.998 337 0% 187 31.6% 32 28.1% probably_damaging(0.976) tolerated(0.37) neutral(0.437) HMMPfam_Methyltransf_12,superfamily_S-adenosyl-L-methionine-dependent methyltransferases FAM71F1 84691 genome.wustl.edu 37 7 128355560 128355560 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032599.2 +1 validated p.R22I 1.000 209 0% 112 27.7% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL FAM71F1 84691 genome.wustl.edu 37 7 128355721 128355721 + Missense_Mutation SNP G G C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032599.2 +1 validated p.V76L 0.996 168 0% 67 32.8% 0 - benign(0.023) deleterious(0.02) neutral(0.384) NULL FAM71F1 84691 genome.wustl.edu 37 7 128356996 128356996 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032599.2 +1 validated p.G127R 1.000 137 0% 73 35.6% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL OPN1SW 611 genome.wustl.edu 37 7 128415565 128415565 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001708.2 -1 reviewed p.A94T 0.001 421 0% 245 26.9% 0 - benign(0.001) tolerated(0.48) neutral(0.011) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FLNC 2318 genome.wustl.edu 37 7 128494922 128494922 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001458.4 +1 reviewed p.R2364H 0.999 76 0% 28 32.1% 11 0% benign(0.353) tolerated(0.27) neutral(0.145) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin ATP6V1F 9296 genome.wustl.edu 37 7 128503038 128503038 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004231.2 +1 reviewed p.E27V 1.000 18 0% 13 30.8% 134 1.4% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_ATP-synt_F ATP6V1F 9296 genome.wustl.edu 37 7 128505430 128505430 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004231.2 +1 reviewed e2-1 1.000 37 0% 23 17.4% 1 100% - - - - TNPO3 23534 genome.wustl.edu 37 7 128630166 128630166 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000359305 -1 known p.P483 0.000 199 0% 139 25.9% 0 - - - - superfamily_ARM repeat SMO 6608 genome.wustl.edu 37 7 128845610 128845610 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005631.3 +1 provisional p.L303I 1.000 93 0% 46 21.7% 27 18.5% benign(0.382) tolerated(0.49) neutral(0.133) HMMPfam_Frizzled SMO 6608 genome.wustl.edu 37 7 128850207 128850207 + Nonsense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005631.3 +1 provisional p.C490* 1.000 184 0.5% 74 35.1% 28 10.7% - - - HMMPfam_Frizzled FAM40B 57464 genome.wustl.edu 37 7 129079865 129079865 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020704.2 +1 validated p.G44 1.000 108 0% 59 33.9% 0 - - - - HMMPfam_N1221 FAM40B 57464 genome.wustl.edu 37 7 129100159 129100159 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020704.2 +1 validated p.I474 1.000 87 0% 35 22.9% 0 - - - - NULL FAM40B 57464 genome.wustl.edu 37 7 129107283 129107283 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020704.2 +1 validated p.A623 1.000 117 0% 64 26.6% 1 100% - - - NULL FAM40B 57464 genome.wustl.edu 37 7 129125494 129125494 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020704.2 +1 validated p.R777C 1.000 170 1.8% 106 29.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NRF1 4899 genome.wustl.edu 37 7 129357135 129357135 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001040110.1 +1 reviewed p.A381V 1.000 130 0% 58 22.4% 19 57.8% benign(0.355) deleterious(0.04) neutral(0.461) NULL KLHDC10 23008 genome.wustl.edu 37 7 129736818 129736818 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014997.2 +1 validated p.I75T 1.000 192 0% 149 10.7% 2 50% benign(0) tolerated(0.86) neutral(0.001) superfamily_Galactose oxidase central domain KLHDC10 23008 genome.wustl.edu 37 7 129764376 129764376 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014997.2 +1 validated e6+1 1.000 228 0% 121 28.9% 0 - - - - - KLHDC10 23008 genome.wustl.edu 37 7 129767243 129767243 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014997.2 +1 validated e8-1 1.000 203 0% 146 24% 0 - - - - - CPA5 93979 genome.wustl.edu 37 7 129999525 129999525 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001127441.1 +1 validated p.E143D 0.995 19 0% 12 33.3% 0 - benign(0) tolerated(0.62) neutral(0.004) HMMSmart_SM00631,superfamily_Zn-dependent exopeptidases CPA1 1357 genome.wustl.edu 37 7 130021497 130021497 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001868.2 +1 reviewed p.H58 0.000 66 0% 35 17.1% 0 - - - - HMMPfam_Propep_M14,superfamily_Prot_inh_propept CEP41 95681 genome.wustl.edu 37 7 130044447 130044447 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018718.1 -1 provisional p.N127S 0.831 254 0% 143 29.4% 5 40% benign(0) tolerated(0.54) neutral(0.007) superfamily_Rhodanese/Cell cycle control phosphatase MEST 4232 genome.wustl.edu 37 7 130144807 130144807 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000437945 +1 known p.R285Q 0.996 250 0% 169 25.4% 153 40.5% unknown(0) - - NULL PODXL 5420 genome.wustl.edu 37 7 131191043 131191043 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001018111.2 -1 reviewed p.K429N 0.986 118 0% 66 27.3% 23 39.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_CD34_antigen PODXL 5420 genome.wustl.edu 37 7 131195587 131195587 + Missense_Mutation SNP G G A rs184433959 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005397.3 -1 reviewed p.P236S 0.131 65 0% 29 44.8% 23 21.7% probably_damaging(0.994) tolerated(1) neutral(0.452) NULL LOC647030 647030 genome.wustl.edu 37 7 131347197 131347197 + RNA SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XR_017470.3 -1 model NULL 0.906 382 0.3% 208 29.3% 5 0% - - - - PLXNA4 91584 genome.wustl.edu 37 7 131887519 131887519 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020911.1 -1 validated p.G824 1.000 29 0% 20 40% 0 - - - - HMMPfam_PSI,HMMSmart_SM00423 PLXNA4 91584 genome.wustl.edu 37 7 132169765 132169765 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181775.3 -1 validated p.G460D 0.000 358 0% 186 21% 0 - possibly_damaging(0.528) tolerated(0.07) deleterious(0.497) HMMSmart_Sema,superfamily_Sema PLXNA4 91584 genome.wustl.edu 37 7 132192342 132192342 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020911.1 -1 validated p.L371M 1.000 99 0% 40 22.5% 0 - benign(0.026) deleterious(0.01) neutral(0.407) HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain PLXNA4 91584 genome.wustl.edu 37 7 132192804 132192804 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020911.1 -1 validated p.V217I 1.000 207 0% 106 26.4% 0 - possibly_damaging(0.916) tolerated(0.23) neutral(0.408) HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain CHCHD3 54927 genome.wustl.edu 37 7 132481251 132481251 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017812.2 -1 provisional p.C204* 1.000 360 0% 255 31.4% 60 43.3% - - - HMMPfam_CHCH LRGUK 136332 genome.wustl.edu 37 7 133842866 133842866 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144648.1 +1 provisional p.T250M 0.005 139 0% 61 42.6% 2 50% benign(0.011) deleterious(0.02) neutral(0.384) HMMPfam_LRR_1,superfamily_SSF52058 LRGUK 136332 genome.wustl.edu 37 7 133863332 133863332 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144648.1 +1 provisional p.S395 0.694 353 0% 211 23.7% 2 50% - - - NULL LRGUK 136332 genome.wustl.edu 37 7 133948608 133948608 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144648.1 +1 provisional p.Q787* 0.000 271 0.4% 200 23.5% 2 0% - - - NULL WDR91 29062 genome.wustl.edu 37 7 134871854 134871854 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014149.3 -1 validated p.T650M 1.000 127 0% 81 24.7% 18 22.2% probably_damaging(1) deleterious(0.05) deleterious(0.845) superfamily_WD40 repeat-like WDR91 29062 genome.wustl.edu 37 7 134878103 134878103 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014149.3 -1 validated p.S513 0.701 78 0% 42 23.8% 15 40% - - - superfamily_WD40 repeat-like NUP205 23165 genome.wustl.edu 37 7 135298996 135298996 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015135.2 +1 validated p.L1095 1.000 154 0% 89 25.8% 14 35.7% - - - NULL NUP205 23165 genome.wustl.edu 37 7 135310092 135310092 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015135.2 +1 validated p.E1554K 1.000 318 0% 168 25.6% 46 43.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DGKI 9162 genome.wustl.edu 37 7 137330260 137330260 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004717.2 -1 reviewed p.V254 0.998 116 0% 79 21.5% 0 - - - - HMMPfam_C1_1,HMMSmart_C1 CREB3L2 64764 genome.wustl.edu 37 7 137567316 137567316 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_194071.2 -1 validated p.S443 0.086 143 0% 75 33.3% 10 20% - - - NULL KIAA1549 57670 genome.wustl.edu 37 7 138602290 138602290 + Silent SNP C C T rs146280134 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020910.2 -1 validated p.S644 0.002 262 0.4% 134 27.6% 13 46.1% - - - NULL UBN2 254048 genome.wustl.edu 37 7 138968318 138968318 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173569.3 +1 validated p.T806 1.000 455 0% 303 35% 10 50% - - - NULL UBN2 254048 genome.wustl.edu 37 7 138968337 138968337 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173569.3 +1 validated p.H813Y 0.999 443 0% 290 23.8% 16 50% possibly_damaging(0.925) tolerated(0.08) deleterious(0.673) NULL UBN2 254048 genome.wustl.edu 37 7 138968821 138968821 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173569.3 +1 validated p.P974H 0.999 458 0% 308 24.4% 13 38.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL HIPK2 28996 genome.wustl.edu 37 7 139297986 139297986 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000263551 -1 known p.A692T 1.000 114 0% 66 15.2% 3 0% benign(0.004) tolerated(0.18) neutral(0.056) NULL PARP12 64761 genome.wustl.edu 37 7 139754553 139754553 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000491598 -1 known p.T4I 0.095 327 0% 177 15.8% 18 22.2% - - - NULL JHDM1D 80853 genome.wustl.edu 37 7 139791617 139791617 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030647.1 -1 validated p.N906K 1.000 372 0.5% 186 27.4% 7 28.5% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL SLC37A3 84255 genome.wustl.edu 37 7 140035166 140035166 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032295.2 -1 validated p.P410L 0.000 493 0.2% 216 30.6% 42 35.7% benign(0.001) deleterious(0) neutral(0.445) NULL BRAF 673 genome.wustl.edu 37 7 140482853 140482853 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004333.4 -1 reviewed p.S428T 1.000 136 0% 101 23.8% 9 22.2% benign(0.001) tolerated(0.37) neutral(0.019) NULL BRAF 673 genome.wustl.edu 37 7 140508718 140508718 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004333.4 -1 reviewed p.C194* 1.000 226 0% 148 26.4% 10 10% - - - HMMPfam_RBD,HMMSmart_SM00455,superfamily_Ubiquitin-like BRAF 673 genome.wustl.edu 37 7 140549961 140549961 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004333.4 -1 reviewed p.L64I 1.000 767 0% 574 25.1% 1 0% benign(0.418) deleterious(0) deleterious(0.580) NULL WEE2 494551 genome.wustl.edu 37 7 141430108 141430108 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001105558.1 +1 validated p.E564D 0.000 258 0% 153 23.5% 0 - benign(0) tolerated(0.27) neutral(0.034) NULL WEE2 494551 genome.wustl.edu 37 7 141430118 141430118 + Nonstop_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001105558.1 +1 validated p.*568Q 0.002 256 0% 158 29.7% 0 - - - - NULL SSBP1 6742 genome.wustl.edu 37 7 141445296 141445296 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003143.1 +1 validated p.G105 1.000 298 0% 185 23.8% 266 48.8% - - - HMMPfam_SSB,superfamily_Nucleic acid-binding proteins TAS2R4 50832 genome.wustl.edu 37 7 141479039 141479039 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016944.1 +1 reviewed p.L251I 0.002 394 0% 199 12.1% 0 - possibly_damaging(0.432) tolerated(0.2) neutral(0.190) HMMPfam_TAS2R,superfamily_SSF81321 TAS2R5 54429 genome.wustl.edu 37 7 141490186 141490186 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018980.2 +1 reviewed p.L9 0.934 147 0% 93 26.9% 1 0% - - - HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like TAS2R5 54429 genome.wustl.edu 37 7 141490501 141490501 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018980.2 +1 reviewed p.A114T 0.000 290 0% 143 21.7% 3 0% benign(0.008) deleterious(0.03) neutral(0.364) HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like TAS2R38 5726 genome.wustl.edu 37 7 141673468 141673468 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_176817.4 -1 reviewed p.R8C 0.000 385 0% 218 27.5% 0 - benign(0.002) tolerated(0.21) neutral(0.044) NULL MGAM 8972 genome.wustl.edu 37 7 141727524 141727524 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004668.2 +1 reviewed p.Q404* 0.005 106 0% 69 18.8% 0 - - - - HMMPfam_Glyco_hydro_31 MGAM 8972 genome.wustl.edu 37 7 141736694 141736694 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004668.2 +1 reviewed p.R716 1.000 638 0.3% 561 29.8% 0 - - - - HMMPfam_Glyco_hydro_31 TRBV7-1 28597 genome.wustl.edu 37 7 142032463 142032463 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000390354 +1 known p.T95A 0.000 136 0% 65 16.9% 0 - probably_damaging(0.994) tolerated(0.12) deleterious(0.713) HMMPfam_V-set,superfamily_SSF48726 TRBV5-5 28610 genome.wustl.edu 37 7 142149146 142149146 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000390372 -1 known p.C42Y 0.007 634 0% 341 32% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_V-set,superfamily_Immunoglobulin TRBV5-3 28612 genome.wustl.edu 37 7 142242455 142242455 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000390362 -1 known p.A57T 0.000 221 0% 158 22.2% 0 - benign(0.003) tolerated(0.89) - HMMPfam_V-set,superfamily_SSF48726 TRBV20-1 28567 genome.wustl.edu 37 7 142334691 142334691 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000390394 +1 known p.R38H 0.001 197 0% 154 27.9% 2 0% probably_damaging(0.995) tolerated(0.4) deleterious(0.474) HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin TRBV24-1 28563 genome.wustl.edu 37 7 142364697 142364697 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000390397 +1 known p.A111V 0.939 406 0% 217 30% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_V-set,superfamily_SSF48726 TRBV28 28559 genome.wustl.edu 37 7 142428534 142428534 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000390400 +1 known p.F11V 0.749 40 0% 40 32.5% 1 0% benign(0.199) deleterious(0.04) neutral(0.368) NULL TRBV29-1 28558 genome.wustl.edu 37 7 142448571 142448571 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000422143 +1 known p.G55 0.074 214 0% 152 24.3% 2 0% - - - HMMPfam_V-set,superfamily_SSF48726 EPHB6 2051 genome.wustl.edu 37 7 142562166 142562166 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004445.3 +1 reviewed p.P203H 0.999 108 0% 32 37.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ephrin_lbd,HMMSmart_SM00615,superfamily_Galactose-binding domain-like EPHB6 2051 genome.wustl.edu 37 7 142568310 142568310 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004445.3 +1 reviewed p.V943 0.996 180 0% 75 26.7% 2 0% - - - NULL TRPV6 55503 genome.wustl.edu 37 7 142575033 142575033 + Splice_Site SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018646.2 -1 validated e4-1 1.000 179 0% 88 26.1% 0 - - - - - KEL 3792 genome.wustl.edu 37 7 142640125 142640125 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000420.2 -1 reviewed p.P593L 0.995 368 0% 196 32.7% 1 0% probably_damaging(0.999) tolerated(0.15) deleterious(0.732) "HMMPfam_Peptidase_M13,superfamily_Metalloproteases (""zincins"") catalytic domain" OR9A2 135924 genome.wustl.edu 37 7 142723990 142723990 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001658.1 -1 provisional p.V77A 0.003 417 0% 197 24.9% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR6V1 346517 genome.wustl.edu 37 7 142750215 142750215 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001667.1 +1 provisional p.P260T 0.009 337 0% 192 30.2% 0 - benign(0.047) tolerated(0.17) neutral(0.062) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR6V1 346517 genome.wustl.edu 37 7 142750304 142750304 + Silent SNP C C A rs4725609 TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001667.1 +1 provisional p.T289 0.000 218 0% 103 21.4% 0 - - - - superfamily_Family A G protein-coupled receptor-like GSTK1 373156 genome.wustl.edu 37 7 142962171 142962171 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001143679.1 +1 reviewed p.R124C 1.000 141 0% 62 33.9% 241 29.8% possibly_damaging(0.853) deleterious(0) deleterious(0.773) HMMPfam_DSBA,superfamily_Thiordxn-like_fd GSTK1 373156 genome.wustl.edu 37 7 142965913 142965913 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001143679.1 +1 reviewed p.V278M 0.000 133 0% 89 25.8% 299 33.1% possibly_damaging(0.502) tolerated(0.17) neutral(0.227) superfamily_Thiordxn-like_fd ZYX 7791 genome.wustl.edu 37 7 143080170 143080170 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001010972.1 +1 reviewed p.P260T 0.178 174 0.6% 82 23.2% 106 14.1% possibly_damaging(0.943) tolerated(0.07) deleterious(0.707) NULL EPHA1 2041 genome.wustl.edu 37 7 143090930 143090930 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005232.4 -1 reviewed p.R844W 1.000 79 0% 39 48.7% 9 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) EPHA1 2041 genome.wustl.edu 37 7 143092412 143092412 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005232.4 -1 reviewed p.R695* 0.993 835 0% 364 22.5% 5 0% - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) EPHA1 2041 genome.wustl.edu 37 7 143095454 143095454 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005232.4 -1 reviewed p.P475H 0.255 148 0% 56 21.4% 2 50% probably_damaging(0.993) deleterious(0.05) deleterious(0.795) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III FAM115C 285966 genome.wustl.edu 37 7 143417125 143417125 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130025.1 +1 validated p.P325S 0.040 117 0% 54 18.5% 0 - benign(0.154) tolerated(0.78) neutral(0.014) NULL OR2A12 346525 genome.wustl.edu 37 7 143792262 143792262 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004135.1 +1 provisional p.A21V 0.000 324 0% 210 32.4% 0 - benign(0.035) tolerated(0.22) neutral(0.044) superfamily_Family A G protein-coupled receptor-like OR2A12 346525 genome.wustl.edu 37 7 143792828 143792828 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004135.1 +1 provisional p.L210I 0.829 475 0% 309 23.3% 0 - benign(0.372) tolerated(0.14) neutral(0.368) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2A42 402317 genome.wustl.edu 37 7 143929691 143929691 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001802.1 -1 provisional p.A76 0.000 623 0% 329 17.9% 1 0% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2A42 402317 genome.wustl.edu 37 7 143929915 143929915 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001802.1 -1 provisional p.V2I 0.003 692 0% 429 6.5% 0 - benign(0.006) tolerated(0.3) neutral(0.029) superfamily_Family A G protein-coupled receptor-like ARHGEF5 7984 genome.wustl.edu 37 7 144069454 144069454 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005435.3 +1 reviewed p.R1303H 1.000 488 0% 258 9.7% 25 8% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) TPK1 27010 genome.wustl.edu 37 7 144364830 144364830 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000378099 -1 known p.I53 0.000 229 0% 173 27.2% 0 - unknown(0) - - superfamily_TPK_catalytic CNTNAP2 26047 genome.wustl.edu 37 7 146741083 146741083 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014141.5 +1 reviewed p.P163S 1.000 322 0% 212 26.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_F5_F8_type_C,HMMSmart_SM00231,PatternScan_FA58C_2,superfamily_Galactose-binding domain-like CNTNAP2 26047 genome.wustl.edu 37 7 146829412 146829412 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014141.5 +1 reviewed p.P387T 0.808 249 0% 150 30.7% 0 - benign(0.309) deleterious(0.02) deleterious(0.480) superfamily_Concanavalin A-like lectins/glucanases CNTNAP2 26047 genome.wustl.edu 37 7 147259310 147259310 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014141.5 +1 reviewed p.G620R 1.000 395 0% 254 25.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Fibrinogen C-terminal domain-like,superfamily_Concanavalin A-like lectins/glucanases CNTNAP2 26047 genome.wustl.edu 37 7 147844726 147844726 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014141.5 +1 reviewed p.R900W 1.000 128 0% 61 23% 0 - probably_damaging(0.953) deleterious(0.01) deleterious(0.802) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 EZH2 2146 genome.wustl.edu 37 7 148507450 148507450 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004456.3 -1 reviewed p.C668 1.000 197 0% 96 21.9% 19 26.3% - - - HMMPfam_SET,HMMSmart_SET,superfamily_SSF82199 ZNF425 155054 genome.wustl.edu 37 7 148802086 148802086 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001661.2 -1 validated p.L293M 0.756 57 0% 41 26.8% 3 66.6% benign(0.029) tolerated(0.26) neutral(0.036) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF777 27153 genome.wustl.edu 37 7 149152470 149152470 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015694.2 -1 validated p.T215I 1.000 119 0% 73 34.2% 29 44.8% possibly_damaging(0.9) deleterious(0) deleterious(0.801) NULL ATP6V0E2 155066 genome.wustl.edu 37 7 149572715 149572715 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001100592.1 +1 validated p.A94T 0.949 75 0% 32 15.6% 51 52.9% possibly_damaging(0.435) deleterious(0.01) deleterious(0.547) HMMPfam_ATP_synt_H GIMAP4 55303 genome.wustl.edu 37 7 150269563 150269563 + Splice_Site SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000466938 +1 known e3-1 0.000 405 0% 289 28.4% 15 0% - - - - GIMAP4 55303 genome.wustl.edu 37 7 150269637 150269637 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018326.2 +1 reviewed p.G160V 0.000 489 0% 349 31.8% 21 0% benign(0.017) tolerated(0.07) neutral(0.320) HMMPfam_AIG1,superfamily_SSF52540 GIMAP6 474344 genome.wustl.edu 37 7 150325473 150325473 + Splice_Site SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000477013 -1 known e2+2 0.004 370 0% 198 24.2% 2 0% - - - - GIMAP6 474344 genome.wustl.edu 37 7 150325594 150325594 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024711.4 -1 reviewed p.R31M 0.000 425 0% 218 22.5% 2 0% probably_damaging(0.965) tolerated(0.08) deleterious(0.707) superfamily_P-loop containing nucleoside triphosphate hydrolases CDK5 1020 genome.wustl.edu 37 7 150751365 150751365 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004935.3 -1 validated p.Y242 1.000 40 0% 17 35.3% 52 42.3% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase SLC4A2 6522 genome.wustl.edu 37 7 150761679 150761679 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003040.3 +1 validated p.R95H 1.000 26 0% 12 33.3% 42 50% probably_damaging(0.994) tolerated(0.24) deleterious(0.489) NULL SLC4A2 6522 genome.wustl.edu 37 7 150767339 150767339 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003040.3 +1 validated p.G452E 0.854 62 0% 29 27.6% 54 42.5% benign(0.344) tolerated(0.19) neutral(0.158) HMMPfam_Band_3_cyto,superfamily_Phoshotransferase/anion transport protein AGAP3 116988 genome.wustl.edu 37 7 150838996 150838996 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031946.4 +1 validated p.S606T 0.995 97 0% 37 32.4% 45 33.3% benign(0.051) tolerated(0.42) neutral(0.017) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ABCF2 10061 genome.wustl.edu 37 7 150918679 150918679 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005692.3 -1 reviewed p.K302N 1.000 493 0.2% 254 14.6% 61 14.7% possibly_damaging(0.897) deleterious(0.01) deleterious(0.760) HMMSmart_AAA,superfamily_SSF52540 ABCF2 10061 genome.wustl.edu 37 7 150921885 150921885 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005692.3 -1 reviewed p.G115D 1.000 122 0% 89 30.3% 45 51.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_tran,HMMSmart_AAA,superfamily_SSF52540 CHPF2 54480 genome.wustl.edu 37 7 150935182 150935182 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019015.1 +1 provisional p.D578 0.974 28 0% 12 33.3% 57 29.8% - - - HMMPfam_CHGN SMARCD3 6604 genome.wustl.edu 37 7 150936754 150936754 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001003801.1 -1 reviewed p.G418C 1.000 117 0% 35 20% 14 21.4% possibly_damaging(0.945) deleterious(0.01) deleterious(0.795) NULL RHEB 6009 genome.wustl.edu 37 7 151181890 151181890 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005614.3 -1 reviewed p.T42N 1.000 106 0% 54 22.2% 150 46.6% probably_damaging(0.97) deleterious(0.01) deleterious(0.818) HMMSmart_RAS,HMMPfam_Ras,superfamily_SSF52540 MLL3 58508 genome.wustl.edu 37 7 151842308 151842308 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_170606.2 -1 reviewed p.A4702T 1.000 327 0% 197 36.5% 27 44.4% unknown(0) - - NULL MLL3 58508 genome.wustl.edu 37 7 151949035 151949035 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_170606.2 -1 reviewed p.E537G 0.931 153 0% 108 20.4% 4 25% benign(0.073) - - NULL DPP6 1804 genome.wustl.edu 37 7 154593073 154593073 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000377770 +1 known p.E436 1.000 23 0% 18 38.9% 5 0% - - - HMMPfam_DPPIV_N,superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain DPP6 1804 genome.wustl.edu 37 7 154672634 154672634 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000377770 +1 known p.R705 0.863 117 0% 59 10.2% 7 0% - - - HMMPfam_Peptidase_S9,superfamily_alpha/beta-Hydrolases PAXIP1 22976 genome.wustl.edu 37 7 154768033 154768033 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007349.3 -1 reviewed p.Y149 0.985 310 0% 159 30.2% 9 44.4% - - - HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain EN2 2020 genome.wustl.edu 37 7 155255124 155255124 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001427.3 +1 reviewed p.R248 0.987 73 0% 26 34.6% 2 0% - - - HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like NOM1 64434 genome.wustl.edu 37 7 156746859 156746859 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138400.1 +1 provisional p.S392N 1.000 229 0% 131 29% 12 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MIF4G,HMMSmart_MIF4G,superfamily_ARM-type_fold UBE3C 9690 genome.wustl.edu 37 7 156974362 156974362 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014671.2 +1 validated p.A256V 1.000 241 0% 135 20% 31 35.4% benign(0.002) tolerated(0.7) neutral(0.002) NULL NCAPG2 54892 genome.wustl.edu 37 7 158468349 158468349 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017760.5 -1 validated e11-1 1.000 158 0% 92 12% 0 - - - - - ESYT2 57488 genome.wustl.edu 37 7 158531755 158531755 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020728.2 -1 validated p.S769R 1.000 58 0% 41 26.8% 44 27.2% probably_damaging(0.999) tolerated(0.12) deleterious(0.751) superfamily_C2_CaLB ESYT2 57488 genome.wustl.edu 37 7 158580723 158580723 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020728.2 -1 validated p.A288D 1.000 535 0% 333 25.8% 30 60% probably_damaging(1) deleterious(0) deleterious(0.945) NULL WDR60 55112 genome.wustl.edu 37 7 158719713 158719713 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018051.4 +1 validated p.A822T 0.947 59 1.7% 35 28.6% 12 16.6% possibly_damaging(0.879) tolerated(0.16) neutral(0.402) superfamily_WD40 repeat-like WDR60 55112 genome.wustl.edu 37 7 158734740 158734740 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018051.4 +1 validated p.A968V 0.983 79 0% 60 13.3% 7 57.1% possibly_damaging(0.879) deleterious(0.04) deleterious(0.692) HMMSmart_SM00320,superfamily_WD40 repeat-like C8orf42 157695 genome.wustl.edu 37 8 442495 442495 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175075.3 -1 validated p.N154 0.780 46 0% 17 29.4% 1 0% - - - NULL ERICH1 157697 genome.wustl.edu 37 8 623533 623533 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207332.1 -1 provisional p.D273 0.000 137 0.7% 61 34.4% 10 60% - - - NULL DLGAP2 9228 genome.wustl.edu 37 8 1574929 1574929 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004745.3 +1 reviewed p.S409I 0.928 18 0% 15 26.7% 0 - benign(0.196) tolerated(0.11) neutral(0.290) NULL ARHGEF10 9639 genome.wustl.edu 37 8 1842620 1842620 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014629.2 +1 reviewed p.T441M 0.964 61 0% 34 20.6% 4 0% benign(0.003) tolerated(0.17) neutral(0.059) HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain ARHGEF10 9639 genome.wustl.edu 37 8 1844558 1844558 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014629.2 +1 reviewed p.A500 0.018 188 0% 103 33% 6 33.3% - - - HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain ARHGEF10 9639 genome.wustl.edu 37 8 1853882 1853882 + Missense_Mutation SNP G G A rs184791801 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014629.2 +1 reviewed p.R656H 1.000 96 0% 61 42.6% 3 0% probably_damaging(0.969) deleterious(0.01) deleterious(0.817) superfamily_SSF50729 ARHGEF10 9639 genome.wustl.edu 37 8 1876648 1876648 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014629.2 +1 reviewed p.S918Y 1.000 355 0.6% 142 32.4% 8 37.5% possibly_damaging(0.893) deleterious(0.03) deleterious(0.716) NULL MYOM2 9172 genome.wustl.edu 37 8 2063802 2063802 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003970.2 +1 validated p.M1077I 1.000 252 0% 139 30.2% 0 - benign(0.069) tolerated(0.46) neutral(0.017) NULL MYOM2 9172 genome.wustl.edu 37 8 2071481 2071481 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003970.2 +1 validated p.G1207 0.903 657 0% 335 22.1% 0 - - - - superfamily_SSF48726 MYOM2 9172 genome.wustl.edu 37 8 2077194 2077194 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003970.2 +1 validated p.D1258 0.826 264 0.4% 155 22.6% 0 - - - - superfamily_SSF48726 MYOM2 9172 genome.wustl.edu 37 8 2088702 2088702 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003970.2 +1 validated p.A1286D 1.000 310 0.3% 122 23% 1 0% probably_damaging(0.996) tolerated(0.09) deleterious(0.758) superfamily_SSF48726 CSMD1 64478 genome.wustl.edu 37 8 2886930 2886930 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033225.5 -1 validated p.S2590N 0.899 125 0% 66 28.8% 0 - benign(0.001) tolerated(0.61) neutral(0.004) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD1 64478 genome.wustl.edu 37 8 3046492 3046492 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033225.5 -1 validated p.L1815M 0.186 104 0% 68 27.9% 0 - probably_damaging(0.976) deleterious(0.01) deleterious(0.824) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD1 64478 genome.wustl.edu 37 8 3224756 3224756 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033225.5 -1 validated p.I972 0.016 78 0% 52 13.5% 1 0% - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD1 64478 genome.wustl.edu 37 8 3351156 3351156 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033225.5 -1 validated p.S480 0.069 70 0% 47 27.7% 0 - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD1 64478 genome.wustl.edu 37 8 3889474 3889474 + Missense_Mutation SNP C C A rs36042022 TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033225.5 -1 validated p.S188I 0.998 104 0% 59 27.1% 0 - probably_damaging(0.991) tolerated(0.13) deleterious(0.697) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain MCPH1 79648 genome.wustl.edu 37 8 6302907 6302907 + Missense_Mutation SNP C C T rs188726432 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024596.3 +1 reviewed p.A555V 0.000 282 0% 166 19.3% 26 7.6% benign(0.002) tolerated(0.39) neutral(0.016) NULL AGPAT5 55326 genome.wustl.edu 37 8 6612617 6612617 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018361.3 +1 reviewed p.R264H 1.000 81 0% 61 26.2% 44 40.9% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SSF69593 FAM90A20P 728430 genome.wustl.edu 37 8 7155242 7155242 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000360191 +1 known p.P364L 0.001 24 4.2% 11 36.4% 0 - - - - NULL ENSG00000164845 0 genome.wustl.edu 37 8 8093785 8093785 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000338711 +1 known p.R235C 0.278 27 0% 10 60% 0 - - - - HMMPfam_Methyltransf_16,superfamily_SSF53335 SGK223 157285 genome.wustl.edu 37 8 8185481 8185481 + Silent SNP G G A rs142121457 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080826.1 -1 validated p.H937 1.000 96 0% 45 35.6% 5 80% - - - NULL PPP1R3B 79660 genome.wustl.edu 37 8 8998502 8998502 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024607.2 -1 validated p.T220 0.000 184 0% 92 32.6% 7 42.8% - - - HMMPfam_CBM_21 TNKS 8658 genome.wustl.edu 37 8 9627686 9627686 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003747.2 +1 validated p.A1271T 1.000 18 0% 16 50% 23 34.7% possibly_damaging(0.536) deleterious(0) deleterious(0.625) HMMPfam_PARP,superfamily_ADP-ribosylation PRSS55 203074 genome.wustl.edu 37 8 10387101 10387101 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198464.2 +1 validated p.P80L 0.989 495 0% 229 25.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases RP1L1 94137 genome.wustl.edu 37 8 10464422 10464422 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178857.5 -1 validated p.D2396Y 0.714 575 0% 294 10.9% 0 - unknown(0) deleterious(0) - NULL RP1L1 94137 genome.wustl.edu 37 8 10466500 10466500 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178857.5 -1 validated p.G1703E 0.000 182 0% 88 28.4% 1 0% unknown(0) tolerated(0.31) - NULL RP1L1 94137 genome.wustl.edu 37 8 10474035 10474035 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178857.5 -1 validated p.A224 0.999 66 0% 29 24.1% 0 - - - - HMMPfam_DCX,superfamily_SSF89837 PINX1 54984 genome.wustl.edu 37 8 10623136 10623136 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017884.4 -1 provisional p.S254 0.000 146 0% 72 26.4% 16 50% - - - NULL PINX1 54984 genome.wustl.edu 37 8 10690468 10690468 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017884.4 -1 provisional p.A52 1.000 71 0% 30 33.3% 18 55.5% - - - HMMPfam_G-patch,HMMSmart_SM00443 XKR6 286046 genome.wustl.edu 37 8 10755858 10755858 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000382461 -1 known p.A287V 1.000 152 0% 86 36% 0 - - - - NULL MTMR9 66036 genome.wustl.edu 37 8 11157611 11157611 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015458.3 +1 reviewed p.W124* 1.000 482 0% 358 27.4% 3 33.3% - - - superfamily_SSF52799 BLK 640 genome.wustl.edu 37 8 11414312 11414312 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001715.2 +1 validated p.E306D 1.000 89 0% 34 11.8% 0 - possibly_damaging(0.495) deleterious(0.02) deleterious(0.548) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) USP17L7 392197 genome.wustl.edu 37 8 11990137 11990137 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000416902 -1 known p.P461L 0.191 156 0.6% 98 33.7% 0 - - - - NULL USP17L7 392197 genome.wustl.edu 37 8 11990849 11990849 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000416902 -1 known p.A224T 0.867 162 0% 97 30.9% 0 - - - - HMMPfam_UCH,superfamily_SSF54001 FAM86B2 653333 genome.wustl.edu 37 8 12291578 12291578 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001137610.1 -1 predicted p.R48W 0.960 183 0% 113 22.1% 4 0% benign(0.008) tolerated(0.07) neutral(0.319) NULL LONRF1 91694 genome.wustl.edu 37 8 12600704 12600704 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000284538 -1 known p.Q2* 1.000 187 0% 129 12.4% 5 0% benign(0.406) tolerated(0.58) neutral(0.136) NULL DLC1 10395 genome.wustl.edu 37 8 12957897 12957897 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182643.2 -1 reviewed p.S650N 1.000 195 0% 109 21.1% 1 0% benign(0.001) tolerated(0.35) neutral(0.021) NULL SGCZ 137868 genome.wustl.edu 37 8 14095176 14095176 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_139167.2 -1 reviewed p.V117I 1.000 1425 0.1% 990 29.1% 0 - benign(0) tolerated(0.4) neutral(0.016) HMMPfam_Sarcoglycan_1 MSR1 4481 genome.wustl.edu 37 8 15977963 15977963 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138715.2 -1 reviewed p.V396I 0.008 164 0% 99 13.1% 0 - possibly_damaging(0.791) deleterious(0.03) deleterious(0.661) HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like CNOT7 29883 genome.wustl.edu 37 8 17100639 17100639 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013354.5 -1 reviewed p.A58V 1.000 338 0.6% 199 22.6% 96 37.5% benign(0.02) tolerated(0.32) neutral(0.025) HMMPfam_CAF1,superfamily_Ribonuclease H-like VPS37A 137492 genome.wustl.edu 37 8 17132280 17132280 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152415.2 +1 validated p.S152Y 1.000 241 0% 117 27.4% 60 38.3% benign(0.077) tolerated(0.11) neutral(0.277) NULL SLC7A2 6542 genome.wustl.edu 37 8 17400912 17400912 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003046.5 +1 validated p.L62M 0.002 98 0% 58 24.1% 10 30% benign(0.002) tolerated(0.25) neutral(0.037) NULL PSD3 23362 genome.wustl.edu 37 8 18725215 18725215 + Nonsense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015310.3 -1 validated p.K535* 0.140 395 0% 262 13.7% 1 0% - - - NULL PSD3 23362 genome.wustl.edu 37 8 18725389 18725389 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015310.3 -1 validated p.P477S 1.000 531 0% 349 25.5% 2 0% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL CSGALNACT1 55790 genome.wustl.edu 37 8 19263451 19263451 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130518.1 -1 validated p.R480H 0.998 287 0% 145 12.4% 7 0% benign(0.003) tolerated(0.54) neutral(0.007) HMMPfam_CHGN,superfamily_SSF53448 SLC18A1 6570 genome.wustl.edu 37 8 20008215 20008215 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001135691.2 -1 validated p.G352 1.000 322 0% 199 29.1% 0 - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter SLC18A1 6570 genome.wustl.edu 37 8 20036652 20036652 + Silent SNP G G A rs184315082 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001135691.2 -1 validated p.F156 0.007 156 0% 73 19.2% 0 - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter ATP6V1B2 526 genome.wustl.edu 37 8 20068762 20068762 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001693.3 +1 reviewed p.M180V 1.000 281 0% 207 24.6% 45 37.7% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_ATP-synt_ab,superfamily_P-loop containing nucleoside triphosphate hydrolases LZTS1 11178 genome.wustl.edu 37 8 20107709 20107709 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021020.2 -1 reviewed p.A439T 0.749 114 0% 46 10.9% 1 0% benign(0.001) tolerated(0.87) neutral(0.001) HMMPfam_Fez1 FAM160B2 64760 genome.wustl.edu 37 8 21951960 21951960 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022749.5 +1 validated p.S19G 1.000 28 0% 17 47.1% 3 66.6% possibly_damaging(0.762) tolerated(0.06) deleterious(0.605) NULL FAM160B2 64760 genome.wustl.edu 37 8 21955297 21955297 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022749.5 +1 validated p.V158I 0.985 41 0% 16 25% 11 90.9% benign(0.001) tolerated(0.56) neutral(0.006) HMMPfam_RAI16-like FAM160B2 64760 genome.wustl.edu 37 8 21958174 21958174 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022749.5 +1 validated p.L471M 1.000 78 1.3% 38 28.9% 25 32% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_RAI16-like FAM160B2 64760 genome.wustl.edu 37 8 21958387 21958387 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022749.5 +1 validated p.S507I 1.000 118 0% 56 23.2% 28 53.5% benign(0) tolerated(0.46) neutral(0.012) NULL BMP1 649 genome.wustl.edu 37 8 22052077 22052077 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006129.4 +1 reviewed p.V473M 1.000 177 0% 111 37.8% 12 50% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain BMP1 649 genome.wustl.edu 37 8 22054310 22054310 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006129.4 +1 reviewed p.R628H 1.000 75 0% 41 14.6% 18 0% possibly_damaging(0.496) tolerated(0.18) neutral(0.222) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain PIWIL2 55124 genome.wustl.edu 37 8 22161635 22161635 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001135721.1 +1 validated p.R428H 1.000 381 0% 191 37.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PAZ,superfamily_PAZ domain SORBS3 10174 genome.wustl.edu 37 8 22429892 22429892 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005775.4 +1 validated p.D629 0.897 42 0% 14 35.7% 26 15.3% unknown(0) - - HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain KIAA1967 57805 genome.wustl.edu 37 8 22473683 22473683 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021174.4 +1 validated p.A589 0.000 49 0% 21 33.3% 63 42.8% - - - NULL RHOBTB2 23221 genome.wustl.edu 37 8 22862016 22862016 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015178.2 +1 validated p.N23 1.000 82 0% 56 46.4% 4 75% - - - HMMSmart_RHO,superfamily_SSF52540 RHOBTB2 23221 genome.wustl.edu 37 8 22864603 22864603 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015178.2 +1 validated p.K282T 1.000 190 0% 67 29.9% 2 50% benign(0.362) deleterious(0.01) deleterious(0.521) HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB RHOBTB2 23221 genome.wustl.edu 37 8 22865171 22865171 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015178.2 +1 validated p.E471D 1.000 227 0% 97 36.1% 5 20% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB LOXL2 4017 genome.wustl.edu 37 8 23225567 23225567 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002318.2 -1 reviewed p.L100M 1.000 53 0% 38 28.9% 8 0% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_SRCR,HMMSmart_SR,superfamily_Srcr_receptor ADAM28 10863 genome.wustl.edu 37 8 24167700 24167700 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014265.4 +1 reviewed p.T84 0.018 241 0% 162 29.6% 47 44.6% - - - HMMPfam_Pep_M12B_propep ADAM28 10863 genome.wustl.edu 37 8 24168892 24168892 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014265.4 +1 reviewed p.G109* 1.000 200 0% 166 10.2% 36 2.7% - - - HMMPfam_Pep_M12B_propep ADAM7 8756 genome.wustl.edu 37 8 24324535 24324535 + Frame_Shift_Del DEL A A - novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000441335 +1 known p.K205fs 0.009 - - - - - - - - - NULL ADAM7 8756 genome.wustl.edu 37 8 24346745 24346745 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000380789 +1 known p.C389R 0.959 149 0% 109 24.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" DOCK5 80005 genome.wustl.edu 37 8 25203082 25203082 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000444569 +1 known p.A675T 0.082 459 0% 232 34.1% 19 26.3% - - - NULL DOCK5 80005 genome.wustl.edu 37 8 25224475 25224475 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024940.6 +1 validated p.K1071N 1.000 125 0% 88 34.1% 35 51.4% probably_damaging(1) tolerated(0.14) deleterious(0.750) NULL KCTD9 54793 genome.wustl.edu 37 8 25296809 25296809 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017634.2 -1 validated p.G162D 1.000 122 0% 86 25.6% 5 20% possibly_damaging(0.731) tolerated(0.43) neutral(0.281) HMMSmart_BTB,HMMPfam_K_tetra,superfamily_BTB/POZ_fold CDCA2 157313 genome.wustl.edu 37 8 25364888 25364888 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152562.2 +1 validated p.N902 0.000 717 0.3% 516 33.9% 15 46.6% - - - NULL EBF2 64641 genome.wustl.edu 37 8 25718642 25718642 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022659.2 -1 validated p.S422N 1.000 257 0% 132 25.8% 0 - benign(0.001) tolerated(0.41) neutral(0.015) NULL EBF2 64641 genome.wustl.edu 37 8 25902322 25902322 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022659.2 -1 validated p.S18 0.956 218 0.5% 116 31.9% 0 - - - - NULL PPP2R2A 5520 genome.wustl.edu 37 8 26220317 26220317 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002717.3 +1 reviewed p.R252Q 1.000 110 0% 76 17.1% 64 37.5% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMSmart_SM00320,superfamily_WD40 repeat-like DPYSL2 1808 genome.wustl.edu 37 8 26501002 26501002 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001386.4 +1 validated p.G287S 1.000 249 0% 170 31.8% 11 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Amidohydro_1,superfamily_Composite domain of metallo-dependent hydrolases,superfamily_Metallo-dependent hydrolases TRIM35 23087 genome.wustl.edu 37 8 27156001 27156001 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_171982.3 -1 validated p.A171T 1.000 173 0% 113 29.2% 6 50% benign(0.013) tolerated(0.15) neutral(0.241) NULL PTK2B 2185 genome.wustl.edu 37 8 27288924 27288924 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004103.3 +1 reviewed p.N274D 1.000 97 0% 57 28.1% 4 0% possibly_damaging(0.701) tolerated(0.06) deleterious(0.575) NULL CLU 1191 genome.wustl.edu 37 8 27463925 27463925 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001831.2 -1 reviewed p.C173 1.000 180 0% 116 30.2% 560 16.6% - - - HMMPfam_Clusterin,PatternScan_CLUSTERIN_1,HMMSmart_CLb C8orf80 389643 genome.wustl.edu 37 8 27888881 27888881 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001010906.1 -1 provisional p.G596D 0.000 307 0% 162 32.7% 0 - benign(0) tolerated(0.82) neutral(0.001) NULL ELP3 55140 genome.wustl.edu 37 8 28017928 28017928 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018091.5 +1 validated p.S480 1.000 107 0% 77 44.2% 156 42.3% - - - HMMPfam_Acetyltransf_1,superfamily_Acyl-CoA N-acyltransferases (Nat) ZNF395 55893 genome.wustl.edu 37 8 28217136 28217136 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018660.2 -1 validated p.V149A 0.997 82 0% 37 35.1% 9 100% possibly_damaging(0.792) tolerated(0.07) deleterious(0.616) NULL ZNF395 55893 genome.wustl.edu 37 8 28217229 28217229 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018660.2 -1 validated p.R118M 0.043 89 1.1% 34 23.5% 12 100% possibly_damaging(0.855) deleterious(0) deleterious(0.774) NULL FZD3 7976 genome.wustl.edu 37 8 28385274 28385274 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017412.2 +1 reviewed p.A333T 1.000 480 0% 357 34.2% 16 56.2% benign(0.001) deleterious(0.03) neutral(0.364) HMMPfam_Frizzled EXTL3 2137 genome.wustl.edu 37 8 28588739 28588739 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001440.2 +1 provisional e2-1 1.000 647 0.3% 363 29.2% 0 - - - - - HMBOX1 79618 genome.wustl.edu 37 8 28876343 28876343 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001135726.1 +1 validated p.P255L 1.000 231 0.4% 157 29.9% 5 60% possibly_damaging(0.671) tolerated(0.21) neutral(0.282) NULL TMEM66 51669 genome.wustl.edu 37 8 29924354 29924354 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016127.4 -1 provisional p.P261T 0.998 433 0% 292 14% 321 16.1% probably_damaging(0.991) tolerated(0.24) deleterious(0.481) HMMPfam_DUF1183 GSR 2936 genome.wustl.edu 37 8 30541674 30541674 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000637.2 -1 validated p.F362I 1.000 441 0% 314 27.4% 182 47.8% possibly_damaging(0.838) deleterious(0) deleterious(0.764) HMMPfam_Pyr_redox_2,superfamily_FAD/NAD(P)-binding domain GSR 2936 genome.wustl.edu 37 8 30553989 30553989 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000637.2 -1 validated p.V235I 1.000 264 0% 188 26.1% 195 40.5% benign(0.07) deleterious(0.05) neutral(0.350) HMMPfam_Pyr_redox_2,superfamily_FAD/NAD(P)-binding domain PPP2CB 5516 genome.wustl.edu 37 8 30655267 30655267 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001009552.1 -1 reviewed p.R106C 1.000 62 0% 44 36.4% 139 46.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Metallophos,HMMSmart_SM00156,superfamily_Metallo-dependent phosphatases TEX15 56154 genome.wustl.edu 37 8 30700676 30700676 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031271.3 -1 validated p.T1953N 0.002 273 0% 169 27.2% 0 - possibly_damaging(0.727) tolerated(0.05) deleterious(0.610) NULL TEX15 56154 genome.wustl.edu 37 8 30701484 30701484 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031271.3 -1 validated p.P1684T 0.750 276 0% 151 22.5% 0 - probably_damaging(0.998) tolerated(0.06) deleterious(0.797) NULL TEX15 56154 genome.wustl.edu 37 8 30701747 30701747 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031271.3 -1 validated p.S1596L 0.000 268 0.4% 170 26.5% 0 - benign(0.281) deleterious(0) deleterious(0.530) NULL WRN 7486 genome.wustl.edu 37 8 30922535 30922535 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000553.4 +1 reviewed p.K154E 0.994 298 0% 192 32.3% 4 25% possibly_damaging(0.554) deleterious(0) deleterious(0.633) HMMPfam_3_5_exonuc,HMMSmart_SM00474,superfamily_Ribonuclease H-like WRN 7486 genome.wustl.edu 37 8 30974022 30974022 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000553.4 +1 reviewed p.R809M 0.526 214 0% 141 28.4% 5 60% benign(0.018) deleterious(0.03) neutral(0.365) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases NRG1 3084 genome.wustl.edu 37 8 32463094 32463094 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013956.3 +1 reviewed p.R98H 1.000 432 0% 384 24.2% 0 - benign(0.033) tolerated(0.27) neutral(0.035) HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 NRG1 3084 genome.wustl.edu 37 8 32474395 32474395 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013956.3 +1 reviewed p.T165N 1.000 144 0% 117 20.5% 0 - probably_damaging(0.967) tolerated(0.06) deleterious(0.732) NULL NRG1 3084 genome.wustl.edu 37 8 32505285 32505285 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013959.3 +1 reviewed p.S17P 1.000 103 0% 59 27.1% 0 - benign(0) deleterious(0.01) neutral(0.406) NULL NRG1 3084 genome.wustl.edu 37 8 32585547 32585547 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013956.3 +1 reviewed p.E195K 1.000 284 0% 194 27.8% 0 - benign(0.308) tolerated(0.2) neutral(0.145) HMMPfam_EGF,HMMSmart_EGF,superfamily_SSF57196 FUT10 84750 genome.wustl.edu 37 8 33247268 33247268 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032664.3 -1 validated p.H142R 1.000 260 0% 135 28.9% 9 44.4% probably_damaging(0.996) deleterious(0.04) deleterious(0.810) HMMPfam_Glyco_transf_10 RNF122 79845 genome.wustl.edu 37 8 33407002 33407002 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024787.2 -1 reviewed p.C93 0.860 80 0% 47 29.8% 32 62.5% - - - HMMSmart_RING,HMMPfam_zf-C3HC4,superfamily_SSF57850 BRF2 55290 genome.wustl.edu 37 8 37704630 37704630 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018310.2 -1 reviewed p.A93V 0.978 162 0% 84 32.1% 28 21.4% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMSmart_CYCLIN,superfamily_Cyclin_like RAB11FIP1 80223 genome.wustl.edu 37 8 37732418 37732418 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001002814.2 -1 validated p.A413T 0.000 209 0.5% 91 20.9% 7 42.8% benign(0.005) tolerated(0.48) neutral(0.011) NULL ASH2L 9070 genome.wustl.edu 37 8 37964580 37964580 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004674.3 +1 validated p.A99 0.037 95 0% 54 25.9% 18 38.8% - - - NULL DDHD2 23259 genome.wustl.edu 37 8 38110330 38110330 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015214.2 +1 validated p.R570W 1.000 140 0% 66 19.7% 29 48.2% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_DDHD DDHD2 23259 genome.wustl.edu 37 8 38110489 38110489 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015214.2 +1 validated p.L579V 0.996 185 0% 116 25% 25 68% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMPfam_DDHD WHSC1L1 54904 genome.wustl.edu 37 8 38162250 38162250 + Nonsense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_023034.1 -1 reviewed p.C822* 0.993 293 0% 185 32.4% 9 22.2% - - - HMMSmart_SM00249 WHSC1L1 54904 genome.wustl.edu 37 8 38194895 38194895 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_023034.1 -1 reviewed p.T280P 1.000 181 0% 121 27.3% 21 28.5% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) HMMPfam_PWWP,HMMSmart_SM00293,superfamily_Tudor/PWWP/MBT LETM2 137994 genome.wustl.edu 37 8 38250201 38250201 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144652.1 +1 provisional p.G16 0.202 130 0% 86 29.1% 0 - - - - NULL FGFR1 2260 genome.wustl.edu 37 8 38285606 38285606 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_023110.2 -1 reviewed p.A152T 0.998 121 0% 58 25.9% 69 42% possibly_damaging(0.585) tolerated(0.12) neutral(0.462) superfamily_Immunoglobulin TACC1 6867 genome.wustl.edu 37 8 38677361 38677361 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006283.2 +1 reviewed p.S200N 0.000 166 0% 86 32.6% 0 - benign(0) tolerated(0.05) neutral(0.345) NULL ADAM9 8754 genome.wustl.edu 37 8 38940234 38940234 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003816.2 +1 reviewed p.G652 0.998 252 0% 163 20.2% 153 23.5% - - - HMMPfam_EGF_2 ADAM18 8749 genome.wustl.edu 37 8 39495176 39495176 + Missense_Mutation SNP C C T rs141094631 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014237.1 +1 reviewed p.R261W 0.010 364 0% 271 30.3% 0 - possibly_damaging(0.95) deleterious(0.02) deleterious(0.776) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ADAM2 2515 genome.wustl.edu 37 8 39607254 39607254 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001464.3 -1 reviewed p.N603D 0.000 138 0% 87 40.2% 1 0% benign(0.002) tolerated(0.79) neutral(0.001) HMMSmart_SM00608 AGPAT6 137964 genome.wustl.edu 37 8 41469726 41469726 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178819.3 +1 validated p.I243 1.000 213 0% 122 32% 45 51.1% - - - HMMPfam_Acyltransferase,HMMSmart_SM00563 PLAT 5327 genome.wustl.edu 37 8 42036494 42036494 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000930.3 -1 reviewed p.R484I 0.001 105 1% 57 29.8% 7 0% benign(0.064) tolerated(0.08) neutral(0.304) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases POLB 5423 genome.wustl.edu 37 8 42206594 42206594 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002690.1 +1 provisional p.R83C 1.000 133 0% 72 25% 27 59.2% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMSmart_POLXc,superfamily_DNApol_B_N_like SLC20A2 6575 genome.wustl.edu 37 8 42302227 42302227 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006749.3 -1 provisional p.A223T 0.779 70 0% 46 28.3% 19 36.8% benign(0.186) deleterious(0.01) neutral(0.423) HMMPfam_PHO4 THAP1 55145 genome.wustl.edu 37 8 42693242 42693242 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018105.2 -1 reviewed p.R169* 1.000 156 0% 78 17.9% 32 34.3% - - - NULL THAP1 55145 genome.wustl.edu 37 8 42694369 42694369 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018105.2 -1 reviewed p.A76D 1.000 185 0% 111 11.7% 30 13.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_THAP,HMMSmart_SM00692 HOOK3 84376 genome.wustl.edu 37 8 42805559 42805559 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032410.3 +1 validated p.E143D 0.995 397 0% 276 22.8% 3 0% probably_damaging(0.96) deleterious(0.01) deleterious(0.808) HMMPfam_HOOK LOC100287980 100287980 genome.wustl.edu 37 8 48001224 48001224 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002342844.1 -1 model p.A232V 0.004 28 0% 20 30% 0 - - - - NULL ENSG00000215177 0 genome.wustl.edu 37 8 48114299 48114299 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000399730 -1 known p.T40 0.997 177 0.6% 109 33% 0 - - - - HMMPfam_V-set,superfamily_SSF48726 PRKDC 5591 genome.wustl.edu 37 8 48690334 48690334 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001081640.1 -1 validated p.Y3954C 0.962 132 0% 73 28.8% 116 13.7% - - - NULL PRKDC 5591 genome.wustl.edu 37 8 48691038 48691038 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001081640.1 -1 validated p.R3914H 0.000 50 0% 24 25% 103 11.6% - - - NULL PRKDC 5591 genome.wustl.edu 37 8 48713466 48713466 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001081640.1 -1 validated p.G3335* 0.001 105 0% 65 10.8% 39 56.4% possibly_damaging(0.502) tolerated(0.1) neutral(0.454) NULL PRKDC 5591 genome.wustl.edu 37 8 48744484 48744484 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000314191 -1 known p.A2718V 0.000 237 0% 105 29.5% 26 11.5% benign(0.002) tolerated(0.29) neutral(0.029) superfamily_ARM repeat PRKDC 5591 genome.wustl.edu 37 8 48843269 48843269 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000314191 -1 known p.D619Y 1.000 35 0% 21 33.3% 7 14.2% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat MCM4 4173 genome.wustl.edu 37 8 48882425 48882425 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005914.2 +1 reviewed p.T414 1.000 257 0% 146 17.8% 68 33.8% - - - HMMSmart_MCM,superfamily_Nucleic_acid_OB RB1CC1 9821 genome.wustl.edu 37 8 53589055 53589055 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014781.4 -1 reviewed p.G149D 1.000 160 0% 104 24% 16 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL OPRK1 4986 genome.wustl.edu 37 8 54142051 54142051 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000912.3 -1 validated p.A317T 1.000 76 1.3% 49 32.7% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_7tm_1,superfamily_SSF81321 OPRK1 4986 genome.wustl.edu 37 8 54147343 54147343 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000912.3 -1 validated p.L196I 1.000 183 0% 93 41.9% 2 50% probably_damaging(0.982) tolerated(0.07) deleterious(0.746) HMMPfam_7tm_1,superfamily_SSF81321 MRPL15 29088 genome.wustl.edu 37 8 55060154 55060154 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014175.3 +1 reviewed p.L256F 1.000 205 0% 103 35.9% 158 43% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL LYN 4067 genome.wustl.edu 37 8 56860208 56860208 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002350.2 +1 validated p.A70 0.983 234 0% 143 11.9% 21 14.2% - - - HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain MOS 4342 genome.wustl.edu 37 8 57025909 57025909 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005372.1 -1 validated p.E211D 0.046 65 0% 37 10.8% 0 - probably_damaging(0.979) deleterious(0.01) deleterious(0.828) superfamily_Kinase_like,HMMPfam_Pkinase MOS 4342 genome.wustl.edu 37 8 57026185 57026185 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005372.1 -1 validated p.R119 0.803 42 0% 19 63.2% 0 - - - - superfamily_Kinase_like,HMMPfam_Pkinase SDR16C5 195814 genome.wustl.edu 37 8 57228616 57228616 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138969.2 -1 validated p.C97 0.972 350 0% 189 29.6% 0 - - - - HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains PENK 5179 genome.wustl.edu 37 8 57354491 57354491 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001135690.1 -1 validated p.C48 1.000 168 0.6% 76 25% 2 0% - - - HMMPfam_Opiods_neuropep,PatternScan_OPIOIDS_PRECURSOR FAM110B 90362 genome.wustl.edu 37 8 59059110 59059110 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_147189.2 +1 validated p.T107 0.878 46 0% 20 25% 4 100% - - - NULL SDCBP 6386 genome.wustl.edu 37 8 59492280 59492280 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001007067.1 +1 reviewed p.S226Y 1.000 376 0% 221 30.8% 266 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like CHD7 55636 genome.wustl.edu 37 8 61763075 61763075 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017780.2 +1 reviewed p.R1810* 1.000 44 0% 20 35% 2 100% - - - NULL CHD7 55636 genome.wustl.edu 37 8 61768742 61768742 + Missense_Mutation SNP C C T rs189926848 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017780.2 +1 reviewed p.T2382M 0.472 42 0% 31 32.3% 3 33.3% benign(0) tolerated(0.17) neutral(0.059) NULL CHD7 55636 genome.wustl.edu 37 8 61769037 61769037 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017780.2 +1 reviewed p.R2400W 1.000 81 0% 42 26.2% 5 40% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL CHD7 55636 genome.wustl.edu 37 8 61778125 61778125 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017780.2 +1 reviewed p.A2876D 1.000 216 0% 100 33% 22 27.2% probably_damaging(0.998) tolerated(0.25) deleterious(0.511) NULL LOC100289411 100289411 genome.wustl.edu 37 8 62430159 62430159 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002342846.1 +1 model p.Q57* 1.000 205 0% 131 30.5% 33 42.4% probably_damaging(1) tolerated(0.25) deleterious(0.537) NULL CYP7B1 9420 genome.wustl.edu 37 8 65528248 65528248 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004820.3 -1 reviewed p.A284S 1.000 484 0% 370 22.2% 0 - probably_damaging(0.987) tolerated(0.2) deleterious(0.485) HMMPfam_p450,superfamily_Cytochrome P450 ARMC1 55156 genome.wustl.edu 37 8 66525585 66525585 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018120.4 -1 validated p.S120N 1.000 231 0% 147 27.9% 20 30% benign(0) tolerated(0.31) neutral(0.027) NULL C8orf46 254778 genome.wustl.edu 37 8 67425830 67425830 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152765.3 +1 validated p.A133V 0.001 190 0% 125 42.4% 0 - benign(0) tolerated(0.4) neutral(0.016) NULL VCPIP1 80124 genome.wustl.edu 37 8 67577312 67577312 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025054.4 -1 validated p.K628E 1.000 353 0% 241 27.4% 8 50% benign(0.051) tolerated(0.35) neutral(0.024) NULL VCPIP1 80124 genome.wustl.edu 37 8 67577454 67577454 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025054.4 -1 validated p.W580C 1.000 333 0% 198 22.7% 9 88.8% possibly_damaging(0.649) deleterious(0) deleterious(0.672) NULL SGK3 23678 genome.wustl.edu 37 8 67752468 67752468 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001033578.1 +1 reviewed p.L293I 1.000 238 0% 152 27% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase C8orf45 157777 genome.wustl.edu 37 8 67786400 67786400 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173518.4 +1 validated p.A9T 1.000 225 0% 113 29.2% 1 100% probably_damaging(0.965) tolerated(0.13) deleterious(0.659) NULL CSPP1 79848 genome.wustl.edu 37 8 68007627 68007627 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001077204.1 +1 validated p.D239Y 0.866 239 0% 161 31.1% 5 100% probably_damaging(0.955) tolerated(0.06) deleterious(0.721) NULL ARFGEF1 10565 genome.wustl.edu 37 8 68111234 68111234 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006421.3 -1 reviewed p.R1829* 1.000 322 0.6% 186 28% 34 32.3% - - - NULL PREX2 80243 genome.wustl.edu 37 8 69032449 69032449 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024870.2 +1 validated p.L1175I 1.000 298 0% 155 30.3% 5 40% benign(0.3) deleterious(0.01) deleterious(0.499) NULL C8orf34 116328 genome.wustl.edu 37 8 69434087 69434087 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052958.1 +1 predicted p.W162C 1.000 272 0% 171 25.1% 7 28.5% probably_damaging(1) tolerated(0.16) deleterious(0.559) NULL C8orf34 116328 genome.wustl.edu 37 8 69552682 69552682 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052958.1 +1 predicted p.R282C 0.997 283 0% 218 29.8% 7 28.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL C8orf34 116328 genome.wustl.edu 37 8 69728171 69728171 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052958.1 +1 predicted p.V423I 1.000 253 0% 141 29.1% 3 33.3% benign(0) tolerated(1) - NULL SULF1 23213 genome.wustl.edu 37 8 70476293 70476293 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001128204.1 +1 validated p.P28L 0.143 375 0.3% 209 35.4% 23 0% benign(0) tolerated(0.21) neutral(0.044) NULL SULF1 23213 genome.wustl.edu 37 8 70536201 70536201 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001128204.1 +1 validated p.T540I 1.000 153 0% 66 25.8% 18 0% possibly_damaging(0.49) deleterious(0.03) deleterious(0.527) superfamily_Alkaline_phosphatase_core PRDM14 63978 genome.wustl.edu 37 8 70964514 70964514 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024504.2 -1 validated p.R505H 1.000 206 0% 117 26.5% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 XKR9 389668 genome.wustl.edu 37 8 71619290 71619290 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001011720.1 +1 provisional p.S132I 0.998 463 0% 273 29.3% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_XK-related EYA1 2138 genome.wustl.edu 37 8 72184067 72184067 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000503.4 -1 reviewed p.G298C 1.000 650 0% 449 32.3% 1 100% possibly_damaging(0.486) deleterious(0.01) deleterious(0.567) NULL LOC392232 392232 genome.wustl.edu 37 8 73142391 73142391 + RNA SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XR_037363.2 -1 model NULL 1.000 267 0% 189 31.2% 0 - - - - - LOC392232 392232 genome.wustl.edu 37 8 73157123 73157123 + RNA SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XR_037363.2 -1 model NULL 0.613 441 0% 247 27.5% 0 - - - - - JPH1 56704 genome.wustl.edu 37 8 75157095 75157095 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020647.2 -1 reviewed p.A525V 0.032 179 0% 106 26.4% 0 - benign(0) tolerated(0.43) neutral(0.013) NULL JPH1 56704 genome.wustl.edu 37 8 75227736 75227736 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020647.2 -1 reviewed p.R167C 1.000 17 0% 14 50% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GDAP1 54332 genome.wustl.edu 37 8 75272477 75272477 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018972.2 +1 reviewed p.G139V 1.000 487 0% 268 23.1% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL HNF4G 3174 genome.wustl.edu 37 8 76459821 76459821 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004133.4 +1 validated e3-1 1.000 326 0% 255 29.4% 0 - - - - - ZFHX4 79776 genome.wustl.edu 37 8 77620000 77620000 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024721.4 +1 validated p.A911V 1.000 159 0% 83 33.7% 0 - benign(0.135) - - superfamily_C2H2 and C2HC zinc fingers ZFHX4 79776 genome.wustl.edu 37 8 77761846 77761846 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024721.4 +1 validated p.C1203W 1.000 415 0.5% 242 31.8% 0 - benign(0.345) - - PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 ZFHX4 79776 genome.wustl.edu 37 8 77768271 77768271 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024721.4 +1 validated p.T2993 0.660 220 0% 131 31.3% 0 - - - - HMMSmart_SM00451 ZFHX4 79776 genome.wustl.edu 37 8 77776566 77776566 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024721.4 +1 validated p.A3494D 1.000 378 0% 270 31.1% 0 - probably_damaging(0.999) - - NULL ZBTB10 65986 genome.wustl.edu 37 8 81412381 81412381 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001105539.1 +1 validated p.G542E 1.000 145 0% 94 27.7% 15 46.6% possibly_damaging(0.603) tolerated(0.15) neutral(0.450) NULL PAG1 55824 genome.wustl.edu 37 8 81897533 81897533 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018440.3 -1 reviewed p.S118 0.999 105 0% 51 23.5% 1 0% - - - NULL IMPA1 3612 genome.wustl.edu 37 8 82593740 82593740 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001144878.1 -1 reviewed p.A78D 1.000 101 0% 65 21.5% 7 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Inositol_P,superfamily_Carbohydrate phosphatase SNX16 64089 genome.wustl.edu 37 8 82736069 82736069 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022133.3 -1 reviewed p.A190V 0.999 218 0% 163 31.9% 7 42.8% possibly_damaging(0.945) tolerated(0.14) deleterious(0.639) HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain LRRCC1 85444 genome.wustl.edu 37 8 86019587 86019587 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033402.4 +1 validated p.G19 1.000 23 0% 14 28.6% 1 100% - - - NULL LRRCC1 85444 genome.wustl.edu 37 8 86042233 86042233 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033402.4 +1 validated p.R569Q 1.000 335 0% 219 26.5% 2 0% benign(0.001) tolerated(1) - NULL E2F5 1875 genome.wustl.edu 37 8 86114381 86114381 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001951.3 +1 reviewed e2-1 1.000 90 0% 53 15.1% 0 - - - - - CA3 761 genome.wustl.edu 37 8 86352124 86352124 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005181.3 +1 reviewed p.T73N 0.127 106 0% 54 29.6% 2 50% possibly_damaging(0.507) tolerated(0.4) neutral(0.185) HMMPfam_Carb_anhydrase,superfamily_Euk_COanhd CA2 760 genome.wustl.edu 37 8 86392911 86392911 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000067.2 +1 reviewed p.R226C 1.000 341 0% 271 28.8% 43 44.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase ATP6V0D2 245972 genome.wustl.edu 37 8 87153737 87153737 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152565.1 +1 validated p.L180 0.786 163 0% 116 30.2% 0 - - - - HMMPfam_vATP-synt_AC39,superfamily_ATPase_V0/A0_c/d SLC7A13 157724 genome.wustl.edu 37 8 87226840 87226840 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138817.2 -1 validated p.I405 0.000 233 0% 185 25.4% 0 - - - - NULL WWP1 11059 genome.wustl.edu 37 8 87423968 87423968 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007013.3 +1 validated p.S309I 0.001 214 0% 144 16.7% 49 16.3% benign(0.196) tolerated(0.07) neutral(0.338) NULL WWP1 11059 genome.wustl.edu 37 8 87424036 87424036 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007013.3 +1 validated p.P332T 0.995 180 0% 119 28.6% 37 64.8% benign(0) deleterious(0.01) neutral(0.406) NULL FAM82B 51115 genome.wustl.edu 37 8 87492534 87492534 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016033.2 -1 validated p.A205T 1.000 25 0% 11 45.5% 44 40.9% probably_damaging(0.987) deleterious(0.01) deleterious(0.842) superfamily_Prenyl_trans CPNE3 8895 genome.wustl.edu 37 8 87568512 87568512 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003909.3 +1 reviewed p.G479 0.002 177 0% 120 31.7% 52 30.7% - - - HMMSmart_VWA,superfamily_SSF53300 CNGB3 54714 genome.wustl.edu 37 8 87660094 87660094 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019098.4 -1 reviewed p.P309S 1.000 277 0.4% 189 13.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CNBD1 168975 genome.wustl.edu 37 8 88363985 88363985 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173538.2 +1 provisional p.S372N 0.000 26 0% 39 17.9% 0 - benign(0.007) tolerated(0.42) neutral(0.014) HMMPfam_cNMP_binding,superfamily_cNMP_binding MMP16 4325 genome.wustl.edu 37 8 89053881 89053881 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005941.4 -1 reviewed p.S544 1.000 236 0% 159 19.5% 0 - - - - NULL NBN 4683 genome.wustl.edu 37 8 90971017 90971017 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002485.4 -1 reviewed p.P354S 0.133 317 0.6% 223 31.4% 41 31.7% benign(0.42) tolerated(0.24) neutral(0.174) NULL NBN 4683 genome.wustl.edu 37 8 90982685 90982685 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002485.4 -1 reviewed p.T268M 0.159 329 0% 217 12.9% 60 26.6% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL SLC26A7 115111 genome.wustl.edu 37 8 92307853 92307853 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_134266.1 +1 reviewed p.S133 0.018 220 0% 142 36.6% 5 60% - - - NULL SLC26A7 115111 genome.wustl.edu 37 8 92307857 92307857 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_134266.1 +1 reviewed p.L135M 0.215 214 0% 139 29.5% 8 37.5% probably_damaging(1) tolerated(0.19) deleterious(0.549) NULL SLC26A7 115111 genome.wustl.edu 37 8 92406049 92406049 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_134266.1 +1 reviewed p.S601G 0.023 404 0% 217 25.8% 4 25% benign(0.001) tolerated(0.75) neutral(0.002) HMMPfam_STAS,superfamily_STAS RUNX1T1 862 genome.wustl.edu 37 8 93003995 93003995 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175634.1 -1 reviewed p.G288V 1.000 182 0% 111 34.2% 1 0% possibly_damaging(0.897) deleterious(0.03) deleterious(0.718) NULL FAM92A1 137392 genome.wustl.edu 37 8 94730929 94730929 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145269.3 +1 predicted p.I190 0.857 24 0% 15 26.7% 11 45.4% - - - HMMPfam_DUF1208 RBM12B 389677 genome.wustl.edu 37 8 94746551 94746551 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_203390.2 -1 validated p.E696D 0.645 366 0.3% 195 26.7% 10 40% benign(0.253) tolerated(0.55) neutral(0.033) NULL PDP1 54704 genome.wustl.edu 37 8 94935012 94935012 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018444.3 +1 reviewed p.R242M 1.000 159 0.6% 82 35.4% 21 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain GEM 2669 genome.wustl.edu 37 8 95262770 95262770 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005261.3 -1 reviewed p.T220N 1.000 139 0% 98 27.6% 11 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases RAD54B 25788 genome.wustl.edu 37 8 95479762 95479762 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012415.2 -1 reviewed p.R2 0.999 489 0% 347 25.1% 3 0% - - - NULL KIAA1429 25962 genome.wustl.edu 37 8 95538801 95538801 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015496.3 -1 validated p.C557 1.000 470 0% 348 27% 24 45.8% - - - NULL ESRP1 54845 genome.wustl.edu 37 8 95655610 95655610 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017697.3 +1 validated p.V114A 0.991 112 0% 61 14.8% 29 0% benign(0.075) deleterious(0.01) neutral(0.411) NULL INTS8 55656 genome.wustl.edu 37 8 95850815 95850815 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017864.2 +1 provisional p.V329A 1.000 340 0% 194 24.7% 22 86.3% benign(0) tolerated(0.32) neutral(0.024) NULL INTS8 55656 genome.wustl.edu 37 8 95877918 95877918 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017864.2 +1 provisional p.R754Q 1.000 450 0% 287 35.2% 25 0% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL C8orf38 137682 genome.wustl.edu 37 8 96064458 96064458 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152416.2 +1 reviewed p.T291 0.896 295 0% 157 24.2% 9 33.3% - - - HMMPfam_SQS_PSY PTDSS1 9791 genome.wustl.edu 37 8 97316406 97316406 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014754.1 +1 provisional p.W297* 1.000 481 0% 324 21.3% 50 6% - - - HMMPfam_PSS SDC2 6383 genome.wustl.edu 37 8 97614695 97614695 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002998.3 +1 reviewed p.A82D 0.864 428 0.2% 269 13.8% 69 4.3% benign(0.001) tolerated(0.61) neutral(0.004) HMMPfam_Syndecan CPQ 10404 genome.wustl.edu 37 8 98155359 98155359 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016134.2 +1 provisional p.A456V 1.000 358 0% 231 19% 8 25% possibly_damaging(0.767) deleterious(0.01) deleterious(0.690) superfamily_SSF53187 TSPYL5 85453 genome.wustl.edu 37 8 98289539 98289539 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033512.2 -1 validated p.S178 0.003 243 0% 104 25% 0 - - - - NULL MTDH 92140 genome.wustl.edu 37 8 98731356 98731356 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178812.3 +1 validated p.A487D 0.982 156 0% 121 17.4% 90 30% possibly_damaging(0.777) deleterious(0.04) deleterious(0.639) NULL MATN2 4147 genome.wustl.edu 37 8 99015950 99015950 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002380.3 +1 reviewed p.E422D 0.007 80 0% 58 15.5% 16 0% benign(0) tolerated(0.6) neutral(0.004) PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin C8orf47 203111 genome.wustl.edu 37 8 99102170 99102170 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173549.2 +1 validated p.E309K 0.006 354 0% 225 31.6% 3 0% probably_damaging(0.984) tolerated(0.33) neutral(0.455) NULL STK3 6788 genome.wustl.edu 37 8 99608260 99608260 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006281.2 -1 validated p.Q274H 1.000 141 0% 89 29.2% 13 0% probably_damaging(0.994) deleterious(0.03) deleterious(0.817) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase VPS13B 157680 genome.wustl.edu 37 8 100160230 100160230 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017890.3 +1 reviewed p.G669R 1.000 545 0% 426 16.7% 1 0% possibly_damaging(0.706) tolerated(0.69) neutral(0.256) NULL VPS13B 157680 genome.wustl.edu 37 8 100493996 100493996 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017890.3 +1 reviewed p.C1279Y 1.000 276 0% 206 32.5% 4 0% benign(0.001) tolerated(0.41) neutral(0.015) NULL VPS13B 157680 genome.wustl.edu 37 8 100523656 100523656 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017890.3 +1 reviewed p.R1542C 1.000 132 0% 120 35.8% 2 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL VPS13B 157680 genome.wustl.edu 37 8 100568878 100568878 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017890.3 +1 reviewed p.S1674N 1.000 247 0% 203 31% 2 100% probably_damaging(0.995) tolerated(0.19) deleterious(0.507) NULL VPS13B 157680 genome.wustl.edu 37 8 100779089 100779089 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017890.3 +1 reviewed p.E2405K 1.000 152 0% 136 22.8% 4 75% probably_damaging(0.988) tolerated(0.84) neutral(0.438) NULL VPS13B 157680 genome.wustl.edu 37 8 100866243 100866243 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017890.3 +1 reviewed p.V3567 0.010 344 0% 189 29.6% 8 62.5% - - - NULL VPS13B 157680 genome.wustl.edu 37 8 100880520 100880520 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017890.3 +1 reviewed p.A3765V 1.000 109 0% 47 21.3% 6 16.6% probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL RGS22 26166 genome.wustl.edu 37 8 101016300 101016300 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015668.3 -1 validated p.G827 0.000 258 0.4% 176 26.1% 0 - - - - NULL ZNF706 51123 genome.wustl.edu 37 8 102213964 102213964 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001042510.1 -1 validated p.A2 1.000 111 0% 66 16.7% 98 33.6% - - - HMMPfam_DUF1909 UBR5 51366 genome.wustl.edu 37 8 103309160 103309160 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015902.4 -1 reviewed p.T1209M 1.000 210 0.5% 107 29% 16 50% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_zf-UBR,HMMSmart_ZnF_UBR1 ODF1 4956 genome.wustl.edu 37 8 103572868 103572868 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024410.3 +1 reviewed p.N170T 1.000 144 0% 94 30.9% 0 - probably_damaging(0.98) deleterious(0.03) deleterious(0.788) superfamily_HSP20_chap CTHRC1 115908 genome.wustl.edu 37 8 104384807 104384807 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000297577 +1 known p.V10F 0.000 164 0% 98 21.4% 0 - benign(0.008) tolerated(0.1) neutral(0.286) NULL SLC25A32 81034 genome.wustl.edu 37 8 104412708 104412708 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030780.3 -1 validated p.C293* 1.000 301 0% 185 26.5% 22 54.5% - - - superfamily_Mitoch_carrier,HMMPfam_Mito_carr SLC25A32 81034 genome.wustl.edu 37 8 104414267 104414267 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030780.3 -1 validated p.L190M 0.997 124 0.8% 88 19.3% 25 24% benign(0.175) tolerated(0.3) neutral(0.044) superfamily_Mitoch_carrier,HMMPfam_Mito_carr SLC25A32 81034 genome.wustl.edu 37 8 104415461 104415461 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030780.3 -1 validated p.R161 0.961 214 0% 159 28.3% 12 58.3% - - - superfamily_Mitoch_carrier,HMMPfam_Mito_carr DCAF13 25879 genome.wustl.edu 37 8 104453709 104453709 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015420.6 +1 validated p.K523N 0.004 317 0% 250 30% 105 36.1% benign(0.001) tolerated(0.36) neutral(0.020) HMMPfam_Sof1 RIMS2 9699 genome.wustl.edu 37 8 105160905 105160905 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000436393 +1 known p.I1073V 1.000 97 0% 68 17.6% 1 0% benign(0.005) tolerated(1) - NULL RIMS2 9699 genome.wustl.edu 37 8 105263296 105263296 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001100117.1 +1 validated p.A1246S 1.000 212 0% 139 33.1% 0 - possibly_damaging(0.927) tolerated(0.1) deleterious(0.661) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) LRP12 29967 genome.wustl.edu 37 8 105509662 105509662 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013437.4 -1 reviewed p.G373V 1.000 205 0% 142 31.7% 7 85.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_LDL receptor-like module ZFPM2 23414 genome.wustl.edu 37 8 106815359 106815359 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012082.3 +1 reviewed p.G1017C 1.000 136 0% 88 27.3% 0 - possibly_damaging(0.439) deleterious(0.04) deleterious(0.492) NULL NUDCD1 84955 genome.wustl.edu 37 8 110293197 110293197 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032869.3 -1 validated p.S343I 1.000 176 1.1% 121 25.6% 5 40% possibly_damaging(0.92) tolerated(0.08) deleterious(0.671) superfamily_HSP20-like chaperones,HMMPfam_CS ENY2 56943 genome.wustl.edu 37 8 110348394 110348394 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020189.4 +1 provisional p.A15V 1.000 148 0% 105 21.9% 137 37.9% benign(0) tolerated(0.53) neutral(0.007) HMMPfam_EnY2 PKHD1L1 93035 genome.wustl.edu 37 8 110478930 110478930 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_177531.4 +1 validated p.R2846H 1.000 81 0% 50 26% 0 - probably_damaging(0.986) deleterious(0.01) deleterious(0.840) NULL PKHD1L1 93035 genome.wustl.edu 37 8 110519923 110519923 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_177531.4 +1 validated p.V3676I 1.000 216 0% 169 14.2% 1 0% benign(0.365) tolerated(0.09) neutral(0.412) NULL CSMD3 114788 genome.wustl.edu 37 8 113259249 113259249 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198123.1 -1 validated p.P3408S 1.000 157 0% 117 32.5% 0 - probably_damaging(0.992) tolerated(0.06) deleterious(0.770) superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113277702 113277702 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198123.1 -1 validated p.G3209D 0.999 479 0% 315 24.8% 0 - benign(0.024) tolerated(0.67) neutral(0.004) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain CSMD3 114788 genome.wustl.edu 37 8 113562953 113562953 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198123.1 -1 validated p.Q1504R 1.000 224 0% 157 24.8% 0 - probably_damaging(0.971) tolerated(0.71) neutral(0.414) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD3 114788 genome.wustl.edu 37 8 113599408 113599408 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198123.1 -1 validated p.P1258S 1.000 207 0% 139 28.1% 0 - probably_damaging(0.996) tolerated(0.07) deleterious(0.780) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CSMD3 114788 genome.wustl.edu 37 8 114186021 114186021 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198123.1 -1 validated p.H213 0.994 238 0% 185 28.1% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain TRPS1 7227 genome.wustl.edu 37 8 116426762 116426762 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014112.2 -1 reviewed p.R1125Q 1.000 108 0% 64 35.9% 21 47.6% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL TRPS1 7227 genome.wustl.edu 37 8 116631464 116631464 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014112.2 -1 reviewed p.S287 1.000 221 0% 121 29.8% 15 53.3% - - - NULL RAD21 5885 genome.wustl.edu 37 8 117864854 117864854 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006265.2 -1 reviewed p.E419K 1.000 277 0% 169 37.9% 78 48.7% benign(0.048) tolerated(0.07) neutral(0.322) NULL SLC30A8 169026 genome.wustl.edu 37 8 118174062 118174062 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173851.2 +1 reviewed p.H220Y 1.000 205 0% 121 20.7% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cation_efflux EXT1 2131 genome.wustl.edu 37 8 119122923 119122923 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000127.2 -1 reviewed p.Q121 1.000 160 0% 89 31.5% 15 46.6% - - - HMMPfam_Exostosin TNFRSF11B 4982 genome.wustl.edu 37 8 119936822 119936822 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002546.3 -1 reviewed p.R333* 1.000 334 0% 193 30.1% 0 - - - - HMMPfam_Death,HMMSmart_SM00005,superfamily_DEATH domain COLEC10 10584 genome.wustl.edu 37 8 120118327 120118327 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006438.3 +1 reviewed p.G244D 0.994 253 0% 264 11.4% 0 - benign(0.078) tolerated(0.41) neutral(0.020) HMMPfam_Lectin_C,HMMSmart_CLECT,superfamily_C-type_lectin_fold NOV 4856 genome.wustl.edu 37 8 120435286 120435286 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002514.3 +1 reviewed p.T330A 0.985 599 0.2% 324 27.2% 10 60% probably_damaging(0.999) tolerated(0.39) deleterious(0.506) HMMSmart_CT,PatternScan_CTCK_1,HMMPfam_Cys_knot ENPP2 5168 genome.wustl.edu 37 8 120577196 120577196 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006209.3 -1 reviewed e24-1 1.000 302 0% 217 13.4% 0 - - - - - ENPP2 5168 genome.wustl.edu 37 8 120581568 120581568 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006209.3 -1 reviewed p.R706W 0.990 137 0% 81 34.6% 13 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00477,superfamily_His-Me finger endonucleases TAF2 6873 genome.wustl.edu 37 8 120809265 120809265 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003184.3 -1 reviewed p.Q352H 1.000 292 0% 201 23.9% 5 20% benign(0.361) tolerated(0.25) neutral(0.151) HMMPfam_Peptidase_M1,superfamily_SSF55486 TAF2 6873 genome.wustl.edu 37 8 120816233 120816233 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003184.3 -1 reviewed p.N149D 1.000 792 0.1% 589 32.3% 5 40% benign(0) tolerated(0.54) neutral(0.007) HMMPfam_Peptidase_M1,superfamily_SSF63737 DEPTOR 64798 genome.wustl.edu 37 8 121061852 121061852 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022783.2 +1 validated p.V380A 1.000 230 0% 151 23.2% 156 41.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_PDZ,superfamily_PDZ COL14A1 7373 genome.wustl.edu 37 8 121292234 121292234 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021110.1 +1 validated p.G1181D 1.000 146 0% 106 11.3% 10 0% probably_damaging(0.997) - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like COL14A1 7373 genome.wustl.edu 37 8 121293159 121293159 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021110.1 +1 validated e30-1 1.000 139 0% 94 33% 1 0% - - - - DERL1 79139 genome.wustl.edu 37 8 124034972 124034972 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024295.4 -1 validated p.Q135H 1.000 634 0% 397 29% 43 44.1% probably_damaging(0.975) deleterious(0.03) deleterious(0.781) HMMPfam_DER1 WDR67 93594 genome.wustl.edu 37 8 124132306 124132306 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145647.3 +1 validated p.A483V 1.000 93 0% 41 22% 0 - probably_damaging(0.992) deleterious(0.03) deleterious(0.812) NULL ZHX1 11244 genome.wustl.edu 37 8 124265912 124265912 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001017926.1 -1 reviewed p.R759W 1.000 418 0% 266 36.5% 19 47.3% probably_damaging(1) tolerated(0.12) deleterious(0.760) superfamily_Homeodomain_like FBXO32 114907 genome.wustl.edu 37 8 124525447 124525447 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_058229.2 -1 reviewed p.Q214H 1.000 86 0% 33 24.2% 7 14.2% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL FBXO32 114907 genome.wustl.edu 37 8 124525623 124525623 + Splice_Site SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_058229.2 -1 reviewed e6-1 1.000 99 0% 45 13.3% 0 - - - - - ANXA13 312 genome.wustl.edu 37 8 124696898 124696898 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001003954.1 -1 reviewed p.A302 0.002 265 0% 109 22% 0 - - - - superfamily_Annexin,HMMPfam_Annexin ANXA13 312 genome.wustl.edu 37 8 124705963 124705963 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001003954.1 -1 reviewed p.K217N 0.226 460 0% 235 25.5% 0 - probably_damaging(0.953) deleterious(0.04) deleterious(0.746) superfamily_Annexin,HMMPfam_Annexin FAM91A1 157769 genome.wustl.edu 37 8 124817579 124817579 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144963.2 +1 validated p.E628K 1.000 161 0% 106 21.7% 5 0% benign(0.039) tolerated(0.74) neutral(0.004) NULL FER1L6 654463 genome.wustl.edu 37 8 124968253 124968253 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001039112.2 +1 validated p.K5N 1.000 55 0% 31 19.4% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL TRMT12 55039 genome.wustl.edu 37 8 125463465 125463465 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017956.3 +1 validated p.Q99H 0.014 106 0% 36 19.4% 10 40% possibly_damaging(0.462) tolerated(0.07) deleterious(0.471) NULL MTSS1 9788 genome.wustl.edu 37 8 125577935 125577935 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000431961 -1 known p.H112Y 1.000 162 0% 85 25.9% 14 21.4% - - - NULL KIAA0196 9897 genome.wustl.edu 37 8 126056258 126056258 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014846.3 -1 reviewed p.V916I 1.000 211 0% 131 29% 53 35.8% benign(0.002) tolerated(0.16) neutral(0.059) HMMPfam_Strumpellin TRIB1 10221 genome.wustl.edu 37 8 126445811 126445811 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025195.2 +1 validated p.D205N 1.000 126 0% 50 42% 19 36.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) POU5F1B 5462 genome.wustl.edu 37 8 128428160 128428160 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000391675 +1 known p.G17S 0.062 10 0.000 4 1.000 0 - benign(0.029) deleterious(0.01) neutral(0.407) NULL MYC 4609 genome.wustl.edu 37 8 128753094 128753094 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002467.4 +1 reviewed p.L419M 0.004 419 0.2% 211 29.9% 68 42.6% probably_damaging(0.955) tolerated(0.1) deleterious(0.685) HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain FAM49B 51571 genome.wustl.edu 37 8 130883697 130883697 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016623.3 -1 predicted p.N40I 1.000 279 0% 194 15.5% 37 13.5% possibly_damaging(0.782) deleterious(0.01) deleterious(0.699) HMMPfam_DUF1394 ASAP1 50807 genome.wustl.edu 37 8 131104232 131104232 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018482.2 -1 validated p.G853 1.000 374 0% 205 25.9% 23 30.4% - - - NULL ASAP1 50807 genome.wustl.edu 37 8 131191524 131191524 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018482.2 -1 validated p.Y244 0.787 96 0% 53 41.5% 9 33.3% - - - NULL ADCY8 114 genome.wustl.edu 37 8 131826343 131826343 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001115.2 -1 reviewed p.H962R 1.000 163 0% 110 33.6% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_CYCc KCNQ3 3786 genome.wustl.edu 37 8 133141996 133141996 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004519.2 -1 reviewed p.G711E 1.000 123 0% 70 27.1% 0 - possibly_damaging(0.619) tolerated(0.13) neutral(0.468) NULL LRRC6 23639 genome.wustl.edu 37 8 133622422 133622422 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012472.3 -1 provisional p.C377Y 1.000 328 0.6% 220 25.5% 2 0% benign(0.12) tolerated(0.12) neutral(0.270) HMMPfam_CS PHF20L1 51105 genome.wustl.edu 37 8 133811103 133811103 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016018.4 +1 validated p.G142 1.000 98 0% 68 23.5% 11 100% - - - NULL TG 7038 genome.wustl.edu 37 8 133925450 133925450 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003235.4 +1 reviewed p.C1440R 1.000 213 0% 120 21.7% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_TNF receptor-like TG 7038 genome.wustl.edu 37 8 133980191 133980191 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003235.4 +1 reviewed p.P1947S 0.607 107 0% 71 18.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TG 7038 genome.wustl.edu 37 8 133981785 133981785 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003235.4 +1 reviewed p.V1982 0.962 323 0% 209 28.2% 0 - - - - NULL WISP1 8840 genome.wustl.edu 37 8 134225191 134225191 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003882.2 +1 reviewed p.P52S 1.000 68 0% 51 21.6% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00121 WISP1 8840 genome.wustl.edu 37 8 134233035 134233035 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003882.2 +1 reviewed p.D187 0.634 30 0% 13 38.5% 0 - - - - NULL WISP1 8840 genome.wustl.edu 37 8 134239655 134239655 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003882.2 +1 reviewed p.A269V 1.000 95 0% 56 28.6% 2 0% benign(0) deleterious(0.02) neutral(0.383) NULL WISP1 8840 genome.wustl.edu 37 8 134239673 134239673 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003882.2 +1 reviewed p.A275D 1.000 62 0% 39 38.5% 2 0% possibly_damaging(0.838) deleterious(0.01) deleterious(0.726) HMMPfam_Cys_knot NDRG1 10397 genome.wustl.edu 37 8 134276799 134276799 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001135242.1 -1 reviewed p.G66S 1.000 213 1.4% 110 23.6% 20 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ndr,superfamily_alpha/beta-Hydrolases KHDRBS3 10656 genome.wustl.edu 37 8 136594318 136594318 + Splice_Site SNP T T C rs113388499 TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006558.1 +1 provisional e6+2 1.000 117 0% 69 36.2% 3 100% - - - - FAM135B 51059 genome.wustl.edu 37 8 139180157 139180157 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015912.3 -1 validated p.Y413 0.124 368 0% 192 26.6% 0 - - - - NULL FAM135B 51059 genome.wustl.edu 37 8 139278044 139278044 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015912.3 -1 validated p.V67M 0.501 163 0% 114 27.2% 0 - possibly_damaging(0.95) deleterious(0.02) deleterious(0.776) NULL CHRAC1 54108 genome.wustl.edu 37 8 141525533 141525533 + RNA SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NR_023360.1 +1 validated NULL 0.007 29 0% 13 30.8% 40 42.5% - - - - EIF2C2 27161 genome.wustl.edu 37 8 141542668 141542668 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000220592 -1 known p.R773H 1.000 62 0% 24 45.8% 25 48% benign(0) tolerated(0.43) neutral(0.013) HMMPfam_Piwi,superfamily_Ribonuclease H-like EIF2C2 27161 genome.wustl.edu 37 8 141567305 141567305 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012154.3 -1 reviewed p.R296Q 0.404 107 0% 51 19.6% 10 40% - - - NULL DENND3 22898 genome.wustl.edu 37 8 142199164 142199164 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014957.2 +1 validated p.S975I 1.000 41 0% 16 50% 8 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like CYP11B1 1584 genome.wustl.edu 37 8 143958537 143958537 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000497.3 -1 reviewed p.R166M 0.985 58 0% 29 34.5% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_p450,superfamily_Cytochrome_P450 TOP1MT 116447 genome.wustl.edu 37 8 144392282 144392282 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052963.1 -1 reviewed p.G553 1.000 77 0% 32 18.8% 9 0% - - - superfamily_DNA_brk_join_enz,HMMSmart_TOPEUc,PatternScan_TOPOISOMERASE_I_EUK TOP1MT 116447 genome.wustl.edu 37 8 144398243 144398243 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052963.1 -1 reviewed p.V462M 0.995 103 0% 65 27.7% 32 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_DNA_brk_join_enz,HMMSmart_TOPEUc,HMMPfam_Topoisom_I C8orf73 642475 genome.wustl.edu 37 8 144654307 144654307 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001100878.1 -1 validated p.Y115H 0.051 29 0% 16 25% 1 100% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL EEF1D 1936 genome.wustl.edu 37 8 144662286 144662286 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130053.1 -1 reviewed p.P601S 1.000 35 0% 24 16.7% 565 36.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_EF1_GNE,superfamily_eEF-1beta-like ZNF623 9831 genome.wustl.edu 37 8 144732881 144732881 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014789.3 +1 validated p.R280H 0.001 808 0.2% 471 28.2% 9 44.4% probably_damaging(0.996) tolerated(0.33) deleterious(0.486) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SCRIB 23513 genome.wustl.edu 37 8 144891879 144891879 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182706.3 -1 validated p.L514M 1.000 34 0% 23 21.7% 32 53.1% possibly_damaging(0.923) deleterious(0.02) deleterious(0.756) NULL SHARPIN 81858 genome.wustl.edu 37 8 145157953 145157953 + Splice_Site SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030974.3 -1 validated e2+1 1.000 38 0% 17 23.5% 5 80% - - - - CPSF1 29894 genome.wustl.edu 37 8 145624229 145624229 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013291.2 -1 validated p.T526 1.000 43 0% 19 26.3% 54 31.4% - - - NULL ZNF16 7564 genome.wustl.edu 37 8 146156754 146156754 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001029976.2 -1 reviewed p.S473R 0.050 330 0% 206 14.1% 15 20% probably_damaging(0.988) tolerated(0.27) deleterious(0.471) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers C8orf33 65265 genome.wustl.edu 37 8 146278456 146278456 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_023080.2 +1 validated p.Q109H 0.863 80 0% 35 22.9% 98 51% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL CBWD1 55871 genome.wustl.edu 37 9 154705 154705 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000377447 -1 known p.Y222 0.237 226 0% 182 28% 0 - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases CBWD1 55871 genome.wustl.edu 37 9 162470 162470 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018491.3 -1 validated e6-1 1.000 122 0% 84 22.6% 0 - - - - - KANK1 23189 genome.wustl.edu 37 9 712029 712029 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015158.2 +1 reviewed p.S421 0.000 111 0% 46 30.4% 20 25% - - - superfamily_ANK KANK1 23189 genome.wustl.edu 37 9 730166 730166 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015158.2 +1 reviewed p.S938 0.000 191 0% 97 23.7% 19 47.3% - - - superfamily_ANK KANK1 23189 genome.wustl.edu 37 9 738435 738435 + Missense_Mutation SNP G G A rs189399241 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015158.2 +1 reviewed p.G1162S 1.000 309 0% 143 32.9% 59 32.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK SMARCA2 6595 genome.wustl.edu 37 9 2056775 2056775 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003070.3 +1 reviewed p.A426D 1.000 43 2.3% 31 22.6% 21 66.6% possibly_damaging(0.768) deleterious(0) deleterious(0.730) NULL VLDLR 7436 genome.wustl.edu 37 9 2648668 2648668 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003383.3 +1 reviewed e14-1 1.000 347 0% 158 29.7% 1 0% - - - - KIAA0020 9933 genome.wustl.edu 37 9 2831329 2831329 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014878.4 -1 validated p.D178N 1.000 202 0% 123 29.3% 13 69.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00025,superfamily_ARM repeat RFX3 5991 genome.wustl.edu 37 9 3262980 3262980 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_134428.1 -1 reviewed p.N520K 1.000 427 0% 370 29.5% 17 58.8% benign(0.406) deleterious(0.01) deleterious(0.536) NULL GLIS3 169792 genome.wustl.edu 37 9 3829449 3829449 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001042413.1 -1 reviewed p.P839 0.048 199 1% 127 25.2% 13 53.8% - - - NULL C9orf68 55064 genome.wustl.edu 37 9 4604220 4604220 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001039395.3 -1 validated p.P380H 0.011 175 0% 122 17.2% 2 50% probably_damaging(0.996) deleterious(0.04) deleterious(0.810) NULL JAK2 3717 genome.wustl.edu 37 9 5054776 5054776 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004972.3 +1 reviewed p.G276 1.000 348 0% 267 15.4% 5 20% - - - NULL JAK2 3717 genome.wustl.edu 37 9 5089834 5089834 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004972.3 +1 reviewed p.V911A 1.000 122 0% 59 27.1% 10 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like ERMP1 79956 genome.wustl.edu 37 9 5787521 5787521 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000489219 -1 known p.W836* 1.000 369 0% 241 39% 20 50% - - - NULL KIAA2026 158358 genome.wustl.edu 37 9 5921384 5921384 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001017969.2 -1 validated p.A1538T 1.000 726 0% 493 14.6% 21 14.2% benign(0) tolerated(1) - NULL KIAA2026 158358 genome.wustl.edu 37 9 5922767 5922767 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001017969.2 -1 validated p.D1077Y 1.000 621 0.2% 424 23.6% 4 25% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL KIAA2026 158358 genome.wustl.edu 37 9 5923134 5923134 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001017969.2 -1 validated p.K954 1.000 701 0% 491 27.9% 11 54.5% - - - NULL RANBP6 26953 genome.wustl.edu 37 9 6014299 6014299 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012416.2 -1 validated p.D437Y 1.000 112 0.9% 69 11.6% 8 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HEAT,superfamily_ARM-type_fold IL33 90865 genome.wustl.edu 37 9 6250525 6250525 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033439.2 +1 validated p.R48H 0.686 252 0% 185 25.9% 12 41.6% possibly_damaging(0.865) deleterious(0) deleterious(0.780) NULL UHRF2 115426 genome.wustl.edu 37 9 6475489 6475489 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152896.1 +1 reviewed p.G321E 1.000 1018 0.1% 649 28.2% 13 61.5% benign(0.221) tolerated(0.58) neutral(0.027) NULL GLDC 2731 genome.wustl.edu 37 9 6533070 6533070 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000170.2 -1 reviewed p.P1004S 1.000 299 0% 168 26.8% 1 0% probably_damaging(1) tolerated(0.33) deleterious(0.524) NULL LOC100287684 100287684 genome.wustl.edu 37 9 6834563 6834563 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002342904.1 -1 model p.V305 1.000 61 0% 30 16.7% 0 - - - - NULL LOC100287684 100287684 genome.wustl.edu 37 9 6835411 6835411 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002342904.1 -1 model p.R50 1.000 235 0% 112 30.4% 3 0% - - - NULL KDM4C 23081 genome.wustl.edu 37 9 6849543 6849543 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015061.3 +1 reviewed p.V158I 0.290 610 0% 382 13.6% 4 25% benign(0) tolerated(1) - HMMSmart_SM00558 MPDZ 8777 genome.wustl.edu 37 9 13121763 13121763 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003829.3 -1 validated p.L1736I 1.000 176 0% 110 27.3% 5 40% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like NFIB 4781 genome.wustl.edu 37 9 14150218 14150218 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005596.2 -1 validated p.I244 0.975 629 0% 494 28.5% 15 46.6% - - - HMMPfam_CTF_NFI ZDHHC21 340481 genome.wustl.edu 37 9 14674328 14674328 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178566.4 -1 validated p.R4Q 1.000 457 0% 371 23.5% 8 25% possibly_damaging(0.885) tolerated(0.05) deleterious(0.692) NULL FREM1 158326 genome.wustl.edu 37 9 14812981 14812981 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144966.5 -1 reviewed p.V908I 0.011 613 0.2% 387 26.9% 0 - benign(0.001) tolerated(0.59) neutral(0.004) NULL BNC2 54796 genome.wustl.edu 37 9 16552575 16552575 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017637.5 -1 validated p.G208S 1.000 138 0% 53 28.3% 0 - probably_damaging(0.977) tolerated(0.08) deleterious(0.719) NULL ADAMTSL1 92949 genome.wustl.edu 37 9 18817204 18817204 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001040272.4 +1 validated p.G1301 0.999 32 0% 23 26.1% 1 0% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HAUS6 54801 genome.wustl.edu 37 9 19058856 19058856 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017645.3 -1 provisional p.A637T 0.001 232 0% 144 10.4% 13 30.7% benign(0) tolerated(0.26) neutral(0.034) NULL PLIN2 123 genome.wustl.edu 37 9 19121097 19121097 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001122.2 -1 reviewed p.A126T 0.999 207 0% 109 30.3% 81 40.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Perilipin DENND4C 55667 genome.wustl.edu 37 9 19336364 19336364 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017925.4 +1 provisional p.Q660* 1.000 156 0% 92 29.3% 3 0% - - - NULL DENND4C 55667 genome.wustl.edu 37 9 19346883 19346883 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017925.4 +1 provisional p.S1087 0.030 147 0% 113 21.2% 11 18.1% - - - NULL RPS6 6194 genome.wustl.edu 37 9 19378843 19378843 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001010.2 -1 reviewed p.G71D 1.000 100 0% 58 31% 7719 41.8% possibly_damaging(0.801) tolerated(0.15) deleterious(0.542) HMMPfam_Ribosomal_S6e LOC392288 392288 genome.wustl.edu 37 9 19461277 19461277 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_373277.5 -1 model p.R261C 0.001 60 0% 26 38.5% 0 - - - - superfamily_Ubiquitin-like SLC24A2 25769 genome.wustl.edu 37 9 19786017 19786017 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020344.1 -1 provisional p.N283S 1.000 233 0% 117 33.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA1797 54914 genome.wustl.edu 37 9 20823051 20823051 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017794.3 +1 validated p.K619 0.994 130 0% 127 40.2% 21 52.3% - - - superfamily_ARM-type_fold IFNB1 3456 genome.wustl.edu 37 9 21077786 21077786 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002176.2 -1 validated p.G28E 0.006 198 0% 144 34.7% 0 - possibly_damaging(0.628) tolerated(0.16) neutral(0.278) HMMPfam_Interferon,superfamily_4-helical cytokines IFNA5 3442 genome.wustl.edu 37 9 21304960 21304960 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002169.2 -1 validated p.T99N 0.021 658 0% 425 30.4% 0 - possibly_damaging(0.662) deleterious(0) deleterious(0.678) HMMPfam_Interferon,HMMSmart_IFabd,superfamily_4_helix_cytokine MTAP 4507 genome.wustl.edu 37 9 21837988 21837988 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002451.3 +1 reviewed p.P143 0.187 623 0% 386 32.1% 20 20% - - - HMMPfam_PNP_UDP_1,superfamily_Purine and uridine phosphorylases MTAP 4507 genome.wustl.edu 37 9 21854687 21854687 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002451.3 +1 reviewed p.V170I 0.991 342 0% 238 31.5% 20 65% benign(0.002) tolerated(0.41) neutral(0.015) HMMPfam_PNP_UDP_1,superfamily_Purine and uridine phosphorylases C9orf82 79886 genome.wustl.edu 37 9 26884880 26884880 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024828.3 -1 validated p.D198G 1.000 373 0% 213 34.3% 34 47% benign(0.137) deleterious(0.02) neutral(0.395) NULL C9orf72 203228 genome.wustl.edu 37 9 27556774 27556774 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018325.2 -1 validated p.V292 0.997 252 0% 158 10.8% 11 0% - - - NULL LINGO2 158038 genome.wustl.edu 37 9 27949213 27949213 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152570.1 -1 provisional p.S486N 1.000 204 0.5% 150 32.7% 0 - probably_damaging(0.987) deleterious(0.02) deleterious(0.820) HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 LINGO2 158038 genome.wustl.edu 37 9 27950531 27950531 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152570.1 -1 provisional p.R47* 1.000 227 0.4% 171 24.6% 0 - - - - HMMPfam_LRRNT,HMMSmart_LRRNT,superfamily_SSF52058 DDX58 23586 genome.wustl.edu 37 9 32459383 32459383 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014314.3 -1 reviewed p.V823I 0.307 270 0.4% 162 23.5% 15 20% benign(0) tolerated(1) - NULL TOPORS 10210 genome.wustl.edu 37 9 32543588 32543588 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005802.3 -1 reviewed p.G312E 1.000 215 0% 125 25.6% 11 63.6% unknown(0) tolerated(0.07) - NULL TOPORS 10210 genome.wustl.edu 37 9 32543907 32543907 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005802.3 -1 reviewed p.P206S 1.000 254 0% 154 32.5% 7 42.8% unknown(0) tolerated(0.05) - NULL APTX 54840 genome.wustl.edu 37 9 32987811 32987811 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175073.1 -1 reviewed p.V72I 0.879 280 0.4% 135 23.7% 18 61.1% benign(0) tolerated(0.95) - superfamily_SMAD/FHA domain SMU1 55234 genome.wustl.edu 37 9 33056946 33056946 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018225.2 -1 validated p.S295I 1.000 366 0% 190 25.3% 99 51.5% benign(0.011) deleterious(0) neutral(0.445) HMMSmart_SM00320,superfamily_WD40 repeat-like NFX1 4799 genome.wustl.edu 37 9 33295189 33295189 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002504.3 +1 reviewed p.G266V 0.275 169 0% 134 20.9% 18 38.8% benign(0.116) tolerated(0.09) neutral(0.305) NULL NOL6 65083 genome.wustl.edu 37 9 33462674 33462674 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022917.4 -1 reviewed p.R1143 1.000 170 0% 74 33.8% 51 47% - - - NULL UBAP2 55833 genome.wustl.edu 37 9 33927001 33927001 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018449.2 -1 reviewed p.L817F 1.000 41 0% 25 24% 75 30.6% probably_damaging(1) tolerated(0.05) deleterious(0.845) NULL DCAF12 25853 genome.wustl.edu 37 9 34093293 34093293 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015397.3 -1 reviewed p.R339* 1.000 172 0% 96 25% 40 5% - - - HMMSmart_WD40 UBAP1 51271 genome.wustl.edu 37 9 34249921 34249921 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016525.4 +1 reviewed p.L410I 1.000 105 0% 59 32.2% 65 46.1% probably_damaging(0.991) tolerated(0.16) deleterious(0.504) superfamily_UBA-like C9orf24 84688 genome.wustl.edu 37 9 34379098 34379098 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_147169.1 -1 reviewed p.T104 0.195 139 0% 83 28.9% 5 80% - - - NULL DNAI1 27019 genome.wustl.edu 37 9 34490022 34490022 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012144.2 +1 reviewed p.S134Y 0.951 82 0% 45 20% 1 0% benign(0.317) deleterious(0.03) neutral(0.464) superfamily_WD40_like DNAJB5 25822 genome.wustl.edu 37 9 34996831 34996831 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001135005.1 +1 validated p.V333M 0.994 85 0% 36 16.7% 5 0% possibly_damaging(0.95) deleterious(0) deleterious(0.838) HMMPfam_DnaJ_C,superfamily_HSP40/DnaJ peptide-binding domain C9orf131 138724 genome.wustl.edu 37 9 35044125 35044125 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_203299.2 +1 validated p.T500N 0.003 837 0% 471 29.1% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL VCP 7415 genome.wustl.edu 37 9 35067983 35067983 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007126.3 -1 reviewed p.C69 1.000 319 0% 169 21.3% 108 6.4% - - - HMMPfam_CDC48_N,superfamily_ADC-like PIGO 84720 genome.wustl.edu 37 9 35091686 35091686 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032634.2 -1 reviewed p.R733Q 1.000 52 0% 20 25% 15 53.3% benign(0.155) tolerated(0.41) neutral(0.028) NULL STOML2 30968 genome.wustl.edu 37 9 35101169 35101169 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013442.1 -1 provisional p.S229 0.014 298 0% 117 32.5% 205 39% - - - NULL UNC13B 10497 genome.wustl.edu 37 9 35380501 35380501 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006377.3 +1 reviewed p.R665C 1.000 192 0% 107 32.7% 11 36.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB TESK1 7016 genome.wustl.edu 37 9 35609437 35609437 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006285.2 +1 reviewed p.Q527* 0.776 65 0% 42 23.8% 84 28.5% - - - NULL CCDC107 203260 genome.wustl.edu 37 9 35660597 35660597 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_174923.1 +1 provisional p.E121D 1.000 143 0.7% 71 23.9% 28 14.2% benign(0.395) deleterious(0) deleterious(0.572) NULL TLN1 7094 genome.wustl.edu 37 9 35697907 35697907 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006289.3 -1 reviewed p.A2503T 1.000 56 0% 43 25.6% 162 40.7% benign(0.406) tolerated(0.13) neutral(0.383) HMMPfam_I_LWEQ,HMMSmart_ILWEQ TLN1 7094 genome.wustl.edu 37 9 35721734 35721734 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006289.3 -1 reviewed p.R339* 1.000 291 0.3% 168 24.4% 33 6% - - - superfamily_SSF50729 TLN1 7094 genome.wustl.edu 37 9 35724889 35724889 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006289.3 -1 reviewed p.T99M 1.000 325 0% 176 30.1% 22 4.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FERM_N,HMMSmart_B41,superfamily_SSF54236 GBA2 57704 genome.wustl.edu 37 9 35737541 35737541 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000378094 -1 known p.L856I 0.206 58 0% 39 25.6% 6 0% possibly_damaging(0.936) tolerated(0.61) neutral(0.386) HMMPfam_DUF608 GBA2 57704 genome.wustl.edu 37 9 35737860 35737860 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020944.2 -1 reviewed p.A797V 0.228 222 0% 124 37.9% 30 40% benign(0.009) tolerated(0.26) neutral(0.035) HMMPfam_DUF608 RGP1 9827 genome.wustl.edu 37 9 35751980 35751980 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080496.1 +1 provisional p.R304C 0.991 90 0% 40 35% 11 27.2% benign(0.006) deleterious(0.05) neutral(0.345) HMMPfam_Rgp1 MSMP 692094 genome.wustl.edu 37 9 35753711 35753711 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001044264.1 -1 provisional p.K62T 0.998 92 0% 37 29.7% 13 61.5% benign(0.058) tolerated(0.24) neutral(0.041) NULL NPR2 4882 genome.wustl.edu 37 9 35806472 35806472 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003995.3 +1 reviewed p.R819H 1.000 244 0% 111 28.8% 9 22.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NPR2 4882 genome.wustl.edu 37 9 35809163 35809163 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003995.3 +1 reviewed p.I999 1.000 504 0% 228 29.4% 5 60% - - - HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain RECK 8434 genome.wustl.edu 37 9 36087903 36087903 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021111.2 +1 reviewed p.G284C 0.999 294 0% 200 27% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RNF38 152006 genome.wustl.edu 37 9 36357880 36357880 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022781.4 -1 reviewed p.I210 0.998 236 0% 122 35.2% 27 37% - - - NULL MELK 9833 genome.wustl.edu 37 9 36665508 36665508 + Silent SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014791.2 +1 provisional p.T446 1.000 253 0% 190 15.3% 45 28.8% - - - NULL PAX5 5079 genome.wustl.edu 37 9 36846846 36846846 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016734.1 -1 reviewed p.L365 1.000 39 0% 18 33.3% 0 - - - - NULL ZBTB5 9925 genome.wustl.edu 37 9 37441779 37441779 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014872.2 -1 validated p.A257V 0.004 223 0% 127 28.3% 10 30% benign(0.003) tolerated(0.08) neutral(0.300) NULL POLR1E 64425 genome.wustl.edu 37 9 37498102 37498102 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022490.1 +1 provisional p.V256A 1.000 99 1% 62 29% 33 15.1% possibly_damaging(0.596) deleterious(0.01) deleterious(0.612) HMMPfam_RNA_pol_I_A49 FBXO10 26267 genome.wustl.edu 37 9 37537197 37537197 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012166.2 -1 validated p.G443 0.002 90 0% 53 13.2% 2 0% - - - HMMSmart_PbH1,HMMSmart_CASH,superfamily_Pectin_lyas_like FRMPD1 22844 genome.wustl.edu 37 9 37740177 37740177 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014907.2 +1 validated p.R551I 0.013 185 0% 84 31% 0 - benign(0.067) deleterious(0.03) neutral(0.369) NULL RG9MTD3 158234 genome.wustl.edu 37 9 37777657 37777657 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144964.2 +1 validated p.G302* 1.000 137 0% 95 24.2% 11 45.4% - - - HMMPfam_tRNA_m1G_MT DCAF10 79269 genome.wustl.edu 37 9 37861176 37861176 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024345.3 +1 validated p.R451* 1.000 321 0% 207 29% 42 47.6% - - - superfamily_WD40 repeat-like MCART1 92014 genome.wustl.edu 37 9 37887836 37887836 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033412.3 -1 validated p.R238C 1.000 283 0% 137 23.4% 11 54.5% probably_damaging(1) tolerated(0.16) deleterious(0.559) superfamily_Mitoch_carrier,HMMPfam_Mito_carr CNTNAP3 79937 genome.wustl.edu 37 9 39177419 39177419 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033655.3 -1 reviewed p.V275I 0.967 151 0% 62 11.3% 0 - possibly_damaging(0.942) tolerated(0.06) deleterious(0.710) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 ZNF658 26149 genome.wustl.edu 37 9 40774469 40774469 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033160.5 -1 validated p.C269Y 0.001 659 0% 411 24.8% 5 20% possibly_damaging(0.449) tolerated(1) neutral(0.147) superfamily_C2H2 and C2HC zinc fingers FAM75A6 389730 genome.wustl.edu 37 9 43625022 43625022 + Missense_Mutation SNP G G A rs150951585 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001145196.1 -1 predicted p.A1222V 0.000 762 0% 386 27.2% 0 - possibly_damaging(0.649) tolerated(0.11) deleterious(0.500) NULL FAM75A6 389730 genome.wustl.edu 37 9 43629286 43629286 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001145196.1 -1 predicted p.R75M 0.000 484 0.2% 257 26.5% 0 - probably_damaging(0.964) deleterious(0.03) deleterious(0.771) NULL FAM75A6 389730 genome.wustl.edu 37 9 43629308 43629308 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001145196.1 -1 predicted p.R68W 0.000 501 0% 267 25.1% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL ANKRD20A4 728747 genome.wustl.edu 37 9 69391161 69391161 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098805.1 +1 provisional p.I223 0.551 1175 0% 774 7.9% 0 - - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ANKRD20A4 728747 genome.wustl.edu 37 9 69421997 69421997 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098805.1 +1 provisional p.E487 0.000 212 0% 149 17.4% 0 - - - - NULL ANKRD20A4 728747 genome.wustl.edu 37 9 69423396 69423396 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098805.1 +1 provisional p.E564D 0.983 552 0% 393 9.4% 0 - possibly_damaging(0.806) deleterious(0.04) deleterious(0.652) NULL PGM5 5239 genome.wustl.edu 37 9 71098964 71098964 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021965.3 +1 validated p.Q493 1.000 478 0% 288 27.8% 9 0% - - - HMMPfam_PGM_PMM_IV,superfamily_Phosphoglucomutase C-terminal domain FAM189A2 9413 genome.wustl.edu 37 9 72000894 72000894 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000457148 +1 known p.A135V 0.005 120 0% 46 15.2% 4 50% - - - NULL APBA1 320 genome.wustl.edu 37 9 72130933 72130933 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001163.3 -1 reviewed p.D398 0.621 162 0% 79 27.8% 2 50% - - - NULL C9orf135 138255 genome.wustl.edu 37 9 72471509 72471509 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001010940.1 +1 validated p.M100I 0.008 240 0% 177 28.8% 0 - benign(0) tolerated(0.2) neutral(0.049) NULL TRPM3 80036 genome.wustl.edu 37 9 73151292 73151292 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000396280 -1 known p.L1416I 0.152 299 0% 163 31.3% 0 - - - - NULL TRPM3 80036 genome.wustl.edu 37 9 73152140 73152140 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001007471.2 -1 reviewed p.T1285S 1.000 176 0% 92 9.8% 0 - benign(0) tolerated(0.68) neutral(0.002) NULL TRPM3 80036 genome.wustl.edu 37 9 73152202 73152202 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001007471.2 -1 reviewed p.A1264V 1.000 124 0% 84 15.5% 0 - benign(0) tolerated(1) - NULL TRPM3 80036 genome.wustl.edu 37 9 73236167 73236167 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001007471.2 -1 reviewed p.G599V 1.000 85 0% 51 19.6% 0 - benign(0.045) deleterious(0.01) neutral(0.408) NULL TMEM2 23670 genome.wustl.edu 37 9 74345693 74345693 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013390.2 -1 validated p.T567 0.001 295 0% 192 13.5% 13 38.4% - - - NULL FAM108B1 51104 genome.wustl.edu 37 9 74489840 74489840 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016014.2 -1 validated p.R53* 1.000 233 0% 162 25.9% 22 27.2% - - - superfamily_SSF53474 ZFAND5 7763 genome.wustl.edu 37 9 74971872 74971872 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001102420.1 -1 validated p.M156I 1.000 165 0% 93 29% 154 41.5% possibly_damaging(0.7) deleterious(0.04) deleterious(0.601) HMMPfam_zf-AN1,HMMSmart_SM00154 TMC1 117531 genome.wustl.edu 37 9 75435881 75435881 + Silent SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138691.2 +1 reviewed p.A629 0.741 355 0% 246 35% 1 0% - - - HMMPfam_TMC ANXA1 301 genome.wustl.edu 37 9 75780077 75780077 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000700.1 +1 reviewed p.V220M 1.000 178 0% 147 33.3% 382 47.3% benign(0.35) tolerated(0.08) neutral(0.411) superfamily_Annexin,PatternScan_ANNEXIN,HMMPfam_Annexin,HMMSmart_SM00335 RORB 6096 genome.wustl.edu 37 9 77282812 77282812 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006914.3 +1 reviewed p.S369Y 1.000 226 0% 118 29.7% 1 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain TRPM6 140803 genome.wustl.edu 37 9 77376928 77376928 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017662.4 -1 reviewed p.I1553 0.000 270 0% 158 12.7% 4 0% - - - NULL TRPM6 140803 genome.wustl.edu 37 9 77397675 77397675 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017662.4 -1 reviewed p.P1005Q 1.000 395 0% 238 31.1% 2 50% probably_damaging(1) tolerated(0.13) deleterious(0.752) HMMPfam_Ion_trans TRPM6 140803 genome.wustl.edu 37 9 77400821 77400821 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017662.4 -1 reviewed p.A963V 0.998 1022 0% 618 24.9% 2 50% benign(0.035) tolerated(0.13) neutral(0.255) HMMPfam_Ion_trans PCSK5 5125 genome.wustl.edu 37 9 78789943 78789943 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006200.3 +1 reviewed p.V600M 0.061 323 0% 252 24.2% 2 0% benign(0.045) tolerated(0.1) neutral(0.289) superfamily_Galactose-binding domain-like LOC392352 392352 genome.wustl.edu 37 9 79164516 79164516 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002342942.1 -1 model p.G116 0.980 619 0% 429 29.8% 0 - - - - HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1,superfamily_Cyclophilin-like PRUNE2 158471 genome.wustl.edu 37 9 79267461 79267461 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015225.2 -1 validated p.D2832G 1.000 939 0% 677 29.4% 2 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL PRUNE2 158471 genome.wustl.edu 37 9 79318370 79318370 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015225.2 -1 validated p.D2720V 0.995 132 0% 75 26.7% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL PRUNE2 158471 genome.wustl.edu 37 9 79320387 79320387 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015225.2 -1 validated p.D2268G 0.000 122 0.8% 69 31.9% 1 0% possibly_damaging(0.889) deleterious(0) deleterious(0.794) NULL PRUNE2 158471 genome.wustl.edu 37 9 79322690 79322690 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000426088 -1 known p.A822T 0.000 88 0% 34 29.4% 0 - - - - NULL PRUNE2 158471 genome.wustl.edu 37 9 79323754 79323754 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015225.2 -1 validated p.A1146T 0.926 247 0% 143 31.5% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL PRUNE2 158471 genome.wustl.edu 37 9 79326063 79326063 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015225.2 -1 validated p.A376V 0.998 73 0% 45 37.8% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL VPS13A 23230 genome.wustl.edu 37 9 79933486 79933486 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000419472 +1 known p.C17Y 0.007 254 0% 208 32.7% 3 33.3% - - - NULL VPS13A 23230 genome.wustl.edu 37 9 79952346 79952346 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033305.2 +1 reviewed p.L2091I 0.435 291 0% 188 35.1% 6 50% benign(0.069) tolerated(0.56) neutral(0.011) NULL VPS13A 23230 genome.wustl.edu 37 9 79974312 79974312 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033305.2 +1 reviewed p.R2700H 1.000 65 0% 60 28.3% 8 75% possibly_damaging(0.722) tolerated(0.1) deleterious(0.548) NULL GNA14 9630 genome.wustl.edu 37 9 80046280 80046280 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004297.3 -1 reviewed p.G184S 1.000 147 0% 68 33.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases GNA14 9630 genome.wustl.edu 37 9 80144029 80144029 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004297.3 -1 reviewed p.A89S 1.000 537 0% 281 27.4% 2 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_G-alpha,superfamily_Transducin (alpha subunit) insertion domain,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases CEP78 84131 genome.wustl.edu 37 9 80881400 80881400 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098802.1 +1 validated p.D631N 0.084 281 0% 155 25.2% 34 35.2% benign(0.009) tolerated(0.26) neutral(0.035) NULL TLE4 7091 genome.wustl.edu 37 9 82242327 82242327 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007005.3 +1 validated p.K118 1.000 394 0% 220 28.6% 0 - - - - HMMPfam_TLE_N TLE4 7091 genome.wustl.edu 37 9 82335194 82335194 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007005.3 +1 validated p.N608 1.000 90 0% 62 33.9% 3 0% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like TLE4 7091 genome.wustl.edu 37 9 82337458 82337458 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000376527 +1 known p.Q446* 1.000 137 0% 86 25.6% 5 0% - - - NULL RASEF 158158 genome.wustl.edu 37 9 85615856 85615856 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152573.2 -1 provisional p.S464 0.001 209 0% 101 31.7% 4 50% - - - NULL RASEF 158158 genome.wustl.edu 37 9 85622386 85622386 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152573.2 -1 provisional p.R332* 1.000 398 0.3% 256 31.6% 7 14.2% - - - NULL UBQLN1 29979 genome.wustl.edu 37 9 86294806 86294806 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013438.4 -1 reviewed p.L199I 1.000 391 0% 228 23.2% 112 48.2% probably_damaging(0.977) deleterious(0.01) deleterious(0.825) HMMSmart_SM00727 KIF27 55582 genome.wustl.edu 37 9 86451930 86451930 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017576.1 -1 provisional p.D1398N 0.184 199 0% 105 24.8% 0 - possibly_damaging(0.888) deleterious(0) deleterious(0.792) NULL NTRK2 4915 genome.wustl.edu 37 9 87366949 87366949 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006180.3 +1 reviewed p.V449I 1.000 124 0% 56 25% 1 0% benign(0) tolerated(0.65) neutral(0.003) NULL NAA35 60560 genome.wustl.edu 37 9 88593189 88593189 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024635.3 +1 validated p.A257V 1.000 284 0% 214 27.6% 16 43.7% benign(0.032) tolerated(0.34) neutral(0.025) NULL NAA35 60560 genome.wustl.edu 37 9 88628737 88628737 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024635.3 +1 validated p.R498H 1.000 253 0% 148 27% 32 37.5% possibly_damaging(0.682) deleterious(0) deleterious(0.688) NULL C9orf79 286234 genome.wustl.edu 37 9 90498906 90498906 + Splice_Site SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178828.4 +1 validated e2-1 0.074 58 0% 22 18.2% 0 - - - - - SHC3 53358 genome.wustl.edu 37 9 91686160 91686160 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016848.4 -1 validated p.A246V 1.000 103 0% 62 25.8% 2 50% possibly_damaging(0.643) deleterious(0) deleterious(0.670) HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like SEMA4D 10507 genome.wustl.edu 37 9 91993700 91993700 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006378.3 -1 validated p.I836 0.000 60 0% 36 38.9% 26 19.2% - - - NULL SEMA4D 10507 genome.wustl.edu 37 9 91994234 91994234 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006378.3 -1 validated p.L658 0.000 213 0% 117 22.2% 28 17.8% - - - NULL AUH 549 genome.wustl.edu 37 9 93983203 93983203 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001698.2 -1 reviewed p.L243I 0.994 257 0% 125 22.4% 15 26.6% benign(0.008) tolerated(1) - HMMPfam_ECH,superfamily_ClpP/crotonase IARS 3376 genome.wustl.edu 37 9 95022438 95022438 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002161.4 -1 reviewed p.A622 0.999 265 0% 154 12.3% 112 33% - - - HMMPfam_tRNA-synt_1,superfamily_SSF52374 ASPN 54829 genome.wustl.edu 37 9 95237024 95237025 + In_Frame_Ins INS - - TCA rs111419727 byFrequency TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017680.3 -1 validated p.52in_frame_insD 0.335:0.340 - - - - - - - - - superfamily_SSF52058 FAM22F 54754 genome.wustl.edu 37 9 97081294 97081294 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017561.1 -1 validated p.P575H 0.001 56 0% 22 27.3% 0 - probably_damaging(0.992) deleterious(0.03) deleterious(0.812) NULL FAM22F 54754 genome.wustl.edu 37 9 97081922 97081922 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000434357 -1 known p.A386T 0.306 229 0% 132 18.2% 1 0% - - - NULL C9orf3 84909 genome.wustl.edu 37 9 97730039 97730039 + Splice_Site SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032823.3 +1 provisional e7-1 1.000 233 0% 140 12.1% 0 - - - - - FANCC 2176 genome.wustl.edu 37 9 97873869 97873869 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000136.2 -1 reviewed p.G402V 1.000 102 0% 59 28.8% 9 22.2% probably_damaging(0.989) tolerated(0.06) deleterious(0.762) HMMPfam_Fanconi_C PTCH1 5727 genome.wustl.edu 37 9 98224213 98224213 + Silent SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000264.3 -1 reviewed p.G876 1.000 112 0.9% 74 32.4% 6 66.6% - - - HMMPfam_Patched ENSG00000248797 0 genome.wustl.edu 37 9 98231805 98231805 + RNA SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000512956 +1 known NULL 0.000 55 0% 32 21.9% 0 - - - - - PTCH1 5727 genome.wustl.edu 37 9 98239912 98239912 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000264.3 -1 reviewed p.V474I 1.000 170 0.6% 98 31.6% 9 55.5% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_Patched,superfamily_SSF82866 PTCH1 5727 genome.wustl.edu 37 9 98242313 98242313 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000264.3 -1 reviewed p.M335I 1.000 679 0.3% 353 26.9% 2 50% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_Patched C9orf102 375748 genome.wustl.edu 37 9 98691032 98691032 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001010895.2 +1 validated p.A557V 1.000 541 0% 401 26.9% 0 - possibly_damaging(0.647) tolerated(0.45) neutral(0.239) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases ZNF367 195828 genome.wustl.edu 37 9 99160587 99160587 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153695.3 -1 validated p.R144* 1.000 498 0% 297 31.3% 1 0% - - - NULL HABP4 22927 genome.wustl.edu 37 9 99227686 99227686 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014282.2 +1 validated p.G194S 0.962 599 0% 321 28.7% 4 50% benign(0) tolerated(1) - NULL HABP4 22927 genome.wustl.edu 37 9 99252311 99252311 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014282.2 +1 validated p.A411 0.762 100 0% 62 29% 8 75% - - - NULL CDC14B 8555 genome.wustl.edu 37 9 99285992 99285992 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033331.2 -1 reviewed p.T321M 0.993 135 0% 80 10% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II ZNF510 22869 genome.wustl.edu 37 9 99521161 99521161 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014930.1 -1 provisional p.S651R 1.000 564 0% 394 16.5% 13 30.7% possibly_damaging(0.923) deleterious(0) deleterious(0.817) superfamily_C2H2 and C2HC zinc fingers ENSG00000249385 0 genome.wustl.edu 37 9 99884267 99884267 + RNA SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000504063 -1 known NULL 0.001 127 0% 71 11.3% 0 - - - - - C9orf174 100499483 genome.wustl.edu 37 9 100076692 100076692 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020893.1 +1 predicted p.I342 0.604 51 0% 28 25% 0 - - - - NULL C9orf174 100499483 genome.wustl.edu 37 9 100124087 100124087 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020893.1 +1 predicted p.D1203G 0.034 72 1.4% 28 25% 1 0% benign(0.011) tolerated(0.96) neutral(0.001) NULL C9orf156 51531 genome.wustl.edu 37 9 100667130 100667130 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016481.3 -1 validated p.A404V 0.480 251 0% 147 24.5% 6 66.6% benign(0.35) tolerated(0.53) neutral(0.118) NULL HEMGN 55363 genome.wustl.edu 37 9 100692759 100692759 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018437.3 -1 validated p.E306 0.989 483 0.2% 295 26.8% 0 - - - - NULL ANP32B 10541 genome.wustl.edu 37 9 100760861 100760861 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006401.2 +1 validated p.I76 0.999 257 0% 173 27.7% 280 49.6% - - - superfamily_Outer arm dynein light chain 1 CORO2A 7464 genome.wustl.edu 37 9 100919841 100919841 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003389.3 -1 reviewed p.S34 0.998 123 0.8% 64 31.2% 2 0% - - - superfamily_WD40 repeat-like,HMMPfam_DUF1899 GABBR2 9568 genome.wustl.edu 37 9 101304165 101304165 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005458.7 -1 reviewed p.R207M 1.000 166 0% 88 15.9% 0 - possibly_damaging(0.563) tolerated(0.13) neutral(0.445) HMMPfam_ANF_receptor,superfamily_SSF53822 COL15A1 1306 genome.wustl.edu 37 9 101765797 101765797 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001855.3 +1 reviewed p.E376D 0.800 87 0% 42 23.8% 7 0% possibly_damaging(0.495) deleterious(0) deleterious(0.610) NULL COL15A1 1306 genome.wustl.edu 37 9 101812038 101812038 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001855.3 +1 reviewed p.G954* 1.000 209 0% 100 32% 28 0% - - - superfamily_C-type_lectin_fold COL15A1 1306 genome.wustl.edu 37 9 101829295 101829295 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001855.3 +1 reviewed p.L1261 1.000 474 0% 265 29.1% 41 0% - - - HMMPfam_Endostatin,superfamily_C-type_lectin_fold COL15A1 1306 genome.wustl.edu 37 9 101832067 101832067 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001855.3 +1 reviewed p.L1356 1.000 487 0% 273 34.4% 23 4.3% - - - HMMPfam_Endostatin,superfamily_C-type_lectin_fold COL15A1 1306 genome.wustl.edu 37 9 101832124 101832124 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001855.3 +1 reviewed p.V1375I 1.000 471 0.2% 309 13.6% 29 0% benign(0.216) - - HMMPfam_Endostatin,superfamily_C-type_lectin_fold SEC61B 10952 genome.wustl.edu 37 9 101992659 101992659 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006808.2 +1 reviewed p.A82T 1.000 484 0.2% 273 26.7% 364 32.6% possibly_damaging(0.782) deleterious(0.01) deleterious(0.699) HMMPfam_Sec61_beta KRT8P11 347265 genome.wustl.edu 37 9 102068692 102068692 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000409686 +1 known p.S433 0.490 73 0% 30 36.7% 0 - - - - NULL NR4A3 8013 genome.wustl.edu 37 9 102590439 102590439 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173200.1 +1 reviewed p.T50A 1.000 168 0% 61 19.7% 1 0% benign(0.054) deleterious(0.02) neutral(0.387) NULL NR4A3 8013 genome.wustl.edu 37 9 102595028 102595028 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173200.1 +1 reviewed p.D348N 1.000 159 0% 110 25.5% 0 - probably_damaging(0.995) tolerated(0.16) deleterious(0.517) HMMPfam_zf-C4,HMMSmart_ZnF_C4,superfamily_SSF57716 TEX10 54881 genome.wustl.edu 37 9 103066077 103066077 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017746.3 -1 validated p.R838Q 1.000 259 0.4% 170 29.4% 28 14.2% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL TEX10 54881 genome.wustl.edu 37 9 103082549 103082549 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017746.3 -1 validated p.E734* 1.000 145 0% 104 30.8% 24 12.5% - - - NULL TEX10 54881 genome.wustl.edu 37 9 103109029 103109029 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017746.3 -1 validated p.Q280H 1.000 441 0% 245 19.2% 14 7.1% benign(0.059) tolerated(0.11) neutral(0.276) NULL MSANTD3 91283 genome.wustl.edu 37 9 103204508 103204508 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080655.1 +1 predicted p.S96 0.403 135 0% 65 27.7% 58 46.5% - - - NULL MSANTD3 91283 genome.wustl.edu 37 9 103213122 103213122 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080655.1 +1 predicted p.E234D 1.000 248 0% 147 32% 57 45.6% possibly_damaging(0.945) tolerated(0.44) neutral(0.402) NULL BAAT 570 genome.wustl.edu 37 9 104125209 104125209 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001127610.1 -1 reviewed p.A253D 0.976 348 0% 258 12% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_BAAT_C,superfamily_SSF53474 MRPL50 54534 genome.wustl.edu 37 9 104152942 104152942 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019051.2 -1 reviewed p.R95C 0.002 429 0% 298 26.5% 87 33.3% probably_damaging(0.982) tolerated(0.05) deleterious(0.772) HMMPfam_Ribosomal_S39 ZNF189 7743 genome.wustl.edu 37 9 104170693 104170693 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003452.2 +1 validated p.V215M 0.809 665 0% 436 31.9% 14 50% probably_damaging(0.983) tolerated(0.22) deleterious(0.471) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers C9orf125 84302 genome.wustl.edu 37 9 104238299 104238299 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032342.1 -1 provisional p.G359D 1.000 141 0% 85 21.2% 0 - probably_damaging(1) tolerated(0.11) deleterious(0.772) NULL C9orf125 84302 genome.wustl.edu 37 9 104239329 104239329 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032342.1 -1 provisional p.R16W 0.996 43 0% 30 36.7% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL RNF20 56254 genome.wustl.edu 37 9 104314443 104314443 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019592.5 +1 reviewed p.R477C 1.000 350 0% 218 27.1% 25 64% unknown(0) deleterious(0) - NULL RNF20 56254 genome.wustl.edu 37 9 104319831 104319831 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019592.5 +1 reviewed p.E779* 1.000 260 0% 144 27.8% 21 4.7% - - - NULL RNF20 56254 genome.wustl.edu 37 9 104323512 104323512 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019592.5 +1 reviewed p.Q883H 1.000 418 0.2% 332 24.7% 19 0% possibly_damaging(0.868) deleterious(0.03) deleterious(0.702) NULL RNF20 56254 genome.wustl.edu 37 9 104324596 104324596 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019592.5 +1 reviewed p.V940 0.981 284 0% 257 13.6% 32 21.8% - - - HMMSmart_SM00184,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_RING/U-box GRIN3A 116443 genome.wustl.edu 37 9 104375805 104375805 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133445.2 -1 reviewed p.Y873 0.885 96 0% 47 31.9% 0 - - - - HMMPfam_Lig_chan,HMMSmart_PBPe,superfamily_SSF53850 GRIN3A 116443 genome.wustl.edu 37 9 104433075 104433075 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133445.2 -1 reviewed p.G540D 1.000 198 0% 143 25.9% 0 - probably_damaging(1) tolerated(0.3) deleterious(0.528) superfamily_SSF53822,superfamily_SSF53850 SMC2 10592 genome.wustl.edu 37 9 106862483 106862483 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001042550.1 +1 validated p.T197M 1.000 83 0% 83 28.9% 1 100% probably_damaging(0.993) tolerated(0.13) deleterious(0.703) HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases OR13C4 138804 genome.wustl.edu 37 9 107289098 107289098 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001919.1 -1 provisional p.R131 0.996 475 0% 265 26% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR13C3 138803 genome.wustl.edu 37 9 107298248 107298248 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001961.1 -1 provisional p.G283S 0.996 446 0% 307 27.4% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_7tm_1,superfamily_SSF81321 OR13C3 138803 genome.wustl.edu 37 9 107298940 107298940 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001961.1 -1 provisional p.K52M 0.002 300 0% 204 18.1% 0 - probably_damaging(0.966) deleterious(0.05) deleterious(0.753) superfamily_SSF81321 OR13C5 138799 genome.wustl.edu 37 9 107361026 107361026 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004482.1 -1 provisional p.L223 0.000 494 0.2% 344 27.9% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR13C2 392376 genome.wustl.edu 37 9 107367842 107367842 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004481.1 -1 provisional p.L23I 0.140 677 0% 583 23.7% 0 - probably_damaging(0.976) tolerated(0.08) deleterious(0.718) superfamily_Family A G protein-coupled receptor-like OR13D1 286365 genome.wustl.edu 37 9 107457138 107457138 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004484.1 +1 provisional p.L146I 0.923 545 0% 376 28.2% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_7tm_1,superfamily_SSF81321 SLC44A1 23446 genome.wustl.edu 37 9 108125280 108125280 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080546.3 +1 validated p.G360D 1.000 603 0% 320 11.9% 89 22.4% possibly_damaging(0.897) deleterious(0.01) deleterious(0.760) HMMPfam_DUF580 TAL2 6887 genome.wustl.edu 37 9 108425083 108425083 + Silent SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005421.2 +1 reviewed p.G102 0.662 76 0% 59 15.3% 0 - - - - NULL ZNF462 58499 genome.wustl.edu 37 9 109687141 109687141 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021224.4 +1 validated p.T316 0.270 387 0% 228 27.6% 1 0% - - - NULL ZNF462 58499 genome.wustl.edu 37 9 109691327 109691327 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021224.4 +1 validated p.L1712M 0.998 110 0.9% 51 21.6% 2 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00355,superfamily_beta-sandwich domain of Sec23/24 PTPN3 5774 genome.wustl.edu 37 9 112144613 112144613 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002829.3 -1 reviewed p.V833M 0.936 76 0% 53 37.7% 46 32.6% benign(0.001) tolerated(0.12) neutral(0.261) HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 PTPN3 5774 genome.wustl.edu 37 9 112219590 112219590 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002829.3 -1 reviewed p.D76 0.935 306 0% 142 26.1% 19 68.4% - - - HMMPfam_FERM_N,HMMSmart_B41,superfamily_SSF54236 PALM2 114299 genome.wustl.edu 37 9 112705112 112705112 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_053016.5 +1 validated p.R217C 1.000 166 0% 93 25.8% 3 100% probably_damaging(0.959) tolerated(0.06) deleterious(0.725) HMMPfam_Paralemmin PALM2-AKAP2 445815 genome.wustl.edu 37 9 112899299 112899299 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007203.4 +1 validated p.S492L 1.000 122 0% 66 25.8% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PALM2-AKAP2 445815 genome.wustl.edu 37 9 112899774 112899774 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007203.4 +1 validated p.S650 0.018 211 0% 93 10.8% 5 0% - - - NULL C9orf152 401546 genome.wustl.edu 37 9 112963591 112963591 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001012993.2 -1 validated p.T119 0.937 387 0% 215 29.3% 55 43.6% - - - NULL SVEP1 79987 genome.wustl.edu 37 9 113168736 113168736 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153366.3 -1 validated p.A3048 1.000 139 0% 94 27.7% 1 0% - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain SVEP1 79987 genome.wustl.edu 37 9 113212500 113212500 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153366.3 -1 validated p.N1314 1.000 509 0% 301 26.6% 1 0% - - - HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_CA,superfamily_EGF/Laminin KIAA0368 23392 genome.wustl.edu 37 9 114134096 114134096 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080398.1 -1 provisional p.G1692 0.996 513 0.2% 342 28.4% 93 39.7% - - - superfamily_ARM repeat KIAA0368 23392 genome.wustl.edu 37 9 114136277 114136277 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080398.1 -1 provisional p.C1562 1.000 669 0.1% 431 25.3% 106 47.1% - - - superfamily_ARM repeat KIAA0368 23392 genome.wustl.edu 37 9 114140973 114140973 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080398.1 -1 provisional p.A1459T 1.000 240 0.4% 141 35.5% 107 47.6% benign(0.006) tolerated(0.28) neutral(0.032) superfamily_ARM repeat KIAA0368 23392 genome.wustl.edu 37 9 114184213 114184213 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080398.1 -1 provisional p.S659 0.001 137 0% 117 32.5% 45 55.5% - - - superfamily_ARM repeat C9orf84 158401 genome.wustl.edu 37 9 114456192 114456192 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173521.3 -1 validated p.P1054S 1.000 183 0% 154 16.2% 0 - probably_damaging(1) tolerated(0.11) deleterious(0.772) NULL PTBP3 9991 genome.wustl.edu 37 9 114986255 114986255 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005156.5 -1 validated p.R512H 1.000 424 0% 317 27.1% 60 35% benign(0.011) tolerated(0.4) neutral(0.017) HMMSmart_SM00360,superfamily_RNA-binding domain RBD PTBP3 9991 genome.wustl.edu 37 9 115038150 115038150 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005156.5 -1 validated p.L88I 1.000 261 0% 179 25.1% 13 23% benign(0.009) tolerated(0.66) neutral(0.003) HMMSmart_SM00360,superfamily_RNA-binding domain RBD C9orf80 58493 genome.wustl.edu 37 9 115451892 115451892 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021218.1 -1 provisional p.A45V 0.469 157 0% 118 26.3% 41 48.7% benign(0.007) tolerated(0.12) neutral(0.261) NULL ZFP37 7539 genome.wustl.edu 37 9 115805918 115805918 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003408.1 -1 provisional p.G327E 1.000 474 0% 305 31.1% 2 50% probably_damaging(1) tolerated(0.13) deleterious(0.752) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 FKBP15 23307 genome.wustl.edu 37 9 115962134 115962134 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015258.1 -1 validated p.A203V 1.000 61 0% 40 10% 18 0% probably_damaging(1) tolerated(0.05) deleterious(0.845) HMMPfam_FKBP_C,superfamily_FKBP-like ALAD 210 genome.wustl.edu 37 9 116150638 116150638 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000031.5 -1 reviewed p.A312D 1.000 90 0% 44 20.5% 31 45.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ALAD,superfamily_SSF51569 RGS3 5998 genome.wustl.edu 37 9 116303619 116303619 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017790.3 +1 reviewed p.S574Y 1.000 474 0% 227 15% 5 40% possibly_damaging(0.708) deleterious(0.02) deleterious(0.639) NULL ZNF618 114991 genome.wustl.edu 37 9 116812207 116812207 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133374.2 +1 validated p.Y782 0.580 191 0.5% 91 12.1% 5 0% - - - HMMPfam_hATC AKNA 80709 genome.wustl.edu 37 9 117113202 117113202 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030767.4 -1 validated p.A1053V 0.001 41 0% 20 30% 14 28.5% probably_damaging(0.999) tolerated(0.24) deleterious(0.528) NULL DFNB31 25861 genome.wustl.edu 37 9 117168652 117168652 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015404.3 -1 reviewed p.A740V 1.000 77 0% 43 16.3% 13 7.6% possibly_damaging(0.488) deleterious(0.02) deleterious(0.545) NULL DFNB31 25861 genome.wustl.edu 37 9 117186643 117186643 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015404.3 -1 reviewed p.L463M 0.996 89 0% 44 20.5% 10 50% possibly_damaging(0.932) deleterious(0.03) deleterious(0.743) NULL TNFSF15 9966 genome.wustl.edu 37 9 117568136 117568136 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005118.2 -1 reviewed p.Y53H 0.991 65 1.5% 35 25.7% 0 - possibly_damaging(0.905) deleterious(0) deleterious(0.804) NULL TNC 3371 genome.wustl.edu 37 9 117783544 117783544 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002160.2 -1 validated p.G2166 0.239 87 0% 35 34.3% 64 12.5% - - - HMMPfam_Fibrinogen_C,HMMSmart_FBG,superfamily_Fibrinogen_a/b/g_C TNC 3371 genome.wustl.edu 37 9 117808938 117808938 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002160.2 -1 validated p.L1626I 1.000 204 0% 164 26.2% 17 11.7% possibly_damaging(0.796) tolerated(0.25) neutral(0.336) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like TNC 3371 genome.wustl.edu 37 9 117848618 117848618 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002160.2 -1 validated p.D464E 1.000 322 0% 182 30.2% 17 11.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2 PAPPA 5069 genome.wustl.edu 37 9 119129943 119129943 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002581.3 +1 reviewed p.S1505 0.613 77 0% 48 35.4% 0 - - - - superfamily_SSF55486 PAPPA 5069 genome.wustl.edu 37 9 119144734 119144734 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002581.3 +1 reviewed p.G1580S 1.000 289 0% 195 28.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Notch,HMMSmart_NL,superfamily_SSF55486 TRIM32 22954 genome.wustl.edu 37 9 119460400 119460400 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001099679.1 +1 reviewed p.D127N 0.458 137 0% 50 36% 24 33.3% benign(0.011) tolerated(0.21) neutral(0.044) HMMSmart_BBOX TRIM32 22954 genome.wustl.edu 37 9 119460897 119460897 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001099679.1 +1 reviewed p.G292 0.756 165 0% 88 11.4% 20 20% - - - NULL TRIM32 22954 genome.wustl.edu 37 9 119461766 119461766 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001099679.1 +1 reviewed p.C582Y 1.000 204 0% 101 16.8% 29 17.2% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_NHL,superfamily_SSF101898 TRIM32 22954 genome.wustl.edu 37 9 119461829 119461829 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001099679.1 +1 reviewed p.P603H 1.000 230 0% 125 24% 21 57.1% probably_damaging(1) tolerated(0.16) deleterious(0.559) superfamily_SSF101898 ASTN2 23245 genome.wustl.edu 37 9 119626004 119626004 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198187.3 -1 reviewed p.A633V 1.000 139 0% 60 31.7% 1 100% possibly_damaging(0.496) tolerated(0.12) neutral(0.426) NULL TLR4 7099 genome.wustl.edu 37 9 120475328 120475328 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138554.3 +1 reviewed p.T308A 0.010 302 0% 232 28.4% 5 20% benign(0) tolerated(1) - superfamily_L domain-like TLR4 7099 genome.wustl.edu 37 9 120476680 120476680 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138554.3 +1 reviewed p.Q758H 1.000 162 0% 109 24.8% 9 22.2% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_TIR,HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain DBC1 1620 genome.wustl.edu 37 9 121929864 121929864 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014618.2 -1 validated p.S595N 1.000 206 0% 99 27.3% 0 - possibly_damaging(0.454) tolerated(0.06) deleterious(0.471) NULL CDK5RAP2 55755 genome.wustl.edu 37 9 123156812 123156812 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000345313 -1 known e35-1 1.000 137 0% 54 29.6% 30 43.3% - - - - CDK5RAP2 55755 genome.wustl.edu 37 9 123215893 123215893 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018249.4 -1 reviewed p.T878 0.005 382 0% 236 25% 19 57.8% - - - NULL CDK5RAP2 55755 genome.wustl.edu 37 9 123232432 123232432 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018249.4 -1 reviewed p.R642Q 0.001 69 1.4% 45 22.2% 10 70% benign(0.012) tolerated(0.44) neutral(0.013) NULL CDK5RAP2 55755 genome.wustl.edu 37 9 123308040 123308040 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018249.4 -1 reviewed p.S112N 1.000 196 0% 126 25.4% 7 14.2% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Microtub_assoc PSMD5 5711 genome.wustl.edu 37 9 123594214 123594214 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005047.2 -1 reviewed p.I110V 1.000 295 0% 223 29.1% 30 40% benign(0.004) tolerated(1) - superfamily_ARM-type_fold,HMMPfam_Proteasom_PSMB C5 727 genome.wustl.edu 37 9 123731354 123731354 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001735.2 -1 reviewed p.I1402T 0.877 400 0% 269 24.9% 0 - possibly_damaging(0.914) deleterious(0.01) deleterious(0.772) superfamily_AM_receptor_bind CNTRL 11064 genome.wustl.edu 37 9 123903678 123903678 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007018.4 +1 reviewed p.V835I 0.997 301 0% 215 22.8% 2 50% benign(0.001) tolerated(0.19) neutral(0.050) superfamily_Prefoldin CNTRL 11064 genome.wustl.edu 37 9 123914958 123914958 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007018.4 +1 reviewed p.R1387C 1.000 223 0% 195 29.7% 5 60% probably_damaging(0.986) deleterious(0.02) deleterious(0.818) NULL CNTRL 11064 genome.wustl.edu 37 9 123920336 123920336 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007018.4 +1 reviewed p.S1571 0.037 339 0% 267 24.7% 5 40% - - - NULL GSN 2934 genome.wustl.edu 37 9 124076247 124076247 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000177.4 +1 reviewed p.T284 0.000 71 0% 27 22.2% 121 18.1% - - - superfamily_Actin depolymerizing proteins TTLL11 158135 genome.wustl.edu 37 9 124752050 124752050 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001139442.1 -1 validated e4-1 1.000 387 0% 209 18.7% 0 - - - - - NDUFA8 4702 genome.wustl.edu 37 9 124914671 124914671 + Missense_Mutation SNP G G A rs190678946 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014222.2 -1 reviewed p.A23V 1.000 194 0% 132 23.5% 58 13.7% possibly_damaging(0.572) tolerated(0.1) deleterious(0.482) NULL PTGS1 5742 genome.wustl.edu 37 9 125145787 125145787 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000962.2 +1 reviewed e8-1 1.000 56 0% 24 16.7% 0 - - - - - PTGS1 5742 genome.wustl.edu 37 9 125152496 125152496 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000962.2 +1 reviewed p.M439T 0.214 42 0% 26 30.8% 6 0% benign(0) tolerated(0.46) neutral(0.012) HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases OR1N2 138882 genome.wustl.edu 37 9 125315898 125315898 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004457.1 +1 provisional p.S150 0.001 622 0.2% 436 25.9% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR1L1 26737 genome.wustl.edu 37 9 125424190 125424190 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005236.3 +1 validated p.L116M 0.003 842 0.1% 487 27.1% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_7tm_1,superfamily_SSF81321 PDCL 5082 genome.wustl.edu 37 9 125588973 125588973 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005388.3 -1 reviewed p.R32* 0.000 130 0% 57 42.1% 14 64.2% - - - NULL RC3H2 54542 genome.wustl.edu 37 9 125621235 125621235 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001100588.1 -1 validated p.R666* 1.000 320 0% 175 31.4% 7 14.2% - - - NULL RABGAP1 23637 genome.wustl.edu 37 9 125748674 125748674 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012197.3 +1 validated p.P189L 1.000 526 0% 317 19.2% 5 20% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like RABGAP1 23637 genome.wustl.edu 37 9 125835945 125835945 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012197.3 +1 validated p.R700C 1.000 630 0% 376 31.1% 11 36.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p CRB2 286204 genome.wustl.edu 37 9 126125151 126125151 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173689.5 +1 validated p.V34 0.000 57 0% 22 45.5% 0 - - - - NULL LHX2 9355 genome.wustl.edu 37 9 126794938 126794938 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000446480 +1 known p.P397S 0.934 92 0% 50 28% 1 0% - - - NULL PSMB7 5695 genome.wustl.edu 37 9 127176280 127176280 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002799.2 -1 reviewed p.G54V 1.000 78 1.3% 56 10.7% 244 15.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Proteasome,PatternScan_PROTEASOME_B,superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) OLFML2A 169611 genome.wustl.edu 37 9 127572218 127572218 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182487.2 +1 validated p.V496M 1.000 98 0% 39 25.6% 2 0% probably_damaging(0.994) tolerated(0.08) deleterious(0.752) HMMPfam_OLF,HMMSmart_SM00284 WDR38 401551 genome.wustl.edu 37 9 127619674 127619674 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001045476.1 +1 provisional p.C267Y 0.942 87 0% 36 36.1% 2 0% probably_damaging(0.996) tolerated(0.48) deleterious(0.472) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 GOLGA1 2800 genome.wustl.edu 37 9 127651789 127651789 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002077.3 -1 reviewed p.D508 0.000 804 0.1% 407 29.2% 11 54.5% - - - NULL GOLGA1 2800 genome.wustl.edu 37 9 127652717 127652717 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002077.3 -1 reviewed p.A483V 1.000 376 0% 153 28.8% 17 23.5% probably_damaging(0.989) tolerated(0.25) deleterious(0.476) NULL GOLGA1 2800 genome.wustl.edu 37 9 127660869 127660869 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002077.3 -1 reviewed p.R456C 0.235 239 0% 137 24.1% 2 50% benign(0.004) tolerated(0.07) neutral(0.319) NULL HSPA5 3309 genome.wustl.edu 37 9 128001740 128001740 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005347.3 -1 validated p.T189P 1.000 129 0% 91 28.6% 644 47% benign(0.352) deleterious(0) deleterious(0.556) HMMPfam_HSP70,superfamily_Actin-like ATPase domain GAPVD1 26130 genome.wustl.edu 37 9 128086183 128086183 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015635.2 +1 validated p.Q613H 1.000 190 0% 106 22.6% 12 33.3% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL GAPVD1 26130 genome.wustl.edu 37 9 128099345 128099345 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015635.2 +1 validated p.A853V 1.000 184 0% 88 23.9% 12 58.3% probably_damaging(0.979) tolerated(0.43) neutral(0.435) NULL GAPVD1 26130 genome.wustl.edu 37 9 128118094 128118094 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015635.2 +1 validated p.L1337R 1.000 183 0% 110 15.5% 27 14.8% benign(0.233) tolerated(0.35) neutral(0.044) superfamily_SSF109993 PBX3 5090 genome.wustl.edu 37 9 128728314 128728314 + RNA SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NR_024122.1 +1 validated NULL 1.000 223 0% 101 29.7% 0 - - - - - ZBTB34 403341 genome.wustl.edu 37 9 129642865 129642865 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001099270.1 +1 validated p.R392Q 1.000 58 0% 24 16.7% 5 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers RALGPS1 9649 genome.wustl.edu 37 9 129831610 129831610 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014636.1 +1 provisional p.K195N 1.000 313 0% 210 11% 1 0% possibly_damaging(0.804) tolerated(0.15) deleterious(0.543) HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF ANGPTL2 23452 genome.wustl.edu 37 9 129853995 129853995 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012098.2 -1 reviewed p.N412 0.033 648 0% 309 26.9% 8 0% - - - HMMPfam_Fibrinogen_C,HMMSmart_FBG,superfamily_Fibrinogen_a/b/g_C ZNF79 7633 genome.wustl.edu 37 9 130191132 130191132 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007135.2 +1 validated p.A13V 0.000 113 0% 62 11.3% 8 0% benign(0) tolerated(0.07) neutral(0.319) NULL ZNF79 7633 genome.wustl.edu 37 9 130207086 130207086 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007135.2 +1 validated p.A369 1.000 394 0% 221 27.6% 5 60% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 FAM129B 64855 genome.wustl.edu 37 9 130293979 130293979 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022833.2 -1 validated p.R45H 1.000 87 0% 38 36.8% 113 43.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ST6GALNAC6 30815 genome.wustl.edu 37 9 130649821 130649821 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013443.3 -1 provisional p.A252T 1.000 20 0% 11 54.5% 16 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_transf_29 DPM2 8818 genome.wustl.edu 37 9 130698804 130698804 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000373110 -1 known p.P75H 0.092 40 2.5% 23 30.4% 0 - benign(0.073) deleterious(0.01) neutral(0.411) NULL ODF2 4957 genome.wustl.edu 37 9 131256998 131256998 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153437.1 +1 reviewed p.R635 0.993 96 0% 36 33.3% 1 0% - - - NULL SPTAN1 6709 genome.wustl.edu 37 9 131329152 131329152 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130438.1 +1 validated p.R45* 1.000 254 0.4% 130 34.6% 11 0% - - - HMMPfam_Spectrin,superfamily_Spectrin SPTAN1 6709 genome.wustl.edu 37 9 131346611 131346611 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130438.1 +1 validated p.G748 0.999 171 0% 110 33.6% 27 77.7% - - - HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin SPTAN1 6709 genome.wustl.edu 37 9 131367443 131367443 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130438.1 +1 validated p.A1284T 1.000 152 0% 104 41.3% 51 9.8% possibly_damaging(0.948) deleterious(0.02) deleterious(0.774) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin SPTAN1 6709 genome.wustl.edu 37 9 131371247 131371247 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130438.1 +1 validated p.V1529D 1.000 277 0.4% 158 27.8% 76 71% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin SPTAN1 6709 genome.wustl.edu 37 9 131388167 131388167 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130438.1 +1 validated p.H2063 0.945 160 0% 78 29.5% 118 5.9% - - - HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin SET 6418 genome.wustl.edu 37 9 131455936 131455936 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001122821.1 +1 validated p.S184I 1.000 75 0% 43 25.6% 762 48.8% possibly_damaging(0.459) tolerated(0.11) neutral(0.422) HMMPfam_NAP ZER1 10444 genome.wustl.edu 37 9 131497695 131497695 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006336.2 -1 provisional p.I686 1.000 37 0% 15 40% 35 11.4% - - - superfamily_ARM-type_fold ZER1 10444 genome.wustl.edu 37 9 131515546 131515546 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006336.2 -1 provisional p.A215S 0.987 23 0% 13 30.8% 15 6.6% benign(0) tolerated(0.44) neutral(0.013) superfamily_SSF52047 ZER1 10444 genome.wustl.edu 37 9 131515712 131515712 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006336.2 -1 provisional p.N159 1.000 59 0% 34 35.3% 15 73.3% - - - superfamily_SSF52047 TBC1D13 54662 genome.wustl.edu 37 9 131550664 131550664 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018201.3 +1 validated p.K25 1.000 123 0% 71 26.8% 14 50% - - - superfamily_RabGAP_TBC NUP188 23511 genome.wustl.edu 37 9 131721110 131721110 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015354.1 +1 validated p.T134 0.994 226 0.4% 108 25.9% 17 41.1% - - - HMMPfam_Nup188 NUP188 23511 genome.wustl.edu 37 9 131752494 131752494 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015354.1 +1 validated p.R877C 1.000 418 0% 261 29.1% 34 17.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Nup188 SH3GLB2 56904 genome.wustl.edu 37 9 131777084 131777084 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020145.2 -1 provisional p.R145H 1.000 156 0% 84 35.7% 32 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_BAR,HMMSmart_SM00721 C9orf78 51759 genome.wustl.edu 37 9 132591525 132591525 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016520.2 -1 validated p.R246Q 0.999 59 0% 32 40.6% 110 55.4% probably_damaging(0.998) tolerated(0.46) deleterious(0.486) NULL USP20 10868 genome.wustl.edu 37 9 132637029 132637029 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001008563.3 +1 validated p.A639T 1.000 45 0% 26 50% 13 46.1% possibly_damaging(0.924) deleterious(0.02) deleterious(0.756) HMMPfam_UCH,PatternScan_UCH_2_2,superfamily_SSF54001 FNBP1 23048 genome.wustl.edu 37 9 132662307 132662307 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015033.2 -1 reviewed p.E542K 1.000 336 0% 192 25.5% 21 33.3% benign(0.408) tolerated(0.09) neutral(0.428) superfamily_SH3-domain FUBP3 8939 genome.wustl.edu 37 9 133506171 133506171 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003934.1 +1 validated p.V425A 1.000 41 0% 27 37% 65 43% possibly_damaging(0.793) deleterious(0) deleterious(0.742) HMMSmart_SM00322,superfamily_Eukaryotic type KH-domain (KH-domain type I) ABL1 25 genome.wustl.edu 37 9 133730285 133730285 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007313.2 +1 reviewed p.T136 0.018 237 0.8% 167 24.6% 28 35.7% - - - HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain ABL1 25 genome.wustl.edu 37 9 133755537 133755537 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007313.2 +1 reviewed p.I521 0.995 113 0% 55 25.5% 34 58.8% - - - NULL ABL1 25 genome.wustl.edu 37 9 133760748 133760748 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007313.2 +1 reviewed p.S1043N 0.998 73 0% 25 40% 46 56.5% benign(0.106) tolerated(0.24) neutral(0.045) HMMPfam_F_actin_bind,HMMSmart_SM00808 NUP214 8021 genome.wustl.edu 37 9 134064444 134064444 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005085.2 +1 reviewed p.S1167Y 0.243 384 0% 187 34.8% 23 60.8% unknown(0) - - NULL PRRC2B 84726 genome.wustl.edu 37 9 134346181 134346181 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013318.3 +1 validated p.L640 1.000 47 0% 23 30.4% 36 52.7% - - - NULL PRRC2B 84726 genome.wustl.edu 37 9 134357931 134357931 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000451855 +1 known p.K452E 1.000 141 0% 43 32.6% 34 50% - - - NULL PRRC2B 84726 genome.wustl.edu 37 9 134360387 134360387 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013318.3 +1 validated p.S1873I 1.000 107 0% 63 34.9% 55 45.4% probably_damaging(0.982) deleterious(0.01) deleterious(0.832) NULL SETX 23064 genome.wustl.edu 37 9 135205029 135205029 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015046.5 -1 reviewed p.V652 0.000 480 0% 255 10.2% 2 0% - - - NULL TTF1 7270 genome.wustl.edu 37 9 135251547 135251547 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007344.2 -1 validated p.D825N 1.000 140 0% 89 34.8% 16 37.5% probably_damaging(0.995) tolerated(0.1) deleterious(0.744) NULL GTF3C4 9329 genome.wustl.edu 37 9 135553406 135553406 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012204.2 +1 validated p.A134T 1.000 137 0% 61 31.1% 13 38.4% possibly_damaging(0.815) deleterious(0) deleterious(0.752) NULL TSC1 7248 genome.wustl.edu 37 9 135781379 135781379 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000368.4 -1 reviewed p.A529V 0.003 60 0% 34 41.2% 4 50% benign(0.001) tolerated(0.52) neutral(0.009) HMMPfam_Hamartin GBGT1 26301 genome.wustl.edu 37 9 136029224 136029224 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021996.4 -1 validated p.G262W 0.396 41 0% 19 21.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_transf_6,superfamily_Nucleotide-diphospho-sugar transferases SURF6 6838 genome.wustl.edu 37 9 136198948 136198948 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006753.4 -1 reviewed p.K281N 0.542 69 0% 42 28.6% 24 37.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_SURF6 MED22 6837 genome.wustl.edu 37 9 136211069 136211069 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133640.3 -1 reviewed p.L108 1.000 122 0% 51 35.3% 20 45% - - - HMMPfam_SURF5 MED22 6837 genome.wustl.edu 37 9 136212099 136212099 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133640.3 -1 reviewed p.D44 0.986 39 0% 20 40% 14 21.4% - - - HMMPfam_SURF5 C9orf96 169436 genome.wustl.edu 37 9 136249664 136249664 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153710.3 +1 validated p.A67T 0.824 186 0% 119 26.9% 1 100% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase COL5A1 1289 genome.wustl.edu 37 9 137697049 137697049 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000093.3 +1 reviewed p.P1083S 1.000 54 0% 18 27.8% 15 0% unknown(0) tolerated(0.07) - HMMPfam_Collagen CAMSAP1 157922 genome.wustl.edu 37 9 138714642 138714642 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015447.3 -1 validated p.S622N 0.002 93 0% 57 21.1% 6 33.3% benign(0.004) deleterious(0.04) neutral(0.349) NULL QSOX2 169714 genome.wustl.edu 37 9 139118663 139118663 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181701.3 -1 validated p.A129V 0.935 188 0% 88 19.3% 5 60% unknown(0) tolerated(0.09) - superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin SDCCAG3 10807 genome.wustl.edu 37 9 139298517 139298517 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001039707.1 -1 validated p.A400S 0.000 59 0% 24 20.8% 68 25% benign(0.001) tolerated(0.58) neutral(0.005) NULL SEC16A 9919 genome.wustl.edu 37 9 139357582 139357582 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014866.1 -1 validated p.T1550 0.876 87 1.1% 39 30.8% 63 47.6% - - - NULL SEC16A 9919 genome.wustl.edu 37 9 139361443 139361443 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014866.1 -1 validated p.A1299T 0.000 20 0% 13 46.2% 68 45.5% benign(0.004) tolerated(0.15) neutral(0.241) NULL PNPLA7 375775 genome.wustl.edu 37 9 140374830 140374830 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098537.1 -1 validated p.R838 1.000 43 0% 23 26.1% 6 16.6% - - - NULL PNPLA7 375775 genome.wustl.edu 37 9 140400154 140400154 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098537.1 -1 validated p.S462N 0.000 82 0% 32 28.1% 6 50% benign(0) tolerated(0.52) neutral(0.009) NULL EHMT1 79813 genome.wustl.edu 37 9 140705941 140705941 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000460843 +1 known p.A914V 0.999 52 0% 24 16.7% 38 47.3% probably_damaging(0.954) deleterious(0.03) deleterious(0.762) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat CACNA1B 774 genome.wustl.edu 37 9 140901290 140901290 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000718.2 +1 validated p.G682 0.996 37 0% 27 25.9% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels DIP2C 22982 genome.wustl.edu 37 10 408595 408595 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014974.2 -1 reviewed p.L877M 0.994 75 0% 31 35.5% 7 85.7% probably_damaging(0.989) deleterious(0.01) deleterious(0.845) superfamily_SSF56801 DIP2C 22982 genome.wustl.edu 37 10 454921 454921 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014974.2 -1 reviewed p.S365I 1.000 84 0% 39 38.5% 1 100% benign(0.013) tolerated(0.07) neutral(0.320) HMMPfam_AMP-binding,superfamily_SSF56801 DIP2C 22982 genome.wustl.edu 37 10 518420 518420 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014974.2 -1 reviewed p.R76H 1.000 56 0% 35 20% 1 0% possibly_damaging(0.925) deleterious(0.01) deleterious(0.779) HMMPfam_DMAP_binding IDI2 91734 genome.wustl.edu 37 10 1065490 1065490 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033261.2 -1 provisional p.P217 0.001 154 0% 77 40.3% 11 45.4% - - - NULL IDI2-AS1 55853 genome.wustl.edu 37 10 1068614 1068614 + RNA SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NR_024628.1 +1 validated NULL 0.051 125 0% 55 23.6% 0 - - - - - ADARB2 105 genome.wustl.edu 37 10 1421325 1421325 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018702.2 -1 reviewed p.A44D 1.000 164 0.6% 83 21.7% 0 - possibly_damaging(0.772) deleterious(0) deleterious(0.732) NULL PITRM1 10531 genome.wustl.edu 37 10 3181220 3181220 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014889.2 -1 validated p.T931 0.319 227 0% 100 38% 136 52.9% - - - HMMPfam_Peptidase_M16_C,superfamily_LuxS/MPP-like metallohydrolase PITRM1 10531 genome.wustl.edu 37 10 3189426 3189426 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014889.2 -1 validated p.R751M 1.000 160 0.6% 81 22.2% 73 50.6% possibly_damaging(0.846) deleterious(0.01) deleterious(0.731) superfamily_LuxS/MPP-like metallohydrolase,HMMPfam_M16C_assoc AKR1E2 83592 genome.wustl.edu 37 10 4889714 4889714 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001040177.1 +1 provisional p.E319K 0.002 234 0% 118 24.6% 0 - benign(0.001) deleterious(0.01) neutral(0.406) superfamily_NAD(P)-linked oxidoreductase TUBAL3 79861 genome.wustl.edu 37 10 5435831 5435831 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024803.2 -1 validated p.V330 1.000 187 0% 104 21.2% 0 - - - - superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C NET1 10276 genome.wustl.edu 37 10 5494850 5494850 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001047160.1 +1 validated p.Q187H 1.000 230 0% 114 16.7% 26 7.6% benign(0.002) tolerated(0.07) neutral(0.319) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) CALML5 51806 genome.wustl.edu 37 10 5541282 5541282 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017422.4 -1 reviewed p.T40 1.000 123 0% 53 34% 0 - - - - HMMSmart_EFh,HMMPfam_efhand,superfamily_SSF47473 CALML5 51806 genome.wustl.edu 37 10 5541325 5541325 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017422.4 -1 reviewed p.G26D 0.937 96 0% 49 16.3% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_EFh,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_SSF47473 FAM208B 54906 genome.wustl.edu 37 10 5791968 5791968 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017782.4 +1 validated p.K2195T 0.986 80 0% 50 12% 44 15.9% possibly_damaging(0.81) deleterious(0.05) deleterious(0.650) NULL GDI2 2665 genome.wustl.edu 37 10 5815880 5815880 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001494.3 -1 reviewed p.T248 0.999 357 0.3% 228 24.1% 301 38.8% - - - HMMPfam_GDI,superfamily_FAD/NAD(P)-binding domain ANKRD16 54522 genome.wustl.edu 37 10 5925029 5925029 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001009941.2 -1 validated p.G263 0.003 90 0% 39 33.3% 21 61.9% - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK FBXO18 84893 genome.wustl.edu 37 10 5957517 5957517 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032807.3 +1 reviewed p.Y567 0.000 98 0% 48 27.1% 42 26.1% - - - superfamily_SSF52540 SFMBT2 57713 genome.wustl.edu 37 10 7423794 7423794 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001029880.1 -1 provisional p.G23S 0.012 191 0% 118 16.9% 0 - benign(0.002) tolerated(0.38) neutral(0.018) NULL ENSG00000234306 0 genome.wustl.edu 37 10 10408185 10408185 + Splice_Site SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000455871 -1 known NULL 0.877 5 0.000 4 1.000 0 - - - - - UPF2 26019 genome.wustl.edu 37 10 12009410 12009410 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015542.2 -1 reviewed p.T666N 1.000 136 0% 93 16.1% 19 31.5% benign(0.01) deleterious(0.02) neutral(0.384) HMMPfam_MIF4G,HMMSmart_SM00543,superfamily_ARM repeat DHTKD1 55526 genome.wustl.edu 37 10 12143062 12143062 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000448829 +1 known p.W144* 1.000 252 0% 154 25.3% 14 35.7% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Transket_pyr,superfamily_Thiamin diphosphate-binding fold (THDP-binding) DHTKD1 55526 genome.wustl.edu 37 10 12162221 12162221 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018706.5 +1 validated p.P871 0.907 307 0% 192 29.2% 27 51.8% - - - NULL NUDT5 11164 genome.wustl.edu 37 10 12214779 12214779 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014142.2 -1 validated p.P158T 0.993 101 0% 66 16.7% 133 19.5% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_NUDIX,superfamily_Nudix OPTN 10133 genome.wustl.edu 37 10 13166003 13166003 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001008211.1 +1 reviewed p.S297 0.997 131 0% 70 20% 14 7.1% - - - NULL MCM10 55388 genome.wustl.edu 37 10 13230881 13230881 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182751.2 +1 validated p.R407C 0.502 240 0% 142 28.2% 8 62.5% possibly_damaging(0.693) tolerated(0.18) neutral(0.304) HMMPfam_zf-primase MCM10 55388 genome.wustl.edu 37 10 13233394 13233394 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182751.2 +1 validated p.K505T 0.988 134 0% 77 26% 9 55.5% possibly_damaging(0.692) tolerated(0.2) neutral(0.296) NULL MCM10 55388 genome.wustl.edu 37 10 13234478 13234478 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182751.2 +1 validated p.I553T 0.998 157 0% 83 10.8% 12 16.6% benign(0.086) tolerated(0.14) neutral(0.256) HMMPfam_Mcm10 PHYH 5264 genome.wustl.edu 37 10 13325728 13325728 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006214.3 -1 reviewed p.H264N 1.000 630 0% 379 31.1% 56 44.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PhyH PRPF18 8559 genome.wustl.edu 37 10 13653654 13653654 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003675.3 +1 reviewed p.D184Y 1.000 320 0% 186 32.8% 16 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Functional domain of the splicing factor Prp18 NMT2 9397 genome.wustl.edu 37 10 15154819 15154819 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004808.2 -1 reviewed p.S438 0.361 113 0% 50 24% 18 33.3% - - - HMMPfam_NMT_C,superfamily_Acyl-CoA N-acyltransferases (Nat) NMT2 9397 genome.wustl.edu 37 10 15177311 15177311 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004808.2 -1 reviewed p.R118I 1.000 178 0% 99 21.2% 9 11.1% benign(0.004) tolerated(0.07) neutral(0.319) superfamily_Acyl-CoA N-acyltransferases (Nat) FAM171A1 221061 genome.wustl.edu 37 10 15255150 15255150 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001010924.1 -1 validated p.L813M 1.000 98 0% 44 31.8% 26 34.6% probably_damaging(0.995) deleterious(0.04) deleterious(0.806) HMMPfam_UPF0560 FAM171A1 221061 genome.wustl.edu 37 10 15325886 15325886 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001010924.1 -1 validated p.R106W 1.000 176 0% 91 30.8% 20 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UPF0560 ITGA8 8516 genome.wustl.edu 37 10 15628613 15628613 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003638.1 -1 provisional p.I781T 1.000 140 0% 83 18.1% 0 - benign(0.074) deleterious(0) neutral(0.450) HMMPfam_Integrin_alpha2,superfamily_SSF69179 ITGA8 8516 genome.wustl.edu 37 10 15650264 15650264 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003638.1 -1 provisional p.V527I 0.076 487 0% 335 29.6% 1 0% benign(0) tolerated(0.16) neutral(0.059) HMMPfam_Integrin_alpha2,superfamily_SSF69179 CUBN 8029 genome.wustl.edu 37 10 16871010 16871010 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001081.3 -1 reviewed p.G3520C 0.999 178 0.6% 77 31.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CUBN 8029 genome.wustl.edu 37 10 16949618 16949618 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001081.3 -1 reviewed p.V2532I 0.027 182 0% 111 20.7% 0 - benign(0.017) tolerated(0.4) neutral(0.017) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CUBN 8029 genome.wustl.edu 37 10 16955841 16955841 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001081.3 -1 reviewed p.T2501M 0.000 400 0% 249 32.1% 0 - possibly_damaging(0.527) tolerated(0.05) deleterious(0.523) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CUBN 8029 genome.wustl.edu 37 10 16990557 16990557 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001081.3 -1 reviewed p.S1710I 0.980 74 0% 52 46.2% 0 - possibly_damaging(0.819) deleterious(0.03) deleterious(0.674) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CUBN 8029 genome.wustl.edu 37 10 17089482 17089482 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001081.3 -1 reviewed p.A1087V 0.995 216 0% 139 23% 0 - benign(0.246) tolerated(0.57) neutral(0.031) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain CUBN 8029 genome.wustl.edu 37 10 17156069 17156069 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001081.3 -1 reviewed p.C280 0.663 40 0% 25 40% 0 - - - - HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin CUBN 8029 genome.wustl.edu 37 10 17156164 17156164 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001081.3 -1 reviewed p.A249T 0.088 47 0% 31 29% 0 - benign(0.1) tolerated(0.41) neutral(0.022) HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_2,superfamily_EGF/Laminin CUBN 8029 genome.wustl.edu 37 10 17164794 17164794 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001081.3 -1 reviewed p.S198I 1.000 214 0.5% 112 24.1% 0 - benign(0.288) tolerated(0.12) neutral(0.349) PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin TRDMT1 1787 genome.wustl.edu 37 10 17195499 17195499 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000488990 -1 known p.W238* 0.068 74 0% 45 15.6% 0 - - - - superfamily_SSF53335 LOC100287578 100287578 genome.wustl.edu 37 10 17272454 17272454 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002342963.1 -1 model p.N147K 0.001 30 0% 12 33.3% 0 - - - - NULL STAM 8027 genome.wustl.edu 37 10 17756549 17756549 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003473.2 +1 reviewed p.V465I 1.000 394 0% 217 25.3% 32 46.8% benign(0.003) tolerated(0.57) neutral(0.006) NULL MRC1 4360 genome.wustl.edu 37 10 17898264 17898264 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001009567.1 +1 reviewed p.A474T 1.000 61 0% 30 30% 1 0% possibly_damaging(0.729) tolerated(0.44) neutral(0.278) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like,PatternScan_C_TYPE_LECTIN_1 CACNB2 783 genome.wustl.edu 37 10 18827217 18827217 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_201596.2 +1 reviewed p.L471I 0.997 444 0% 273 23.4% 0 - possibly_damaging(0.811) tolerated(0.07) deleterious(0.625) HMMPfam_Ca_channel_B,superfamily_P-loop containing nucleoside triphosphate hydrolases CACNB2 783 genome.wustl.edu 37 10 18828295 18828295 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_201596.2 +1 reviewed p.R542H 1.000 99 0% 59 18.6% 2 0% possibly_damaging(0.895) tolerated(0.06) deleterious(0.675) NULL CACNB2 783 genome.wustl.edu 37 10 18828488 18828488 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_201596.2 +1 reviewed p.R606 1.000 110 0% 72 31.9% 0 - - - - NULL CACNB2 783 genome.wustl.edu 37 10 18828550 18828550 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_201596.2 +1 reviewed p.R627H 0.994 149 0% 82 25.6% 0 - probably_damaging(0.988) tolerated(0.19) deleterious(0.487) NULL PLXDC2 84898 genome.wustl.edu 37 10 20500656 20500656 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032812.7 +1 provisional p.E374* 1.000 141 0% 106 17.9% 3 0% - - - NULL PLXDC2 84898 genome.wustl.edu 37 10 20506425 20506425 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032812.7 +1 provisional p.A398V 0.000 414 0% 337 23.4% 7 0% benign(0.002) tolerated(0.28) neutral(0.032) NULL NEBL 10529 genome.wustl.edu 37 10 21139390 21139390 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006393.2 -1 reviewed p.P350 0.003 222 0% 175 10.9% 0 - - - - NULL KIAA1217 56243 genome.wustl.edu 37 10 24833075 24833075 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019590.3 +1 validated p.A1626T 0.000 924 0% 516 32% 47 36.1% benign(0) tolerated(1) - NULL ARHGAP21 57584 genome.wustl.edu 37 10 24896783 24896783 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020824.3 -1 validated p.A824 0.970 337 0.3% 212 24.1% 18 50% - - - NULL GPR158 57512 genome.wustl.edu 37 10 25886806 25886806 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020752.2 +1 validated p.G751C 1.000 649 0% 473 28.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL GPR158 57512 genome.wustl.edu 37 10 25887955 25887955 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020752.2 +1 validated p.L1134I 1.000 245 0% 189 27.5% 0 - benign(0.059) tolerated(0.17) neutral(0.063) NULL GPR158 57512 genome.wustl.edu 37 10 25888147 25888147 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020752.2 +1 validated p.A1198T 1.000 206 0% 141 32.6% 0 - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) NULL MYO3A 53904 genome.wustl.edu 37 10 26385500 26385500 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017433.4 +1 reviewed p.Y555 1.000 535 0% 358 33.2% 0 - - - - HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYO3A 53904 genome.wustl.edu 37 10 26465695 26465695 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017433.4 +1 reviewed p.Q1453 1.000 196 0% 102 27.5% 0 - - - - NULL GAD2 2572 genome.wustl.edu 37 10 26581832 26581832 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000818.2 +1 reviewed p.P499H 1.000 809 0.1% 524 10.3% 0 - probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_Pyridoxal_deC,superfamily_PLP-dependent transferases APBB1IP 54518 genome.wustl.edu 37 10 26800776 26800776 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019043.3 +1 validated p.T211N 1.000 155 0% 98 23.5% 7 0% possibly_damaging(0.643) tolerated(0.53) neutral(0.233) HMMPfam_RA,HMMSmart_RA PDSS1 23590 genome.wustl.edu 37 10 27009168 27009168 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014317.3 +1 reviewed p.R163 0.025 153 0% 112 30.4% 13 46.1% - - - HMMPfam_polyprenyl_synt,superfamily_Terpenoid synthases ANKRD26 22852 genome.wustl.edu 37 10 27324130 27324130 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014915.2 -1 validated p.T1083 0.000 568 0% 348 16.1% 2 50% - - - NULL ANKRD26 22852 genome.wustl.edu 37 10 27324610 27324610 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014915.2 -1 validated p.M923I 0.005 208 0% 145 21.4% 4 50% benign(0.006) tolerated(0.29) neutral(0.029) NULL ANKRD26 22852 genome.wustl.edu 37 10 27326119 27326119 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014915.2 -1 validated p.S898Y 0.962 344 0.6% 233 27.9% 4 100% possibly_damaging(0.843) deleterious(0.01) deleterious(0.729) NULL YME1L1 10730 genome.wustl.edu 37 10 27406637 27406637 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_139312.1 -1 reviewed p.V586 1.000 463 0% 303 13.9% 121 25.6% - - - HMMPfam_Peptidase_M41,superfamily_P-loop containing nucleoside triphosphate hydrolases MASTL 84930 genome.wustl.edu 37 10 27458963 27458963 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032844.3 +1 reviewed p.G359C 0.069 267 0% 154 27.9% 10 50% benign(0.005) tolerated(0.28) neutral(0.032) superfamily_Kinase_like LOC100288039 100288039 genome.wustl.edu 37 10 27577639 27577639 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002342965.1 +1 model p.S147 0.998 144 0% 105 27.6% 0 - - - - NULL PTCHD3 374308 genome.wustl.edu 37 10 27702459 27702459 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001034842.3 -1 validated p.V241M 0.000 60 0% 49 16.3% 0 - probably_damaging(0.983) deleterious(0.02) deleterious(0.812) HMMPfam_Patched PTCHD3 374308 genome.wustl.edu 37 10 27702802 27702802 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001034842.3 -1 validated p.T126 0.266 59 0% 31 29% 0 - - - - NULL MKX 283078 genome.wustl.edu 37 10 28030394 28030394 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173576.2 -1 validated p.Q76H 1.000 45 0% 37 45.9% 24 16.6% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like ARMC4 55130 genome.wustl.edu 37 10 28233344 28233344 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018076.2 -1 validated p.I517T 1.000 118 0% 93 23.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00185,superfamily_ARM repeat MPP7 143098 genome.wustl.edu 37 10 28348637 28348637 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173496.3 -1 validated p.G414C 1.000 175 0% 132 33.3% 7 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Guanylate_kin,HMMSmart_GuKc,PatternScan_GUANYLATE_KINASE_1,superfamily_SSF52540 MPP7 143098 genome.wustl.edu 37 10 28358700 28358700 + Splice_Site SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173496.3 -1 validated e12+1 1.000 298 0.3% 208 24.5% 0 - - - - - MPP7 143098 genome.wustl.edu 37 10 28413031 28413031 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173496.3 -1 validated p.G182C 1.000 367 0.3% 279 22.2% 10 10% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ WAC 51322 genome.wustl.edu 37 10 28884761 28884761 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016628.3 +1 reviewed p.A237V 1.000 459 0.2% 297 25.6% 104 48% benign(0.006) tolerated(0.2) neutral(0.049) NULL MAP3K8 1326 genome.wustl.edu 37 10 30749709 30749709 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005204.2 +1 reviewed p.A450T 1.000 218 0% 119 63.9% 3 0% probably_damaging(0.998) deleterious(0.05) deleterious(0.820) NULL LOC645954 645954 genome.wustl.edu 37 10 30982437 30982437 + RNA SNP C C A rs12268518 byFrequency;by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XR_017086.3 +1 model NULL 0.080 30 0% 16 50% 0 - - - - - ZEB1 6935 genome.wustl.edu 37 10 31815705 31815705 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030751.5 +1 reviewed p.D963G 1.000 183 0% 135 27.4% 5 0% benign(0.39) deleterious(0.01) deleterious(0.530) HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ARHGAP12 94134 genome.wustl.edu 37 10 32197260 32197260 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018287.5 -1 provisional p.R175H 0.259 714 0.1% 485 32.6% 13 84.6% benign(0.001) tolerated(0.1) neutral(0.286) NULL KIF5B 3799 genome.wustl.edu 37 10 32320101 32320101 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004521.2 -1 validated p.A494D 1.000 129 0% 94 30.9% 72 55.5% probably_damaging(1) tolerated(0.12) deleterious(0.760) NULL EPC1 80314 genome.wustl.edu 37 10 32560545 32560545 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025209.2 -1 provisional p.A792V 1.000 283 0.4% 198 30.3% 57 33.3% possibly_damaging(0.822) deleterious(0) deleterious(0.756) HMMPfam_E_Pc_C ITGB1 3688 genome.wustl.edu 37 10 33201016 33201016 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033667.2 -1 reviewed p.C502 0.983 322 0% 205 35.6% 344 33.4% - - - NULL ITGB1 3688 genome.wustl.edu 37 10 33218856 33218856 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033667.2 -1 reviewed p.K90N 1.000 757 0% 512 25.2% 149 39.5% benign(0.001) tolerated(0.5) neutral(0.010) HMMPfam_Integrin_beta,HMMSmart_INB PARD3 56288 genome.wustl.edu 37 10 34673178 34673178 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019619.3 -1 validated p.L299M 0.850 439 0% 231 30.3% 18 38.8% possibly_damaging(0.946) deleterious(0.03) deleterious(0.754) HMMSmart_SM00228,superfamily_PDZ domain-like GJD4 219770 genome.wustl.edu 37 10 35896625 35896625 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153368.2 +1 validated p.A62T 0.990 134 0% 57 22.8% 0 - benign(0.053) tolerated(0.15) neutral(0.244) HMMPfam_Connexin,HMMSmart_CNX,PatternScan_CONNEXINS_1 NAMPTL 646309 genome.wustl.edu 37 10 36812568 36812568 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000440465 -1 known p.T199A 0.997 190 0% 90 23.3% 0 - probably_damaging(0.959) deleterious(0) deleterious(0.847) HMMPfam_NAPRTase ANKRD30A 91074 genome.wustl.edu 37 10 37438608 37438608 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052997.2 +1 validated e10+1 0.341 447 0% 309 24.6% 0 - - - - - ANKRD30A 91074 genome.wustl.edu 37 10 37454056 37454056 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052997.2 +1 validated p.D623E 0.000 182 0% 115 20.9% 0 - benign(0.355) tolerated(0.21) neutral(0.157) NULL ZNF248 57209 genome.wustl.edu 37 10 38120811 38120811 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021045.1 -1 provisional p.P491L 0.998 789 0.1% 524 28.6% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_C2H2 and C2HC zinc fingers ZNF33A 7581 genome.wustl.edu 37 10 38344993 38344993 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006954.1 +1 validated p.C647 0.000 493 0% 354 28% 18 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ENSG00000099251 0 genome.wustl.edu 37 10 38654376 38654376 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000356314 +1 known p.E154D 0.996 213 0% 154 9.7% 7 14.2% - - - superfamily_NAD(P)-binding Rossmann-fold domains LOC642424 642424 genome.wustl.edu 37 10 42680802 42680802 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_001717196.2 +1 model p.V131M 0.989 493 0.2% 380 8.2% 0 - - - - NULL ZNF33B 7582 genome.wustl.edu 37 10 43127851 43127851 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006955.1 -1 provisional p.D16Y 0.990 235 0% 148 27.7% 6 16.6% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box LOC728064 728064 genome.wustl.edu 37 10 43197474 43197474 + RNA SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XR_015196.2 -1 model NULL 0.003 180 0% 145 36.6% 0 - - - - - BMS1 9790 genome.wustl.edu 37 10 43282624 43282624 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014753.3 +1 reviewed p.R126C 1.000 284 0% 172 18.6% 16 31.2% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases BMS1 9790 genome.wustl.edu 37 10 43288480 43288480 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014753.3 +1 reviewed p.R326H 1.000 565 0% 340 36.8% 33 54.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases BMS1 9790 genome.wustl.edu 37 10 43292931 43292931 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014753.3 +1 reviewed p.Q683 0.899 638 0% 426 19.7% 30 30% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases BMS1 9790 genome.wustl.edu 37 10 43319220 43319220 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014753.3 +1 reviewed p.D1148E 1.000 273 0% 174 28.7% 51 43.1% possibly_damaging(0.454) deleterious(0) deleterious(0.593) NULL BMS1 9790 genome.wustl.edu 37 10 43325745 43325745 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014753.3 +1 reviewed p.H1165Y 1.000 214 0% 105 21.9% 44 45.4% probably_damaging(0.987) tolerated(1) neutral(0.436) NULL CSGALNACT2 55454 genome.wustl.edu 37 10 43650850 43650850 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018590.3 +1 provisional p.E85K 1.000 194 0% 105 32.4% 6 33.3% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_CHGN ZNF32 7580 genome.wustl.edu 37 10 44139579 44139579 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005368.1 -1 validated p.C247 0.578 127 0% 71 29.6% 55 40% - - - HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 TMEM72 643236 genome.wustl.edu 37 10 45423427 45423427 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001123376.1 +1 provisional p.F43L 1.000 193 0% 111 20.7% 0 - possibly_damaging(0.797) tolerated(0.88) neutral(0.299) NULL MARCH8 220972 genome.wustl.edu 37 10 45953942 45953942 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000453424 -1 known p.L372F 1.000 312 0% 191 34% 9 55.5% - - - NULL ZFAND4 93550 genome.wustl.edu 37 10 46111927 46111927 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001128324.1 -1 validated p.E714V 1.000 320 0% 193 31.6% 3 0% benign(0.023) tolerated(0.14) neutral(0.251) NULL FAM21C 253725 genome.wustl.edu 37 10 46265051 46265051 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015262.2 +1 validated p.A673V 0.998 757 0% 425 30.1% 13 69.2% probably_damaging(0.981) tolerated(0.14) deleterious(0.675) NULL SYT15 83849 genome.wustl.edu 37 10 46962005 46962005 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031912.3 -1 reviewed p.R411C 1.000 62 0% 30 20% 3 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) PPYR1 5540 genome.wustl.edu 37 10 47087704 47087704 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005972.4 +1 validated p.C307 1.000 226 0% 74 18.9% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FAM21B 55747 genome.wustl.edu 37 10 47945431 47945431 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018232.1 +1 validated p.P977 0.000 103 0% 39 46.2% 10 50% - - - NULL GDF2 2658 genome.wustl.edu 37 10 48414453 48414453 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016204.1 -1 reviewed p.I139V 1.000 50 0% 27 25.9% 0 - benign(0.001) tolerated(0.19) neutral(0.050) HMMPfam_TGFb_propeptide GDF10 2662 genome.wustl.edu 37 10 48428942 48428942 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004962.2 -1 reviewed p.A315V 0.000 25 0% 11 54.5% 1 0% benign(0.013) tolerated(0.18) neutral(0.057) NULL MAPK8 5599 genome.wustl.edu 37 10 49612895 49612895 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_139047.1 +1 reviewed p.C41 1.000 265 0% 151 37.1% 14 64.2% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ARHGAP22 58504 genome.wustl.edu 37 10 49667784 49667784 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021226.2 -1 validated p.N201S 1.000 104 0% 49 40.8% 0 - probably_damaging(0.984) deleterious(0.04) deleterious(0.779) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP C10orf71 118461 genome.wustl.edu 37 10 50532472 50532472 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001135196.1 +1 validated p.A628T 0.000 129 0% 72 25% 0 - benign(0) tolerated(1) - NULL C10orf71 118461 genome.wustl.edu 37 10 50532819 50532819 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001135196.1 +1 validated p.Q743 0.998 61 0% 30 30% 0 - - - - NULL OGDHL 55753 genome.wustl.edu 37 10 50946020 50946020 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018245.2 -1 validated p.R830 1.000 137 0% 81 29.6% 7 14.2% - - - HMMPfam_Transket_pyr,superfamily_SSF52518 FAM21A 387680 genome.wustl.edu 37 10 51887353 51887353 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005751.1 +1 validated p.A962V 0.936 564 0.2% 273 21.2% 17 23.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL A1CF 29974 genome.wustl.edu 37 10 52595903 52595903 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138932.1 -1 reviewed p.R179* 1.000 663 0% 579 29% 0 - - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD CSTF2T 23283 genome.wustl.edu 37 10 53457765 53457765 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015235.2 -1 validated p.G515 0.242 118 0% 76 14.5% 26 26.9% - - - NULL PRKG1 5592 genome.wustl.edu 37 10 53921652 53921652 + Silent SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006258.2 +1 validated p.S335 1.000 125 0% 79 31.6% 0 - - - - HMMPfam_cNMP_binding,HMMSmart_SM00100,superfamily_cAMP-binding domain-like PCDH15 65217 genome.wustl.edu 37 10 55568902 55568902 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142769.1 -1 reviewed p.E1641D 0.924 172 0% 112 32.1% 0 - unknown(0) deleterious(0) - NULL PCDH15 65217 genome.wustl.edu 37 10 55571352 55571352 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142770.1 -1 reviewed p.I1467 1.000 51 0% 43 37.2% 0 - - - - NULL PCDH15 65217 genome.wustl.edu 37 10 55581830 55581830 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142763.1 -1 reviewed p.V1893I 0.713 283 0% 146 28.1% 0 - unknown(0) tolerated(0.51) - NULL PCDH15 65217 genome.wustl.edu 37 10 55755470 55755470 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142763.1 -1 reviewed p.A941V 1.000 135 0% 82 28% 0 - probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMPfam_Cadherin,superfamily_Cadherin-like CISD1 55847 genome.wustl.edu 37 10 60037051 60037051 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018464.3 +1 validated p.A69V 1.000 218 0% 135 11.1% 122 18.8% possibly_damaging(0.898) tolerated(0.13) deleterious(0.607) HMMSmart_ZnF_CDGSH,HMMPfam_zf-CDGSH ANK3 288 genome.wustl.edu 37 10 61828854 61828854 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020987.2 -1 reviewed p.A3929T 0.636 597 0% 449 29.2% 0 - benign(0) - - NULL ANK3 288 genome.wustl.edu 37 10 61831479 61831479 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020987.2 -1 reviewed p.F3054V 0.637 383 0% 291 26.8% 0 - benign(0.106) - - NULL ANK3 288 genome.wustl.edu 37 10 61833169 61833169 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020987.2 -1 reviewed p.P2490 1.000 356 0.3% 251 11.2% 0 - - - - NULL ANK3 288 genome.wustl.edu 37 10 61833643 61833643 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020987.2 -1 reviewed p.V2332 1.000 360 0% 268 24.6% 0 - - - - NULL ANK3 288 genome.wustl.edu 37 10 61898785 61898785 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020987.2 -1 reviewed p.L892S 1.000 473 0% 328 26.8% 18 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RHOBTB1 9886 genome.wustl.edu 37 10 62647997 62647997 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014836.4 -1 reviewed p.E477* 1.000 175 0% 123 24.4% 7 14.2% - - - superfamily_BTB/POZ_fold,HMMPfam_BTB EGR2 1959 genome.wustl.edu 37 10 64573706 64573706 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000399.3 -1 reviewed p.P231L 1.000 127 0% 64 35.9% 2 50% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL JMJD1C 221037 genome.wustl.edu 37 10 64960308 64960308 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032776.1 -1 validated p.R1735I 1.000 88 0% 64 43.8% 16 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL JMJD1C 221037 genome.wustl.edu 37 10 64973422 64973422 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032776.1 -1 validated p.Q835H 1.000 140 0% 83 33.7% 17 52.9% probably_damaging(0.981) tolerated(0.35) neutral(0.446) NULL LRRTM3 347731 genome.wustl.edu 37 10 68687037 68687037 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178011.3 +1 validated p.I121 1.000 560 0% 294 22.8% 0 - - - - HMMSmart_SM00369,superfamily_L domain-like LRRTM3 347731 genome.wustl.edu 37 10 68687483 68687483 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178011.3 +1 validated p.G270E 1.000 423 0% 243 10.7% 0 - probably_damaging(0.998) tolerated(1) deleterious(0.474) HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like MYPN 84665 genome.wustl.edu 37 10 69925487 69925487 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032578.2 +1 validated p.E504D 0.979 367 0% 207 32.4% 0 - probably_damaging(0.999) tolerated(0.23) deleterious(0.532) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin MYPN 84665 genome.wustl.edu 37 10 69926245 69926245 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032578.2 +1 validated p.H599Y 1.000 195 0% 126 31.7% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL DNA2 1763 genome.wustl.edu 37 10 70182097 70182097 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080449.1 -1 provisional p.R947H 0.992 135 0% 103 31.1% 5 40% benign(0.062) tolerated(0.08) neutral(0.304) superfamily_P-loop containing nucleoside triphosphate hydrolases TET1 80312 genome.wustl.edu 37 10 70333198 70333198 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030625.2 +1 validated p.A368D 0.766 417 0% 308 22.7% 0 - possibly_damaging(0.896) deleterious(0) deleterious(0.798) NULL TET1 80312 genome.wustl.edu 37 10 70406317 70406317 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030625.2 +1 validated p.F1277 0.000 258 0% 155 26.5% 1 0% - - - NULL CCAR1 55749 genome.wustl.edu 37 10 70507310 70507310 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018237.2 +1 validated p.Q271H 0.982 297 0% 205 29.3% 43 48.8% unknown(0) tolerated(0.34) - NULL STOX1 219736 genome.wustl.edu 37 10 70645039 70645039 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130161.2 +1 reviewed p.P496H 1.000 222 0% 120 30.8% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DDX50 79009 genome.wustl.edu 37 10 70696828 70696828 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024045.1 +1 reviewed p.R578* 1.000 330 0% 249 22.5% 38 10.5% - - - HMMPfam_GUCT DDX21 9188 genome.wustl.edu 37 10 70733353 70733353 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004728.2 +1 reviewed p.T534M 1.000 137 0% 91 34.1% 68 44.1% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases DDX21 9188 genome.wustl.edu 37 10 70734428 70734428 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004728.2 +1 reviewed p.G557 0.974 166 0% 110 27.3% 63 39.6% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases SUPV3L1 6832 genome.wustl.edu 37 10 70945771 70945771 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003171.3 +1 provisional p.F100L 1.000 417 0% 273 34.1% 25 44% probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL HK1 3098 genome.wustl.edu 37 10 71119686 71119686 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033497.2 +1 reviewed p.G91E 1.000 205 0% 94 16% 34 20.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hexokinase_1,superfamily_SSF53067 HK1 3098 genome.wustl.edu 37 10 71139806 71139806 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033497.2 +1 reviewed p.R411Q 1.000 85 0% 44 22.7% 63 36.5% probably_damaging(0.998) tolerated(0.29) deleterious(0.503) HMMPfam_Hexokinase_2,superfamily_SSF53067 PPA1 5464 genome.wustl.edu 37 10 71969414 71969414 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021129.3 -1 reviewed p.P180H 1.000 282 0.4% 187 14.4% 415 16.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pyrophosphatase,superfamily_Pyrophosphatase NPFFR1 64106 genome.wustl.edu 37 10 72025953 72025953 + Missense_Mutation SNP C C T rs188869837 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000277942 -1 known p.V68M 0.998 252 0.4% 144 29.2% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like C10orf27 219793 genome.wustl.edu 37 10 72536938 72536938 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152710.2 -1 validated p.A221T 0.000 83 0% 40 32.5% 0 - benign(0.001) tolerated(1) - NULL UNC5B 219699 genome.wustl.edu 37 10 73044511 73044511 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_170744.3 +1 validated p.S113 0.010 60 0% 25 28% 24 8.3% - - - HMMSmart_SM00409,superfamily_Immunoglobulin ASCC1 51008 genome.wustl.edu 37 10 73956576 73956576 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015947.2 -1 validated p.C161Y 1.000 12 0% 11 36.4% 29 55.1% possibly_damaging(0.599) tolerated(0.48) neutral(0.218) NULL MCU 90550 genome.wustl.edu 37 10 74631333 74631333 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138357.1 +1 provisional p.R286C 1.000 380 0.3% 212 30.2% 19 47.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF607 TTC18 118491 genome.wustl.edu 37 10 75034274 75034274 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145170.3 -1 validated p.R988* 1.000 226 0% 143 31.5% 2 0% - - - HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like TTC18 118491 genome.wustl.edu 37 10 75037005 75037005 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145170.3 -1 validated p.A908D 1.000 156 0% 104 29.8% 2 0% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) superfamily_TPR-like TTC18 118491 genome.wustl.edu 37 10 75113322 75113322 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145170.3 -1 validated p.P81H 1.000 261 0% 150 31.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ANXA7 310 genome.wustl.edu 37 10 75156962 75156962 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004034.2 -1 reviewed p.S110 0.922 118 0% 79 26.6% 111 47.7% - - - NULL MSS51 118490 genome.wustl.edu 37 10 75187869 75187869 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001024593.1 -1 validated p.S58 1.000 180 0% 96 28.1% 0 - - - - NULL USP54 159195 genome.wustl.edu 37 10 75258785 75258785 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152586.3 -1 provisional p.G1553W 0.895 995 0% 596 31% 42 47.6% probably_damaging(0.984) deleterious(0) deleterious(0.875) NULL USP54 159195 genome.wustl.edu 37 10 75260421 75260421 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152586.3 -1 provisional p.R1496I 0.998 237 0% 130 10% 49 10.2% probably_damaging(0.982) deleterious(0.01) deleterious(0.832) NULL SYNPO2L 79933 genome.wustl.edu 37 10 75406744 75406744 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001114133.1 -1 validated p.R889Q 1.000 82 0% 42 38.1% 0 - probably_damaging(1) tolerated(0.49) deleterious(0.510) NULL SYNPO2L 79933 genome.wustl.edu 37 10 75408191 75408191 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001114133.1 -1 validated p.R407W 0.000 72 0% 33 15.2% 0 - possibly_damaging(0.926) deleterious(0.01) deleterious(0.780) NULL AGAP5 729092 genome.wustl.edu 37 10 75435506 75435506 + Silent SNP G G A rs28572353 TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001144000.1 -1 validated p.Y304 1.000 577 0% 343 14.3% 4 0% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like AGAP5 729092 genome.wustl.edu 37 10 75435558 75435558 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001144000.1 -1 validated p.G287D 1.000 533 0% 308 10.4% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like SEC24C 9632 genome.wustl.edu 37 10 75526138 75526138 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000411652 +1 known p.A244V 0.001 154 0% 85 28.2% 58 44.8% unknown(0) - - NULL SEC24C 9632 genome.wustl.edu 37 10 75529384 75529384 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004922.2 +1 reviewed p.V859I 0.998 282 0% 135 32.6% 111 52.2% benign(0) tolerated(0.35) neutral(0.021) HMMPfam_Sec23_helical,superfamily_Helical domain of Sec23/24 KIAA0913 23053 genome.wustl.edu 37 10 75548884 75548884 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000446546 +1 known p.R216Q 0.898 79 0% 29 34.5% 10 30% - - - NULL KIAA0913 23053 genome.wustl.edu 37 10 75553750 75553750 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000433366 +1 known p.W573* 1.000 64 0% 26 38.5% 24 37.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL KIAA0913 23053 genome.wustl.edu 37 10 75558191 75558191 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015037.2 +1 validated p.L1386M 0.833 54 0% 27 18.5% 40 27.5% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL NDST2 8509 genome.wustl.edu 37 10 75565422 75565422 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003635.3 -1 reviewed p.L557I 1.000 102 0% 29 17.2% 12 58.3% possibly_damaging(0.927) tolerated(0.09) deleterious(0.671) NULL NDST2 8509 genome.wustl.edu 37 10 75567702 75567702 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003635.3 -1 reviewed p.L149M 1.000 199 0% 114 28.9% 10 70% benign(0.045) tolerated(0.93) neutral(0.003) NULL CAMK2G 818 genome.wustl.edu 37 10 75607083 75607083 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_172171.1 -1 reviewed p.T240M 1.000 81 0% 48 33.3% 12 50% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase VCL 7414 genome.wustl.edu 37 10 75868839 75868839 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014000.2 +1 reviewed p.A890 0.012 128 0% 79 34.2% 41 19.5% - - - HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin ADK 132 genome.wustl.edu 37 10 76349069 76349069 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006721.2 +1 reviewed p.G252 1.000 252 0% 230 27.4% 55 32.7% - - - HMMPfam_PfkB,superfamily_Ribokinase-like KAT6B 23522 genome.wustl.edu 37 10 76603125 76603125 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012330.2 +1 validated p.P170 0.176 184 0% 96 12.5% 13 15.3% - - - "HMMSmart_SM00526,superfamily_""Winged helix"" DNA-binding domain" KAT6B 23522 genome.wustl.edu 37 10 76780932 76780932 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012330.2 +1 validated p.K970 0.998 263 0% 145 29% 7 57.1% - - - superfamily_Acyl-CoA N-acyltransferases (Nat) KAT6B 23522 genome.wustl.edu 37 10 76788926 76788926 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012330.2 +1 validated p.S1448R 0.003 350 0.3% 201 26.9% 4 25% benign(0.002) tolerated(0.06) neutral(0.323) NULL KAT6B 23522 genome.wustl.edu 37 10 76790418 76790418 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012330.2 +1 validated p.R1946C 1.000 522 0.2% 260 11.9% 19 10.5% possibly_damaging(0.802) - - NULL SAMD8 142891 genome.wustl.edu 37 10 76910318 76910318 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144660.2 +1 validated p.R11H 1.000 194 0% 105 17.1% 5 40% benign(0.003) tolerated(0.2) neutral(0.049) HMMPfam_SAM_1,HMMSmart_SAM,superfamily_SAM_homology C10orf11 83938 genome.wustl.edu 37 10 77542759 77542759 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032024.3 +1 provisional p.G9V 1.000 102 0% 54 27.8% 0 - benign(0.013) tolerated(0.15) neutral(0.241) superfamily_Outer arm dynein light chain 1 KCNMA1 3778 genome.wustl.edu 37 10 78708934 78708934 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001014797.2 -1 reviewed p.T838M 1.000 858 0% 480 28.5% 13 69.2% possibly_damaging(0.908) tolerated(0.13) deleterious(0.614) NULL KCNMA1 3778 genome.wustl.edu 37 10 78729731 78729731 + Splice_Site SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001014797.2 -1 reviewed e20+1 1.000 173 0% 109 30.3% 0 - - - - - DLG5 9231 genome.wustl.edu 37 10 79565530 79565530 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004747.3 -1 reviewed p.R1686Q 1.000 119 0% 66 43.9% 24 45.8% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SH3-domain PPIF 10105 genome.wustl.edu 37 10 81112119 81112119 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000448165 +1 known p.S117N 1.000 73 0% 30 30% 142 50.7% - - - HMMPfam_Pro_isomerase,superfamily_Cyclophilin-like FAM22B 729262 genome.wustl.edu 37 10 81472117 81472117 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000429828 +1 known p.P838H 0.002 90 0% 61 18% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SFTPD 6441 genome.wustl.edu 37 10 81697824 81697824 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003019.4 -1 validated p.V304 0.000 240 0% 147 37.4% 0 - - - - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like LOC642538 642538 genome.wustl.edu 37 10 81792022 81792022 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_926027.4 -1 model p.L44S 0.869 116 0% 68 19.1% 0 - - - - HMMPfam_Sas10_Utp3 SH2D4B 387694 genome.wustl.edu 37 10 82331301 82331301 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207372.2 +1 validated p.K154 0.870 180 0% 110 15.5% 0 - - - - NULL NRG3 10718 genome.wustl.edu 37 10 84118498 84118498 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001010848.3 +1 reviewed p.T276M 0.998 214 0% 139 25.9% 0 - - - - NULL GHITM 27069 genome.wustl.edu 37 10 85901354 85901354 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014394.2 +1 validated p.T33M 0.016 210 0% 133 30.8% 249 39.3% possibly_damaging(0.937) tolerated(0.18) neutral(0.439) NULL C10orf99 387695 genome.wustl.edu 37 10 85936244 85936244 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207373.2 +1 validated p.R27C 0.001 93 0% 40 27.5% 2 0% possibly_damaging(0.933) - - NULL GRID1 2894 genome.wustl.edu 37 10 87379674 87379674 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000327946 -1 known p.T553M 0.979 73 0% 46 15.2% 0 - - - - HMMPfam_Lig_chan,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II GRID1 2894 genome.wustl.edu 37 10 87615811 87615811 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017551.2 -1 reviewed p.R363M 1.000 116 0% 74 20.3% 0 - benign(0.372) tolerated(0.22) neutral(0.161) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I WAPAL 23063 genome.wustl.edu 37 10 88213443 88213443 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015045.2 -1 validated p.G935R 1.000 314 0% 165 13.3% 37 24.3% probably_damaging(1) tolerated(0.65) deleterious(0.503) HMMPfam_WAPL,superfamily_ARM repeat WAPAL 23063 genome.wustl.edu 37 10 88227231 88227231 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015045.2 -1 validated p.Y725 1.000 120 0% 54 42.6% 37 45.9% - - - HMMPfam_WAPL,superfamily_ARM repeat LDB3 11155 genome.wustl.edu 37 10 88441200 88441200 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007078.2 +1 reviewed p.A110V 0.981 56 0% 25 20% 0 - possibly_damaging(0.643) tolerated(1) neutral(0.226) NULL LDB3 11155 genome.wustl.edu 37 10 88476225 88476225 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007078.2 +1 reviewed p.A458V 1.000 33 0% 16 31.2% 0 - probably_damaging(0.979) tolerated(0.06) deleterious(0.744) NULL AGAP11 119385 genome.wustl.edu 37 10 88769638 88769638 + Silent SNP C C T rs74757729 TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133447.1 +1 validated p.Y543 1.000 175 0% 104 26.9% 2 0% - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK GLUD1 2746 genome.wustl.edu 37 10 88817490 88817490 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005271.3 -1 reviewed p.T484 0.987 324 0% 159 24.5% 78 46.1% - - - superfamily_NAD(P)-bd PAPSS2 9060 genome.wustl.edu 37 10 89472856 89472856 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001015880.1 +1 reviewed p.T57M 1.000 366 0% 235 24.7% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_APS_kinase,superfamily_SSF52540 PAPSS2 9060 genome.wustl.edu 37 10 89473939 89473939 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001015880.1 +1 reviewed p.G174* 1.000 305 0% 217 32.7% 1 0% - - - HMMPfam_APS_kinase,superfamily_SSF52540 PTEN 5728 genome.wustl.edu 37 10 89711927 89711928 + Frame_Shift_Ins INS - - A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000371953 +1 known p.N184fs 1.000:1.000 - - - - - - - - - superfamily_(Phosphotyrosine protein) phosphatases II RNLS 55328 genome.wustl.edu 37 10 90332760 90332760 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001031709.2 -1 validated p.W142* 1.000 501 0.2% 367 27.8% 1 0% - - - superfamily_FAD/NAD(P)-binding domain LIPJ 142910 genome.wustl.edu 37 10 90354535 90354535 + Splice_Site SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001010939.2 +1 validated e4+2 1.000 158 0% 99 13.1% 0 - - - - - FAS 355 genome.wustl.edu 37 10 90773101 90773101 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000043.3 +1 reviewed p.E218G 0.621 168 0% 113 30.1% 5 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00005,superfamily_DEATH domain FAS 355 genome.wustl.edu 37 10 90774068 90774068 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000043.3 +1 reviewed p.A290V 0.026 288 0% 161 26.1% 7 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Death,HMMSmart_SM00005,superfamily_DEATH domain LIPA 3988 genome.wustl.edu 37 10 90983549 90983549 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000235.2 -1 reviewed p.A238 0.000 456 0% 271 25.1% 47 34% - - - HMMPfam_Abhydrolase_1,superfamily_alpha/beta-Hydrolases IFIT1B 439996 genome.wustl.edu 37 10 91143946 91143946 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001010987.2 +1 validated p.G292 0.985 492 0% 282 25.5% 0 - - - - superfamily_TPR-like IFIT1 3434 genome.wustl.edu 37 10 91163174 91163174 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001548.3 +1 validated p.H381R 0.603 266 0.8% 173 30.6% 5 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_TPR-like IFIT5 24138 genome.wustl.edu 37 10 91178165 91178165 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012420.2 +1 validated p.A403 0.563 253 0% 118 22% 11 27.2% - - - superfamily_SSF48452 KIF20B 9585 genome.wustl.edu 37 10 91469691 91469691 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016195.2 +1 validated p.G120D 1.000 138 0.7% 86 31.4% 1 100% benign(0.193) tolerated(0.1) neutral(0.304) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF20B 9585 genome.wustl.edu 37 10 91476235 91476235 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016195.2 +1 validated p.R328I 0.997 66 0% 52 15.4% 4 25% possibly_damaging(0.586) deleterious(0.02) deleterious(0.585) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases KIF20B 9585 genome.wustl.edu 37 10 91497469 91497469 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016195.2 +1 validated p.Q917H 0.968 231 0% 181 27.1% 5 60% benign(0.061) deleterious(0.05) neutral(0.349) NULL LOC119358 119358 genome.wustl.edu 37 10 91738714 91738714 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_061427.3 +1 model p.G81S 1.000 124 0% 69 27.5% 0 - - - - HMMPfam_LSM,HMMSmart_SM00651,superfamily_Sm-like ribonucleoproteins HTR7 3363 genome.wustl.edu 37 10 92508891 92508891 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019859.3 -1 reviewed p.G334R 1.000 113 0% 76 31.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ANKRD1 27063 genome.wustl.edu 37 10 92675981 92675981 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014391.2 -1 reviewed p.D200Y 1.000 151 0% 81 33.3% 1 0% benign(0.013) deleterious(0.01) neutral(0.406) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK BTAF1 9044 genome.wustl.edu 37 10 93717041 93717041 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003972.2 +1 validated p.P297 0.031 333 0% 227 24.7% 7 14.2% - - - superfamily_ARM repeat BTAF1 9044 genome.wustl.edu 37 10 93718911 93718911 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003972.2 +1 validated p.E330D 1.000 382 0% 214 11.7% 3 66.6% benign(0.284) deleterious(0.04) neutral(0.436) superfamily_ARM repeat BTAF1 9044 genome.wustl.edu 37 10 93740291 93740291 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003972.2 +1 validated p.Q577H 1.000 214 0% 114 21.1% 3 66.6% benign(0.018) deleterious(0.02) neutral(0.384) superfamily_ARM repeat MARCH5 54708 genome.wustl.edu 37 10 94109126 94109126 + Silent SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017824.4 +1 validated p.G130 0.999 313 0% 193 28.5% 79 37.9% - - - NULL EXOC6 54536 genome.wustl.edu 37 10 94654777 94654777 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019053.4 +1 reviewed p.V138L 1.000 555 0% 490 26.7% 10 10% possibly_damaging(0.501) deleterious(0.01) deleterious(0.573) NULL CYP26C1 340665 genome.wustl.edu 37 10 94822661 94822661 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_183374.2 +1 reviewed p.A205V 0.800 20 0.000 6 0.667 0 - benign(0) tolerated(0.19) neutral(0.050) superfamily_Cytochrome_P450 MYOF 26509 genome.wustl.edu 37 10 95070324 95070324 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013451.3 -1 reviewed p.E1989G 1.000 185 0% 84 22.6% 30 23.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MYOF 26509 genome.wustl.edu 37 10 95134596 95134596 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013451.3 -1 reviewed p.S742L 1.000 76 0% 63 38.1% 6 0% benign(0) tolerated(0.3) neutral(0.029) NULL PLCE1 51196 genome.wustl.edu 37 10 95987084 95987084 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016341.3 +1 reviewed p.L611M 1.000 215 0% 135 25.2% 13 53.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF TBC1D12 23232 genome.wustl.edu 37 10 96269916 96269916 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015188.1 +1 validated p.S557P 1.000 147 0% 82 26.8% 8 12.5% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_TBC,HMMSmart_TBC,superfamily_RabGAP_TBC TBC1D12 23232 genome.wustl.edu 37 10 96281836 96281836 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015188.1 +1 validated p.S629I 0.997 257 0% 154 29.9% 8 50% possibly_damaging(0.449) deleterious(0.05) deleterious(0.492) HMMPfam_TBC,HMMSmart_TBC,superfamily_RabGAP_TBC HELLS 3070 genome.wustl.edu 37 10 96352271 96352271 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018063.3 +1 reviewed p.N657 1.000 216 0% 167 16.2% 9 33.3% - - - HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases HELLS 3070 genome.wustl.edu 37 10 96354509 96354509 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018063.3 +1 reviewed p.P716S 1.000 273 0% 170 15.9% 7 0% possibly_damaging(0.533) deleterious(0) deleterious(0.625) superfamily_P-loop containing nucleoside triphosphate hydrolases PDLIM1 9124 genome.wustl.edu 37 10 97007015 97007015 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020992.2 -1 provisional p.T214 0.568 439 0% 243 26.7% 104 24% - - - NULL PDLIM1 9124 genome.wustl.edu 37 10 97028572 97028572 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020992.2 -1 provisional p.R99H 0.998 233 0.4% 106 24.5% 125 31.2% possibly_damaging(0.911) deleterious(0.01) deleterious(0.768) superfamily_PDZ SORBS1 10580 genome.wustl.edu 37 10 97082509 97082509 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001034956.1 -1 validated p.S824R 1.000 254 0% 175 26.3% 0 - benign(0.156) deleterious(0.01) neutral(0.420) superfamily_SH3 SORBS1 10580 genome.wustl.edu 37 10 97143856 97143856 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001034954.1 -1 validated p.S475Y 1.000 392 0% 255 27.1% 4 0% probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL TCTN3 26123 genome.wustl.edu 37 10 97423950 97423950 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015631.5 -1 validated p.W566* 0.987 495 0% 277 22.4% 125 40% - - - NULL TCTN3 26123 genome.wustl.edu 37 10 97444270 97444270 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015631.5 -1 validated p.I361V 0.937 168 0% 115 20% 104 27.8% benign(0.025) tolerated(0.29) neutral(0.030) HMMPfam_DUF1619 ZNF518A 9849 genome.wustl.edu 37 10 97917460 97917460 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000371192 +1 known p.V461M 1.000 355 0% 261 28% 18 50% - - - NULL TLL2 7093 genome.wustl.edu 37 10 98155110 98155110 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012465.3 -1 validated p.D520 1.000 263 0% 125 23.2% 0 - - - - HMMPfam_CUB,HMMSmart_CUB,superfamily_CUB PIK3AP1 118788 genome.wustl.edu 37 10 98469354 98469354 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152309.2 -1 validated p.V134M 0.963 205 0% 120 27.5% 3 33.3% possibly_damaging(0.491) deleterious(0.01) deleterious(0.569) NULL C10orf12 26148 genome.wustl.edu 37 10 98742653 98742653 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015652.2 +1 predicted p.A502 1.000 272 0% 182 35.7% 4 75% - - - NULL ARHGAP19 84986 genome.wustl.edu 37 10 99006037 99006037 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032900.4 -1 validated p.A329T 0.922 82 0% 43 18.6% 4 0% benign(0) tolerated(0.68) neutral(0.002) NULL PGAM1 5223 genome.wustl.edu 37 10 99190264 99190264 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002629.2 +1 provisional p.R90W 1.000 664 0.2% 338 23.1% 100 54% benign(0.351) deleterious(0) deleterious(0.555) HMMPfam_PGAM,superfamily_Phosphoglycerate mutase-like MMS19 64210 genome.wustl.edu 37 10 99236602 99236602 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022362.4 -1 validated p.D204E 1.000 230 0% 121 26.4% 13 38.4% benign(0.003) tolerated(0.26) neutral(0.034) superfamily_ARM repeat UBTD1 80019 genome.wustl.edu 37 10 99329931 99329931 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024954.3 +1 provisional p.R112H 1.000 99 0% 61 39.3% 11 9% probably_damaging(1) tolerated(0.22) deleterious(0.542) NULL HOGA1 112817 genome.wustl.edu 37 10 99358936 99358936 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138413.3 +1 validated p.R144H 1.000 104 1% 58 41.4% 0 - possibly_damaging(0.852) tolerated(0.1) deleterious(0.614) HMMPfam_DHDPS,superfamily_Aldolase ZFYVE27 118813 genome.wustl.edu 37 10 99509312 99509312 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001002261.3 +1 reviewed p.T211 0.950 125 0% 55 25.5% 11 27.2% - - - NULL ZFYVE27 118813 genome.wustl.edu 37 10 99510206 99510206 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001002261.3 +1 reviewed p.T261 0.082 82 0% 53 15.1% 15 13.3% - - - NULL LOXL4 84171 genome.wustl.edu 37 10 100012165 100012165 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032211.6 -1 reviewed p.K632N 1.000 126 0% 74 24.3% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Lysyl_oxidase HPS1 3257 genome.wustl.edu 37 10 100190991 100190991 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000195.2 -1 reviewed p.R189W 1.000 18 0% 14 28.6% 30 10% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL HPSE2 60495 genome.wustl.edu 37 10 100481527 100481527 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021828.4 -1 reviewed p.K281N 1.000 290 0% 279 14% 0 - possibly_damaging(0.918) deleterious(0.04) deleterious(0.718) HMMPfam_Glyco_hydro_79n HPSE2 60495 genome.wustl.edu 37 10 100503680 100503680 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021828.4 -1 reviewed p.S248 0.697 334 0% 204 33.3% 1 0% - - - HMMPfam_Glyco_hydro_79n CNNM1 26507 genome.wustl.edu 37 10 101122004 101122004 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020348.2 +1 validated p.L627M 0.864 205 0% 132 29.5% 0 - possibly_damaging(0.845) tolerated(0.1) deleterious(0.611) NULL COX15 1355 genome.wustl.edu 37 10 101489466 101489466 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_078470.4 -1 reviewed p.R39M 0.926 200 0% 133 12% 16 6.2% possibly_damaging(0.852) deleterious(0.03) deleterious(0.692) superfamily_Trypsin-like serine proteases DNMBP 23268 genome.wustl.edu 37 10 101646087 101646087 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015221.2 -1 validated p.Q1196H 0.540 319 0.3% 147 31.3% 10 50% benign(0.296) tolerated(0.13) neutral(0.344) HMMPfam_BAR,HMMSmart_SM00721 DNMBP 23268 genome.wustl.edu 37 10 101654729 101654729 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015221.2 -1 validated p.L1044M 1.000 189 0% 73 13.7% 10 10% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_BAR,HMMSmart_SM00721 DNMBP 23268 genome.wustl.edu 37 10 101715524 101715524 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015221.2 -1 validated p.E569D 0.011 261 0% 166 15.1% 2 50% benign(0.059) tolerated(0.14) neutral(0.254) NULL CHUK 1147 genome.wustl.edu 37 10 101978505 101978505 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001278.3 -1 reviewed p.S256I 1.000 325 0% 192 27.1% 18 50% possibly_damaging(0.768) deleterious(0.01) deleterious(0.691) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) SCD 6319 genome.wustl.edu 37 10 102120592 102120592 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005063.4 +1 validated p.A328T 1.000 219 0.5% 123 27.6% 120 45.8% possibly_damaging(0.89) deleterious(0.01) deleterious(0.756) NULL SEC31B 25956 genome.wustl.edu 37 10 102248661 102248661 + Missense_Mutation SNP C C G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015490.3 -1 reviewed p.S1081T 0.986 104 0% 83 25.3% 7 42.8% benign(0.021) tolerated(1) neutral(0.001) NULL FAM178A 55719 genome.wustl.edu 37 10 102676647 102676647 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001136123.1 +1 validated p.R169* 0.147 199 0% 106 22.6% 3 100% - - - NULL FAM178A 55719 genome.wustl.edu 37 10 102697174 102697174 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001136123.1 +1 validated p.T818A 1.000 324 0% 200 13.5% 4 25% benign(0.273) tolerated(0.23) neutral(0.071) NULL FAM178A 55719 genome.wustl.edu 37 10 102707529 102707529 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001136123.1 +1 validated p.Q1015H 1.000 140 0% 97 34% 15 73.3% possibly_damaging(0.519) deleterious(0.02) deleterious(0.557) NULL C10orf2 56652 genome.wustl.edu 37 10 102747992 102747992 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021830.4 +1 reviewed p.Y9H 0.377 75 0% 45 35.6% 8 62.5% benign(0.024) deleterious(0.03) neutral(0.365) NULL BTRC 8945 genome.wustl.edu 37 10 103239193 103239193 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033637.2 +1 reviewed p.K101N 1.000 160 0% 88 25% 8 25% benign(0) deleterious(0.02) neutral(0.383) NULL POLL 27343 genome.wustl.edu 37 10 103339395 103339395 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013274.3 -1 reviewed p.S515T 1.000 44 0% 16 56.2% 33 30.3% benign(0.155) deleterious(0.04) neutral(0.362) HMMSmart_POLXc,superfamily_SSF81301 DPCD 25911 genome.wustl.edu 37 10 103354446 103354446 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015448.1 +1 provisional p.D32 0.998 173 0% 114 22.8% 37 45.9% - - - NULL MGEA5 10724 genome.wustl.edu 37 10 103559017 103559017 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012215.3 -1 validated p.P464H 1.000 658 0.2% 346 26.6% 45 35.5% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL C10orf76 79591 genome.wustl.edu 37 10 103772609 103772609 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024541.2 -1 validated p.A251S 1.000 116 0% 56 21.4% 7 42.8% benign(0.003) tolerated(1) - NULL HPS6 79803 genome.wustl.edu 37 10 103827279 103827279 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024747.4 +1 reviewed p.R683L 0.007 105 0% 67 28.4% 31 32.2% benign(0.039) tolerated(0.08) neutral(0.302) NULL HPS6 79803 genome.wustl.edu 37 10 103827420 103827420 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024747.4 +1 reviewed p.P730H 1.000 136 0% 65 27.7% 28 50% probably_damaging(0.999) tolerated(0.05) deleterious(0.836) NULL LDB1 8861 genome.wustl.edu 37 10 103868774 103868774 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000419270 -1 known p.S303 1.000 136 0% 78 30.8% 16 56.2% - - - HMMPfam_LIM_bind LDB1 8861 genome.wustl.edu 37 10 103870825 103870825 + Splice_Site SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001113407.1 -1 validated e4+1 1.000 357 0% 167 31.7% 11 100% - - - - NOLC1 9221 genome.wustl.edu 37 10 103917957 103917957 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004741.3 +1 validated p.A198V 0.350 348 0% 147 23.8% 82 52.4% unknown(0) tolerated(0.51) - NULL NOLC1 9221 genome.wustl.edu 37 10 103922009 103922009 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004741.3 +1 validated p.K695E 1.000 453 0% 242 29.3% 119 45.3% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_SRP40_C PSD 5662 genome.wustl.edu 37 10 104163161 104163161 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002779.3 -1 provisional p.A957 0.089 87 0% 28 39.3% 8 0% - - - NULL CUEDC2 79004 genome.wustl.edu 37 10 104183215 104183215 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024040.2 -1 validated p.L278I 1.000 310 0.3% 178 28.1% 109 42.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TRIM8 81603 genome.wustl.edu 37 10 104416612 104416612 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030912.2 +1 validated p.A386V 0.999 184 0% 80 27.5% 39 17.9% benign(0.039) deleterious(0.01) neutral(0.408) NULL SFXN2 118980 genome.wustl.edu 37 10 104489557 104489557 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178858.4 +1 validated p.M195I 1.000 231 0% 122 30.3% 2 0% probably_damaging(0.994) deleterious(0.03) deleterious(0.817) HMMPfam_Mtc CNNM2 54805 genome.wustl.edu 37 10 104679538 104679538 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017649.3 +1 validated p.I434T 1.000 90 0% 36 33.3% 8 37.5% possibly_damaging(0.95) deleterious(0) deleterious(0.838) NULL NT5C2 22978 genome.wustl.edu 37 10 104850451 104850451 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001134373.1 -1 validated p.R456C 1.000 137 0% 72 22.2% 69 17.3% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_5_nucleotid LOC729020 729020 genome.wustl.edu 37 10 105005762 105005762 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001143909.1 +1 provisional p.S3 0.378 62 0% 44 31.8% 1 0% - - - superfamily_RibP_bind_barrel TAF5 6877 genome.wustl.edu 37 10 105147829 105147829 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006951.3 +1 reviewed p.D751A 1.000 356 0% 224 27.7% 8 25% probably_damaging(0.979) tolerated(0.1) deleterious(0.708) superfamily_WD40 repeat-like TAF5 6877 genome.wustl.edu 37 10 105147964 105147964 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006951.3 +1 reviewed p.A796D 1.000 277 0% 165 30.9% 4 25% benign(0.312) tolerated(0.05) neutral(0.443) NULL USMG5 84833 genome.wustl.edu 37 10 105152017 105152017 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032747.2 -1 provisional p.S37 0.995 174 0% 100 32% 211 42.1% - - - NULL SH3PXD2A 9644 genome.wustl.edu 37 10 105361619 105361619 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014631.2 -1 validated p.P1091L 1.000 191 0.5% 98 24.5% 1 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain SH3PXD2A 9644 genome.wustl.edu 37 10 105561077 105561077 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014631.2 -1 validated p.T39I 1.000 157 0% 61 18% 0 - benign(0.003) tolerated(0.37) neutral(0.019) HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain SLK 9748 genome.wustl.edu 37 10 105752848 105752848 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014720.2 +1 provisional p.K157N 1.000 256 0% 157 24.2% 24 41.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SLK 9748 genome.wustl.edu 37 10 105762822 105762822 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014720.2 +1 provisional p.D629G 0.000 232 0% 142 30.3% 17 35.2% benign(0.009) tolerated(0.17) neutral(0.059) superfamily_Protein kinase-like (PK-like) SLK 9748 genome.wustl.edu 37 10 105768002 105768002 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014720.2 +1 provisional p.R891H 1.000 507 0.2% 327 29.7% 25 32% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_Protein kinase-like (PK-like) COL17A1 1308 genome.wustl.edu 37 10 105813677 105813677 + Splice_Site SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000494.3 -1 reviewed e21+1 1.000 69 0% 23 21.7% 0 - - - - - SFR1 119392 genome.wustl.edu 37 10 105883493 105883493 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001002759.1 +1 validated p.E53* 1.000 189 0% 115 26.1% 6 66.6% - - - HMMPfam_Mei5 ITPRIP 85450 genome.wustl.edu 37 10 106075368 106075368 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033397.2 -1 provisional p.R148C 0.982 96 0% 38 31.6% 4 0% probably_damaging(0.959) deleterious(0.01) deleterious(0.808) NULL SORCS3 22986 genome.wustl.edu 37 10 106737165 106737165 + Nonsense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014978.1 +1 reviewed p.K290* 1.000 621 0% 420 29.8% 0 - - - - HMMSmart_VPS10,superfamily_SSF110296 SORCS3 22986 genome.wustl.edu 37 10 106865252 106865252 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014978.1 +1 reviewed p.Q397H 1.000 307 0.3% 224 23.7% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_VPS10,superfamily_SSF110296 ADD3 120 genome.wustl.edu 37 10 111878993 111878993 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016824.3 +1 reviewed p.L248I 1.000 336 0% 234 13.2% 32 15.6% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_Aldolase_II,superfamily_AraD-like aldolase/epimerase PDCD4 27250 genome.wustl.edu 37 10 112649383 112649383 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014456.3 +1 reviewed p.Q290H 1.000 312 0.3% 232 25.9% 103 40.7% benign(0) tolerated(1) - NULL TECTB 6975 genome.wustl.edu 37 10 114061864 114061864 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_058222.1 +1 provisional p.G305R 1.000 339 0% 172 26.7% 0 - benign(0.027) deleterious(0.03) neutral(0.366) NULL TDRD1 56165 genome.wustl.edu 37 10 115966023 115966023 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198795.1 +1 reviewed p.L440F 0.966 213 0% 152 27.6% 0 - probably_damaging(0.998) tolerated(0.3) deleterious(0.503) NULL TDRD1 56165 genome.wustl.edu 37 10 115973246 115973246 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198795.1 +1 reviewed p.T658M 0.000 565 0% 446 26.5% 0 - benign(0.017) tolerated(0.11) neutral(0.272) NULL VWA2 340706 genome.wustl.edu 37 10 116045832 116045832 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198496.1 +1 provisional p.S378A 1.000 82 0% 33 27.3% 19 15.7% probably_damaging(0.975) tolerated(0.08) deleterious(0.717) HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 AFAP1L2 84632 genome.wustl.edu 37 10 116070142 116070142 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001936.1 -1 validated p.P285T 0.945 74 0% 29 44.8% 1 0% possibly_damaging(0.833) tolerated(0.06) deleterious(0.640) NULL TRUB1 142940 genome.wustl.edu 37 10 116734973 116734973 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_139169.4 +1 validated p.W295* 1.000 609 0% 493 31.8% 20 45% - - - superfamily_PsdUridine_synth_cat_dom ATRNL1 26033 genome.wustl.edu 37 10 117027914 117027914 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207303.2 +1 validated p.C698Y 1.000 154 0% 127 29.9% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_PSI,HMMSmart_SM00423 ATRNL1 26033 genome.wustl.edu 37 10 117061443 117061443 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207303.2 +1 validated p.G903D 1.000 279 0% 162 27.2% 0 - benign(0.358) tolerated(0.07) neutral(0.432) HMMPfam_PSI,HMMSmart_SM00423 ATRNL1 26033 genome.wustl.edu 37 10 117309012 117309012 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207303.2 +1 validated p.I1254T 1.000 202 0% 125 16.8% 0 - possibly_damaging(0.521) deleterious(0) deleterious(0.620) NULL C10orf96 374355 genome.wustl.edu 37 10 118084837 118084837 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198515.2 +1 validated p.C34 0.996 96 0% 61 9.8% 0 - - - - NULL PNLIPRP3 119548 genome.wustl.edu 37 10 118220683 118220683 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001011709.2 +1 validated p.V230A 0.000 219 0.5% 124 33.9% 0 - benign(0) tolerated(0.13) neutral(0.253) HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases PNLIPRP3 119548 genome.wustl.edu 37 10 118220790 118220790 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001011709.2 +1 validated p.A266T 0.000 145 0% 105 27.6% 0 - benign(0) tolerated(0.08) neutral(0.300) HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases PNLIP 5406 genome.wustl.edu 37 10 118306831 118306831 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000936.2 +1 reviewed p.L24 0.334 298 0% 166 25.9% 0 - - - - HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases PNLIPRP1 5407 genome.wustl.edu 37 10 118357640 118357640 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006229.2 +1 provisional p.A259V 0.153 55 0% 36 16.7% 0 - benign(0) tolerated(0.31) neutral(0.027) HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases PNLIPRP1 5407 genome.wustl.edu 37 10 118368618 118368618 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006229.2 +1 provisional p.T465M 0.000 76 0% 37 29.7% 0 - possibly_damaging(0.638) tolerated(0.24) neutral(0.261) HMMPfam_PLAT,HMMSmart_SM00308,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain) PNLIPRP2 5408 genome.wustl.edu 37 10 118389518 118389518 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005396.4 +1 validated p.T215M 1.000 52 0% 25 16% 2 0% unknown(0) - - NULL HSPA12A 259217 genome.wustl.edu 37 10 118458231 118458231 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025015.2 -1 validated p.D154A 1.000 146 0% 70 30% 1 0% benign(0.08) tolerated(0.52) neutral(0.014) superfamily_SSF53067 KIAA1598 57698 genome.wustl.edu 37 10 118728190 118728190 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001127211.1 -1 validated p.V49I 1.000 110 0% 52 40.4% 14 64.2% possibly_damaging(0.585) tolerated(0.19) neutral(0.251) NULL KIAA1598 57698 genome.wustl.edu 37 10 118728192 118728192 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001127211.1 -1 validated p.A48V 1.000 110 0% 53 18.9% 14 28.5% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) NULL C10orf46 143384 genome.wustl.edu 37 10 120489889 120489889 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153810.4 -1 validated p.S134I 1.000 236 0% 118 30.5% 12 41.6% benign(0.039) tolerated(0.05) neutral(0.347) superfamily_Cullin repeat TIAL1 7073 genome.wustl.edu 37 10 121337167 121337167 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001033925.1 -1 reviewed p.A230V 0.998 332 0% 215 12.1% 67 31.3% benign(0.006) tolerated(0.23) neutral(0.042) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 TIAL1 7073 genome.wustl.edu 37 10 121337192 121337192 + Frame_Shift_Del DEL A A - novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001033925.1 -1 reviewed p.C222fs 1.000 - - - - - - - - - superfamily_SSF54928 TIAL1 7073 genome.wustl.edu 37 10 121339472 121339472 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001033925.1 -1 reviewed p.G158V 1.000 175 0% 143 31.5% 52 75% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 TIAL1 7073 genome.wustl.edu 37 10 121347682 121347682 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001033925.1 -1 reviewed p.S37R 1.000 154 0% 98 28.6% 28 96.4% probably_damaging(0.989) tolerated(0.14) deleterious(0.689) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 INPP5F 22876 genome.wustl.edu 37 10 121571301 121571301 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014937.2 +1 reviewed p.L574F 1.000 222 0% 160 26.3% 4 25% probably_damaging(1) tolerated(0.11) deleterious(0.772) NULL MCMBP 79892 genome.wustl.edu 37 10 121595152 121595152 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024834.2 -1 validated p.S538I 1.000 324 0% 217 31.8% 117 41.8% benign(0.045) deleterious(0.05) neutral(0.348) HMMPfam_DUF2044 MCMBP 79892 genome.wustl.edu 37 10 121602056 121602056 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024834.2 -1 validated p.G353V 0.998 352 0% 250 25.2% 84 54.7% benign(0.344) tolerated(0.33) neutral(0.133) HMMPfam_DUF2044 SEC23IP 11196 genome.wustl.edu 37 10 121691751 121691751 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007190.2 +1 reviewed p.T893 0.889 273 0% 191 30.4% 31 35.4% - - - HMMPfam_DDHD SEC23IP 11196 genome.wustl.edu 37 10 121692595 121692595 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007190.2 +1 reviewed p.R946H 1.000 177 0% 135 31.9% 29 17.2% probably_damaging(0.998) deleterious(0.05) deleterious(0.820) HMMPfam_DDHD WDR11 55717 genome.wustl.edu 37 10 122618293 122618293 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018117.11 +1 reviewed p.A113T 0.256 142 0% 96 24% 21 33.3% benign(0) tolerated(1) - HMMSmart_WD40,superfamily_WD40_like ATE1 11101 genome.wustl.edu 37 10 123503218 123503218 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001976.1 -1 reviewed p.R512W 0.853 154 0% 114 35.1% 16 31.2% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL TACC2 10579 genome.wustl.edu 37 10 123842360 123842360 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000491540 +1 known p.V129M 0.042 59 0% 33 39.4% 0 - - - - NULL TACC2 10579 genome.wustl.edu 37 10 123846079 123846079 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_206862.2 +1 reviewed p.A1355D 0.001 53 0% 22 18.2% 0 - benign(0.006) deleterious(0) neutral(0.445) NULL TACC2 10579 genome.wustl.edu 37 10 123971092 123971092 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_206862.2 +1 reviewed p.S2384 1.000 506 0.2% 278 33.8% 30 53.3% - - - NULL PLEKHA1 59338 genome.wustl.edu 37 10 124184473 124184473 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001974.1 +1 validated p.Q270* 1.000 172 0% 101 9.9% 50 6% - - - HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 PLEKHA1 59338 genome.wustl.edu 37 10 124189338 124189338 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001974.1 +1 validated p.A367T 1.000 175 0% 105 29.5% 60 53.3% benign(0) tolerated(0.17) neutral(0.059) NULL PLEKHA1 59338 genome.wustl.edu 37 10 124189424 124189424 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001974.1 +1 validated p.D395 0.980 104 0% 57 15.8% 67 16.4% - - - NULL HTRA1 5654 genome.wustl.edu 37 10 124273725 124273725 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002775.4 +1 reviewed p.N431 0.320 536 0% 275 20.7% 76 15.7% - - - HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ DMBT1 1755 genome.wustl.edu 37 10 124380665 124380665 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007329.2 +1 reviewed p.V1664M 1.000 460 0.2% 204 30.9% 0 - probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SM00202,superfamily_SRCR-like DMBT1 1755 genome.wustl.edu 37 10 124389423 124389423 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007329.2 +1 reviewed p.P1783 0.019 720 0% 399 30.6% 0 - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain DMBT1 1755 genome.wustl.edu 37 10 124395638 124395638 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007329.2 +1 reviewed p.R2098H 0.985 77 0% 43 25.6% 0 - probably_damaging(1) tolerated(0.14) deleterious(0.750) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain DMBT1 1755 genome.wustl.edu 37 10 124402642 124402642 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007329.2 +1 reviewed p.V2324M 0.000 204 0% 96 22.9% 3 66.6% probably_damaging(0.978) tolerated(0.17) deleterious(0.479) HMMPfam_Zona_pellucida,HMMSmart_SM00241 DMBT1 1755 genome.wustl.edu 37 10 124402855 124402855 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007329.2 +1 reviewed p.V2395I 0.117 56 0% 54 24.1% 5 0% probably_damaging(0.974) tolerated(0.24) neutral(0.453) NULL C10orf88 80007 genome.wustl.edu 37 10 124697330 124697330 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024942.3 -1 validated p.L332M 1.000 404 0.5% 321 31.5% 6 50% probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL BUB3 9184 genome.wustl.edu 37 10 124919971 124919971 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004725.3 +1 reviewed p.G156S 1.000 242 0% 127 29.9% 126 42.8% benign(0.005) tolerated(0.76) neutral(0.001) HMMSmart_SM00320,superfamily_WD40 repeat-like CPXM2 119587 genome.wustl.edu 37 10 125557566 125557566 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198148.2 -1 validated p.R272H 1.000 231 0% 125 11.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_F5_F8_type_C,HMMSmart_SM00231,superfamily_Galactose-binding domain-like CHST15 51363 genome.wustl.edu 37 10 125804259 125804259 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015892.2 -1 validated p.A241 0.021 41 0% 29 17.2% 4 0% - - - NULL METTL10 399818 genome.wustl.edu 37 10 126453989 126453989 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000368836 -1 known p.K196 1.000 382 0% 238 26.1% 11 36.3% - - - superfamily_SSF53335 FAM175B 23172 genome.wustl.edu 37 10 126523198 126523198 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032182.3 +1 validated p.S302 0.795 92 0% 66 27.3% 20 45% - - - NULL CTBP2 1488 genome.wustl.edu 37 10 126715782 126715782 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022802.2 -1 reviewed p.A183T 0.042 49 0% 27 14.8% 0 - possibly_damaging(0.68) deleterious(0) deleterious(0.687) NULL BCCIP 56647 genome.wustl.edu 37 10 127524760 127524760 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_078468.2 +1 reviewed p.T288S 1.000 371 0% 191 30.9% 31 25.8% benign(0.039) tolerated(0.32) neutral(0.026) NULL DHX32 55760 genome.wustl.edu 37 10 127548181 127548181 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018180.2 -1 reviewed p.A280 1.000 138 0% 92 20.7% 11 18.1% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases ADAM12 8038 genome.wustl.edu 37 10 127782691 127782691 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003474.4 -1 reviewed p.D339 1.000 197 0% 79 21.5% 2 0% - - - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ADAM12 8038 genome.wustl.edu 37 10 127789743 127789743 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003474.4 -1 reviewed p.C273Y 1.000 119 0% 64 32.8% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ADAM12 8038 genome.wustl.edu 37 10 127806766 127806766 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003474.4 -1 reviewed p.S151 0.990 223 0% 117 27.4% 2 0% - - - HMMPfam_Pep_M12B_propep C10orf90 118611 genome.wustl.edu 37 10 128193241 128193241 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004298.2 -1 validated p.A176 0.000 73 0% 46 30.4% 0 - - - - NULL DOCK1 1793 genome.wustl.edu 37 10 128798503 128798503 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000398025 +1 known p.R306H 0.994 282 0% 171 21.6% 11 36.3% benign(0.157) tolerated(0.22) neutral(0.056) NULL DOCK1 1793 genome.wustl.edu 37 10 128821552 128821552 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000398025 +1 known p.T451 0.020 654 0.2% 385 30.1% 15 46.6% - - - NULL DOCK1 1793 genome.wustl.edu 37 10 129231684 129231684 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000398025 +1 known p.G1729 1.000 242 0% 104 14.4% 25 28% - - - NULL PTPRE 5791 genome.wustl.edu 37 10 129868019 129868019 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006504.4 +1 reviewed p.A357 0.000 106 0% 55 14.5% 5 0% - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II MKI67 4288 genome.wustl.edu 37 10 129899557 129899557 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002417.4 -1 reviewed p.R3224W 0.037 250 0.4% 143 26.6% 32 34.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MKI67 4288 genome.wustl.edu 37 10 129904112 129904112 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002417.4 -1 reviewed p.R1998* 0.000 933 0% 522 14.4% 26 26.9% - - - HMMPfam_K167R MKI67 4288 genome.wustl.edu 37 10 129911833 129911833 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002417.4 -1 reviewed p.R505H 1.000 266 0% 155 29.7% 9 44.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MKI67 4288 genome.wustl.edu 37 10 129913772 129913772 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002417.4 -1 reviewed p.G300 0.000 162 0.6% 88 20.5% 4 75% - - - NULL TCERG1L 256536 genome.wustl.edu 37 10 133106524 133106524 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_174937.3 -1 validated p.P207H 0.643 67 0% 29 44.8% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL JAKMIP3 282973 genome.wustl.edu 37 10 133949491 133949491 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001105521.2 +1 provisional p.R343C 1.000 14 0% 12 41.7% 0 - probably_damaging(0.995) tolerated(0.14) deleterious(0.707) NULL TTC40 54777 genome.wustl.edu 37 10 134626329 134626329 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000368586 -1 known p.S2487 0.110 43 0% 18 50% 0 - - - - NULL KNDC1 85442 genome.wustl.edu 37 10 135026363 135026363 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152643.6 +1 validated p.G1460 0.539 24 0% 19 42.1% 0 - - - - superfamily_Ras GEF VENTX 27287 genome.wustl.edu 37 10 135053571 135053571 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014468.2 +1 reviewed p.L180M 0.004 39 0% 21 23.8% 1 0% probably_damaging(0.964) tolerated(0.19) neutral(0.456) NULL TUBGCP2 10844 genome.wustl.edu 37 10 135106129 135106129 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006659.2 -1 validated p.S363I 1.000 25 0% 24 25% 63 46% benign(0.001) tolerated(0.49) neutral(0.011) HMMPfam_Spc97_Spc98 ECHS1 1892 genome.wustl.edu 37 10 135179506 135179506 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004092.3 -1 reviewed p.A238V 0.204 54 0% 37 35.1% 350 56.5% possibly_damaging(0.819) tolerated(0.27) neutral(0.343) superfamily_SSF52096 PAOX 196743 genome.wustl.edu 37 10 135203130 135203130 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152911.2 +1 validated p.R424Q 0.997 38 0% 16 37.5% 6 50% probably_damaging(1) tolerated(0.14) deleterious(0.750) HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain,superfamily_FAD-linked reductases C-terminal domain SYCE1 93426 genome.wustl.edu 37 10 135372422 135372422 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001143764.1 -1 validated p.A77D 0.486 82 0% 40 22.5% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SIRT3 23410 genome.wustl.edu 37 11 218977 218977 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012239.5 -1 validated p.R345Q 0.974 115 0% 60 20% 24 45.8% probably_damaging(0.995) deleterious(0.03) deleterious(0.822) superfamily_SSF52467 SIRT3 23410 genome.wustl.edu 37 11 219015 219015 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012239.5 -1 validated p.E332D 0.443 92 0% 51 27.5% 29 20.6% benign(0.003) tolerated(0.26) neutral(0.034) superfamily_SSF52467 ANO9 338440 genome.wustl.edu 37 11 418955 418955 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001012302.2 -1 validated p.V657I 0.256 46 0% 19 21.1% 7 28.5% benign(0.187) tolerated(0.44) neutral(0.030) HMMPfam_DUF590 DEAF1 10522 genome.wustl.edu 37 11 680973 680973 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021008.2 -1 validated p.A329 0.042 70 0% 36 41.7% 47 42.5% - - - NULL TALDO1 6888 genome.wustl.edu 37 11 759053 759053 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006755.1 +1 reviewed p.A109T 0.953 107 0% 49 22.4% 410 46.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Transaldolase,superfamily_SSF51569 SNORA52 619565 genome.wustl.edu 37 11 811728 811728 + RNA SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NR_002585.1 +1 provisional NULL 1.000 80 0% 41 31.7% 3 0% - - - - MUC5B 727897 genome.wustl.edu 37 11 1262637 1262637 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002458.1 +1 validated p.W1512* 1.000 37 0% 15 40% 7 0% - - - NULL MUC5B 727897 genome.wustl.edu 37 11 1271142 1271142 + Silent SNP C C A rs184417075 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002458.1 +1 validated p.P4347 0.000 74 0% 52 21.2% 58 70.6% - - - NULL MUC5B 727897 genome.wustl.edu 37 11 1271334 1271334 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002458.1 +1 validated p.T4411 0.000 71 0% 36 30.6% 43 62.7% - - - NULL KRTAP5-3 387266 genome.wustl.edu 37 11 1628992 1628992 + Silent SNP G G T rs60210378 byCluster;by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001012708.2 -1 validated p.G208 1.000 643 0.3% 350 27.1% 0 - - - - NULL IGF2 3481 genome.wustl.edu 37 11 2161401 2161401 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001127598.1 -1 reviewed p.E42D 0.991 29 0% 25 44% 0 - benign(0.056) deleterious(0.01) neutral(0.409) NULL CARS 833 genome.wustl.edu 37 11 3028125 3028125 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001014437.1 -1 reviewed p.R711 1.000 192 0% 75 18.7% 86 50% - - - NULL ZNF195 7748 genome.wustl.edu 37 11 3380861 3380861 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130520.1 -1 validated p.I459 0.792 727 0% 421 13.5% 23 26% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers NUP98 4928 genome.wustl.edu 37 11 3723908 3723908 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016320.4 -1 reviewed p.G1099 0.998 155 0% 85 29.4% 45 33.3% - - - NULL NUP98 4928 genome.wustl.edu 37 11 3733849 3733849 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016320.4 -1 reviewed p.S896N 1.000 422 0% 289 30.1% 47 46.8% benign(0.005) tolerated(0.43) neutral(0.013) NULL NUP98 4928 genome.wustl.edu 37 11 3744587 3744587 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016320.4 -1 reviewed p.P649L 1.000 162 0% 112 30.4% 31 35.4% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL PGAP2 27315 genome.wustl.edu 37 11 3838631 3838631 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014489.2 +1 validated p.D72N 0.997 122 0.8% 62 25.8% 2 50% benign(0.023) deleterious(0.02) neutral(0.384) NULL RHOG 391 genome.wustl.edu 37 11 3849087 3849087 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001665.3 -1 validated p.R94 1.000 59 0% 30 26.7% 111 35.1% - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases TRIM21 6737 genome.wustl.edu 37 11 4406849 4406849 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003141.3 -1 reviewed p.R365M 1.000 150 0% 73 11% 21 4.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_SPRY,HMMSmart_SPRY OR52K2 119774 genome.wustl.edu 37 11 4471232 4471232 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005172.2 +1 validated p.I221 0.000 2296 0% 1441 29.2% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR52I2 143502 genome.wustl.edu 37 11 4608098 4608098 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005170.2 +1 validated p.N19T 0.099 375 0% 273 31.5% 0 - benign(0.079) tolerated(0.21) neutral(0.049) superfamily_SSF81321 OR52I1 390037 genome.wustl.edu 37 11 4615989 4615989 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005169.1 +1 validated p.A241S 1.000 712 0% 418 27% 0 - possibly_damaging(0.794) tolerated(0.06) deleterious(0.621) HMMPfam_7tm_1,superfamily_SSF81321 OR51E2 81285 genome.wustl.edu 37 11 4703877 4703877 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030774.3 -1 validated p.A22V 0.152 218 0% 123 27.6% 0 - benign(0.117) tolerated(1) neutral(0.009) superfamily_Family A G protein-coupled receptor-like OR52R1 119695 genome.wustl.edu 37 11 4824796 4824796 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005177.3 -1 validated p.P351L 0.001 482 0% 289 21.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR52R1 119695 genome.wustl.edu 37 11 4825793 4825793 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005177.3 -1 validated p.S19P 0.001 174 0% 143 41.3% 0 - benign(0.023) - - NULL OR51T1 401665 genome.wustl.edu 37 11 4903926 4903926 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004759.1 +1 provisional p.L293R 0.002 514 0% 410 30.5% 0 - probably_damaging(0.975) deleterious(0) deleterious(0.861) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR51G2 81282 genome.wustl.edu 37 11 4936501 4936501 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005238.1 -1 provisional p.I131 0.971 125 0% 104 22.1% 0 - - - - HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 OR51A4 401666 genome.wustl.edu 37 11 4968229 4968229 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005329.1 -1 provisional p.C34 0.001 477 0.4% 293 31.7% 0 - - - - superfamily_SSF81321 MMP26 56547 genome.wustl.edu 37 11 5010932 5010932 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021801.3 +1 reviewed p.E52K 0.000 88 0% 55 16.4% 6 0% benign(0.415) tolerated(0.76) neutral(0.136) NULL OR51L1 119682 genome.wustl.edu 37 11 5021020 5021020 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004755.1 +1 provisional p.L270 0.001 269 0% 144 30.6% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR52J3 119679 genome.wustl.edu 37 11 5068240 5068240 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001916.2 +1 validated p.V162A 0.022 326 0% 231 25.5% 0 - benign(0.008) tolerated(0.16) neutral(0.059) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR52E2 119678 genome.wustl.edu 37 11 5080819 5080819 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005164.2 -1 validated p.S13 0.992 257 0% 212 23.1% 0 - - - - superfamily_Family A G protein-coupled receptor-like HBG2 3048 genome.wustl.edu 37 11 5274485 5274485 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000380247 -1 known p.S155I 0.001 377 0% 257 24.5% 0 - unknown(0) - - NULL OR51B4 79339 genome.wustl.edu 37 11 5322417 5322417 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033179.2 -1 validated p.G254R 0.914 241 0% 128 11.7% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR51B4 79339 genome.wustl.edu 37 11 5322770 5322770 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033179.2 -1 validated p.S136F 0.010 484 0.4% 273 10.6% 0 - possibly_damaging(0.822) deleterious(0.02) deleterious(0.694) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like UBQLN3 50613 genome.wustl.edu 37 11 5529416 5529416 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017481.2 -1 reviewed p.A458D 0.001 120 0.8% 68 14.7% 0 - benign(0.012) deleterious(0.02) neutral(0.384) NULL UBQLNL 143630 genome.wustl.edu 37 11 5536502 5536502 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145053.4 -1 validated p.Q390H 0.002 274 0% 162 29% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL UBQLNL 143630 genome.wustl.edu 37 11 5536751 5536751 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145053.4 -1 validated p.Q307H 0.005 205 0% 123 28.5% 4 0% probably_damaging(0.965) deleterious(0.03) deleterious(0.771) NULL OR52B6 340980 genome.wustl.edu 37 11 5602923 5602923 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005162.2 +1 validated p.P273T 0.937 872 0% 413 20.6% 0 - probably_damaging(0.995) deleterious(0.04) deleterious(0.806) HMMPfam_7tm_1,superfamily_SSF81321 TRIM6-TRIM34 445372 genome.wustl.edu 37 11 5626762 5626762 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001003819.2 +1 reviewed p.R267C 0.331 234 0% 154 35.7% 4 0% possibly_damaging(0.838) tolerated(0.05) deleterious(0.665) NULL TRIM22 10346 genome.wustl.edu 37 11 5730528 5730528 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006074.3 +1 reviewed p.S383R 0.000 445 0% 314 24.8% 7 0% benign(0.031) tolerated(0.53) neutral(0.009) HMMPfam_SPRY,HMMSmart_SM00449 TRIM22 10346 genome.wustl.edu 37 11 5730788 5730788 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006074.3 +1 reviewed p.F469L 0.996 664 0.2% 373 28.7% 10 0% probably_damaging(0.976) deleterious(0) deleterious(0.863) HMMPfam_SPRY,HMMSmart_SM00449 OR52N4 390072 genome.wustl.edu 37 11 5776483 5776483 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005175.2 +1 validated p.C171* 0.866 542 0.4% 417 27.3% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR52N5 390075 genome.wustl.edu 37 11 5799307 5799307 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001922.2 -1 validated p.T186 0.083 215 0% 189 37% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR52N1 79473 genome.wustl.edu 37 11 5809314 5809314 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001913.1 -1 provisional p.A245T 0.995 209 0% 170 42.4% 0 - benign(0.155) deleterious(0.02) neutral(0.397) HMMPfam_7tm_1,superfamily_SSF81321 OR52E6 390078 genome.wustl.edu 37 11 5862795 5862795 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005167.1 -1 provisional p.V111 0.000 1198 0% 860 29.7% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR56A5 390084 genome.wustl.edu 37 11 5989013 5989013 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002343047.1 -1 model p.A238T 0.002 81 0% 52 36.5% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 C11orf42 160298 genome.wustl.edu 37 11 6231334 6231334 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173525.2 +1 validated p.A109 1.000 282 0% 171 26.9% 1 0% - - - NULL FAM160A2 84067 genome.wustl.edu 37 11 6232914 6232914 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032127.3 -1 validated p.R928H 1.000 279 0% 122 27% 22 45.4% probably_damaging(0.974) tolerated(0.15) deleterious(0.657) NULL FAM160A2 84067 genome.wustl.edu 37 11 6243818 6243818 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032127.3 -1 validated p.A349T 1.000 272 0% 144 27.1% 25 40% benign(0.11) tolerated(0.39) neutral(0.025) HMMPfam_RAI16-like FAM160A2 84067 genome.wustl.edu 37 11 6244425 6244425 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032127.3 -1 validated p.R274Q 1.000 580 0% 338 30.2% 21 38% probably_damaging(0.999) tolerated(0.1) deleterious(0.777) HMMPfam_RAI16-like FAM160A2 84067 genome.wustl.edu 37 11 6245337 6245337 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032127.3 -1 validated p.G94R 1.000 137 0.7% 65 32.3% 10 40% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CNGA4 1262 genome.wustl.edu 37 11 6261771 6261771 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001037329.2 +1 validated p.G249 0.027 254 0% 115 27.8% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CCKBR 887 genome.wustl.edu 37 11 6292299 6292299 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_176875.2 +1 reviewed p.S290 0.027 99 0% 68 32.4% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SMPD1 6609 genome.wustl.edu 37 11 6413064 6413064 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000543.3 +1 reviewed p.R257W 0.995 178 0% 85 28.2% 15 60% benign(0.108) tolerated(0.22) neutral(0.051) HMMPfam_Metallophos,superfamily_Metallo-dependent phosphatases TRIM3 10612 genome.wustl.edu 37 11 6479526 6479526 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006458.2 -1 reviewed p.R44S 1.000 73 0% 32 31.2% 62 53.2% benign(0.025) tolerated(0.09) neutral(0.297) HMMSmart_SM00184,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_RING/U-box DNHD1 144132 genome.wustl.edu 37 11 6592174 6592174 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144666.2 +1 provisional p.R4478W 0.001 69 0% 28 21.4% 9 88.8% probably_damaging(0.988) tolerated(0.18) deleterious(0.493) HMMPfam_Dynein_heavy DNHD1 144132 genome.wustl.edu 37 11 6592590 6592590 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144666.2 +1 provisional p.G4616 0.000 42 0% 20 30% 6 33.3% - - - HMMPfam_Dynein_heavy DNHD1 144132 genome.wustl.edu 37 11 6593126 6593126 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144666.2 +1 provisional p.N4724 0.391 327 0.3% 176 27.3% 6 50% - - - HMMPfam_Dynein_heavy RRP8 23378 genome.wustl.edu 37 11 6622574 6622574 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015324.2 -1 provisional p.R241H 1.000 42 0% 28 14.3% 25 32% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_Methyltransf_8 RRP8 23378 genome.wustl.edu 37 11 6623432 6623432 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015324.2 -1 provisional p.R38H 0.665 78 0% 50 12% 14 7.1% benign(0.002) deleterious(0) neutral(0.445) NULL TPP1 1200 genome.wustl.edu 37 11 6640652 6640652 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000453338 -1 known p.A3S 0.362 348 0% 136 10.3% 0 - - - - NULL DCHS1 8642 genome.wustl.edu 37 11 6644937 6644937 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003737.2 -1 reviewed p.G2657D 0.980 68 0% 45 11.1% 10 10% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin DCHS1 8642 genome.wustl.edu 37 11 6651015 6651015 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003737.2 -1 reviewed p.D1641 0.944 44 0% 21 38.1% 7 0% - - - HMMSmart_CA,superfamily_Cadherin DCHS1 8642 genome.wustl.edu 37 11 6653279 6653279 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003737.2 -1 reviewed p.R1155H 1.000 78 0% 43 30.2% 1 0% probably_damaging(0.993) tolerated(0.08) deleterious(0.750) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin DCHS1 8642 genome.wustl.edu 37 11 6655525 6655525 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003737.2 -1 reviewed p.D604Y 1.000 242 0% 134 26.1% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin OR10A4 283297 genome.wustl.edu 37 11 6898655 6898655 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207186.2 +1 validated p.T259 0.592 444 0.5% 283 31.4% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 SYT9 143425 genome.wustl.edu 37 11 7441849 7441849 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175733.3 +1 validated p.W484R 1.000 223 0% 132 28.8% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_C2_CaLB OLFML1 283298 genome.wustl.edu 37 11 7530690 7530690 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198474.3 +1 validated p.T160 0.763 518 0% 329 27.7% 0 - - - - HMMPfam_OLF,HMMSmart_SM00284 OLFML1 283298 genome.wustl.edu 37 11 7530991 7530991 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198474.3 +1 validated p.V261I 0.046 212 0% 113 16.8% 0 - benign(0.001) tolerated(0.33) neutral(0.024) HMMPfam_OLF,HMMSmart_SM00284 PPFIBP2 8495 genome.wustl.edu 37 11 7652210 7652210 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003621.2 +1 validated p.S340N 0.999 408 0% 208 26.4% 4 50% benign(0) tolerated(0.09) neutral(0.296) NULL OVCH2 341277 genome.wustl.edu 37 11 7712508 7712508 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198185.2 -1 validated p.P544H 0.122 66 0% 51 37.3% 0 - benign(0) tolerated(0.12) neutral(0.261) superfamily_Spermadhesin CUB domain OVCH2 341277 genome.wustl.edu 37 11 7716368 7716368 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198185.2 -1 validated p.S445N 1.000 22 0% 17 41.2% 0 - probably_damaging(0.996) tolerated(0.12) deleterious(0.722) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain OVCH2 341277 genome.wustl.edu 37 11 7718311 7718311 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198185.2 -1 validated p.A321T 0.000 108 0% 58 20.7% 0 - benign(0.001) tolerated(0.6) neutral(0.004) HMMSmart_SM00042,superfamily_Spermadhesin CUB domain NLRP10 338322 genome.wustl.edu 37 11 7982612 7982612 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_176821.3 -1 reviewed p.A183T 0.609 133 0% 75 22.7% 0 - benign(0.061) tolerated(0.2) neutral(0.053) HMMPfam_NACHT,superfamily_SSF52540 EIF3F 8665 genome.wustl.edu 37 11 8016556 8016556 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003754.2 +1 validated p.S258I 0.997 230 0% 126 23% 569 28.6% benign(0.042) deleterious(0.03) neutral(0.367) NULL RIC3 79608 genome.wustl.edu 37 11 8161624 8161624 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024557.3 -1 validated p.G81* 1.000 397 0% 273 29.7% 0 - - - - NULL RIC3 79608 genome.wustl.edu 37 11 8161725 8161725 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024557.3 -1 validated p.F47C 1.000 307 0% 208 13% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL LMO1 4004 genome.wustl.edu 37 11 8246187 8246187 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002315.1 -1 reviewed p.G149 1.000 12 0.000 9 0.444 0 - - - - NULL LMO1 4004 genome.wustl.edu 37 11 8252034 8252034 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002315.1 -1 reviewed p.V15I 1.000 127 0% 51 29.4% 0 - benign(0.005) tolerated(0.53) neutral(0.007) NULL ST5 6764 genome.wustl.edu 37 11 8724243 8724243 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005418.3 -1 reviewed p.D866Y 1.000 157 0.6% 80 28.7% 31 32.2% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_DENN,HMMSmart_SM00799 ASCL3 56676 genome.wustl.edu 37 11 8959343 8959343 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020646.1 -1 provisional p.E122D 0.997 284 0% 144 26.4% 0 - benign(0.088) tolerated(0.47) neutral(0.017) HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain NRIP3 56675 genome.wustl.edu 37 11 9009770 9009770 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020645.2 -1 validated p.S78 0.987 321 0% 222 28.8% 0 - - - - NULL DENND5A 23258 genome.wustl.edu 37 11 9173909 9173909 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015213.2 -1 validated p.T839 0.990 390 0.5% 245 11.8% 40 10% - - - HMMPfam_RUN SBF2 81846 genome.wustl.edu 37 11 9803131 9803131 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030962.3 -1 reviewed p.A1792T 1.000 320 0% 159 29.6% 8 50% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like SBF2 81846 genome.wustl.edu 37 11 9853898 9853898 + Nonsense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030962.3 -1 reviewed p.Y1175* 1.000 250 0% 158 35.4% 11 18.1% - - - HMMPfam_Myotub-related,superfamily_(Phosphotyrosine protein) phosphatases II SBF2 81846 genome.wustl.edu 37 11 9853909 9853909 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030962.3 -1 reviewed p.A1172T 0.996 262 0% 157 10.2% 12 50% benign(0.383) deleterious(0.02) deleterious(0.506) HMMPfam_Myotub-related,superfamily_(Phosphotyrosine protein) phosphatases II ADM 133 genome.wustl.edu 37 11 10328148 10328148 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001124.1 +1 reviewed p.A173D 0.000 17 0.000 9 0.444 132 50% unknown(0) deleterious(0) - HMMPfam_Adrenomedullin AMPD3 272 genome.wustl.edu 37 11 10483244 10483244 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000480.2 +1 reviewed p.Q69* 1.000 113 0% 60 15% 1 0% - - - NULL AMPD3 272 genome.wustl.edu 37 11 10527394 10527394 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000480.2 +1 reviewed p.A765D 1.000 187 0% 92 32.6% 4 100% probably_damaging(0.997) deleterious(0.03) deleterious(0.831) NULL MRVI1 10335 genome.wustl.edu 37 11 10647910 10647910 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098579.1 -1 reviewed p.G315D 0.023 48 0% 24 20.8% 0 - probably_damaging(0.977) deleterious(0.03) deleterious(0.783) HMMPfam_MRVI1 CTR9 9646 genome.wustl.edu 37 11 10785276 10785276 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014633.3 +1 provisional p.G348 1.000 299 0.3% 200 25.5% 35 62.8% - - - HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452 CTR9 9646 genome.wustl.edu 37 11 10794117 10794117 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014633.3 +1 provisional p.R832H 1.000 107 0% 64 9.4% 70 18.5% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL GALNTL4 374378 genome.wustl.edu 37 11 11362396 11362396 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198516.2 -1 validated p.H416 0.995 1284 0.3% 723 26.3% 3 0% - - - superfamily_Nucleotide-diphospho-sugar transferases GALNTL4 374378 genome.wustl.edu 37 11 11454265 11454265 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198516.2 -1 validated p.A166 0.000 66 0% 27 18.5% 4 0% - - - HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases FAR1 84188 genome.wustl.edu 37 11 13749178 13749178 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032228.5 +1 validated p.V445I 1.000 187 0% 138 34.1% 8 62.5% benign(0.176) tolerated(1) neutral(0.016) HMMPfam_Sterile SPON1 10418 genome.wustl.edu 37 11 14287081 14287081 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000310358 +1 known p.R757C 1.000 53 0% 36 27.8% 4 25% probably_damaging(0.986) deleterious(0.01) deleterious(0.840) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat COPB1 1315 genome.wustl.edu 37 11 14487883 14487883 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001144061.1 -1 reviewed p.V745 1.000 311 0% 220 11.8% 279 25% - - - HMMPfam_Coatamer_beta_C PSMA1 5682 genome.wustl.edu 37 11 14535413 14535413 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_148976.2 -1 reviewed p.R128* 0.855 157 0% 95 11.6% 322 3.4% - - - HMMPfam_Proteasome,superfamily_SSF56235 PDE3B 5140 genome.wustl.edu 37 11 14856557 14856557 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000922.3 +1 validated p.L746I 1.000 230 0% 119 24.4% 1 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_PDEase_I,HMMSmart_SM00471,superfamily_HD-domain/PDEase-like SOX6 55553 genome.wustl.edu 37 11 16010764 16010764 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017508.2 -1 reviewed p.M558T 1.000 103 0% 64 29.7% 0 - benign(0) tolerated(0.4) neutral(0.016) NULL PLEKHA7 144100 genome.wustl.edu 37 11 16848083 16848083 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175058.4 -1 validated p.S309 0.974 137 0% 57 15.8% 5 0% - - - NULL PIK3C2A 5286 genome.wustl.edu 37 11 17150988 17150988 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002645.2 -1 validated p.Q753R 0.999 248 0% 144 29.9% 3 66.6% benign(0.007) tolerated(0.76) neutral(0.001) HMMSmart_SM00239,HMMPfam_PI3K_C2,HMMSmart_SM00142,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) NUCB2 4925 genome.wustl.edu 37 11 17332749 17332749 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005013.2 +1 validated p.D227Y 1.000 571 0% 372 13.4% 88 20.4% probably_damaging(1) tolerated(0.05) deleterious(0.845) NULL KCNJ11 3767 genome.wustl.edu 37 11 17408534 17408534 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000525.3 -1 reviewed p.R369C 0.994 41 0% 19 26.3% 11 36.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ABCC8 6833 genome.wustl.edu 37 11 17470189 17470189 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000352.3 -1 reviewed p.L402 1.000 324 0% 197 24.9% 1 0% - - - HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain USH1C 10083 genome.wustl.edu 37 11 17547986 17547986 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153676.3 -1 reviewed p.G194 0.000 50 0% 12 41.7% 0 - - - - superfamily_PDZ MRGPRX3 117195 genome.wustl.edu 37 11 18158885 18158885 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_054031.3 +1 reviewed p.A46T 0.951 301 0% 141 10.6% 0 - benign(0.333) tolerated(0.1) neutral(0.391) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MRGPRX3 117195 genome.wustl.edu 37 11 18159006 18159006 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_054031.3 +1 reviewed p.R86H 0.000 314 0% 167 29.9% 0 - benign(0.026) tolerated(0.54) neutral(0.009) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SAA2 6289 genome.wustl.edu 37 11 18269467 18269467 + Splice_Site SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030754.3 -1 validated e1+1 0.990 159 0% 65 15.4% 0 - - - - - SAA1 6288 genome.wustl.edu 37 11 18288489 18288489 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000331.4 +1 reviewed p.R19* 0.000 221 0% 118 28% 9 0% - - - NULL HPS5 11234 genome.wustl.edu 37 11 18332396 18332396 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181507.1 -1 reviewed p.G123 1.000 211 0% 133 33.1% 5 60% - - - superfamily_WD40 repeat-like MRGPRX1 259249 genome.wustl.edu 37 11 18955913 18955913 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_147199.3 -1 provisional p.A140V 0.003 138 0% 60 11.7% 0 - benign(0.035) tolerated(0.11) neutral(0.274) HMMPfam_7tm_1,superfamily_SSF81321 MRGPRX1 259249 genome.wustl.edu 37 11 18993925 18993925 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000412783 -1 known p.G109C 0.028 134 0% 52 36.5% 0 - - - - HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like MRGPRX2 117194 genome.wustl.edu 37 11 19077037 19077037 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_054030.2 -1 provisional p.Q305* 0.898 199 0% 128 21.9% 0 - - - - NULL E2F8 79733 genome.wustl.edu 37 11 19246386 19246386 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024680.2 -1 validated p.P808H 1.000 137 0.7% 70 10% 7 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL E2F8 79733 genome.wustl.edu 37 11 19247142 19247142 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024680.2 -1 validated p.S683A 0.991 334 0% 202 28.7% 15 53.3% possibly_damaging(0.671) tolerated(0.23) neutral(0.279) NULL E2F8 79733 genome.wustl.edu 37 11 19251279 19251279 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024680.2 -1 validated p.G539C 1.000 189 0% 98 29.6% 5 60% probably_damaging(0.985) deleterious(0.03) deleterious(0.796) NULL NAV2 89797 genome.wustl.edu 37 11 19955130 19955130 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182964.5 +1 validated p.R447H 0.898 102 0% 61 13.1% 2 0% possibly_damaging(0.783) deleterious(0.02) deleterious(0.676) NULL NAV2 89797 genome.wustl.edu 37 11 20127104 20127104 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182964.5 +1 validated p.E2227 1.000 104 0% 53 26.4% 9 55.5% - - - HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases NAV2 89797 genome.wustl.edu 37 11 20127175 20127175 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182964.5 +1 validated p.R2251H 1.000 96 0% 46 39.1% 16 50% probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL PRMT3 10196 genome.wustl.edu 37 11 20429518 20429518 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005788.3 +1 validated p.A278V 1.000 240 0% 148 28.4% 8 75% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Methyltransf_11,superfamily_S-adenosyl-L-methionine-dependent methyltransferases PRMT3 10196 genome.wustl.edu 37 11 20486022 20486022 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005788.3 +1 validated p.T426M 0.507 140 0% 92 28.3% 13 38.4% possibly_damaging(0.793) deleterious(0.01) deleterious(0.704) superfamily_S-adenosyl-L-methionine-dependent methyltransferases SLC6A5 9152 genome.wustl.edu 37 11 20628552 20628552 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004211.3 +1 reviewed e4-1 1.000 181 0% 71 39.4% 0 - - - - - NELL1 4745 genome.wustl.edu 37 11 20982002 20982002 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006157.3 +1 reviewed p.P399H 1.000 337 0% 214 19.6% 0 - benign(0) tolerated(1) - HMMSmart_SM00179,HMMSmart_SM00181,superfamily_EGF/Laminin ANO5 203859 genome.wustl.edu 37 11 22247577 22247577 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_213599.2 +1 reviewed p.E114D 0.780 120 0% 98 27.6% 0 - benign(0.028) tolerated(0.23) neutral(0.043) NULL ANO5 203859 genome.wustl.edu 37 11 22283681 22283681 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_213599.2 +1 reviewed p.P546H 1.000 342 0% 265 14.7% 0 - probably_damaging(1) tolerated(0.05) deleterious(0.845) NULL SLC17A6 57084 genome.wustl.edu 37 11 22381073 22381073 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020346.2 +1 validated p.E191D 1.000 116 0% 80 33.8% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter SVIP 258010 genome.wustl.edu 37 11 22849410 22849410 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_148893.1 -1 provisional p.R22I 1.000 146 0.7% 63 15.9% 57 24.5% benign(0.17) deleterious(0) neutral(0.460) NULL LGR4 55366 genome.wustl.edu 37 11 27406951 27406951 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018490.2 -1 validated p.R156W 0.995 153 0% 110 19.1% 48 41.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LRR_1,superfamily_SSF52058 BDNF 627 genome.wustl.edu 37 11 27679696 27679696 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001143810.1 -1 reviewed p.S221I 1.000 295 0% 148 24.3% 1 0% possibly_damaging(0.931) deleterious(0) deleterious(0.822) HMMPfam_NGF,HMMSmart_NGF,superfamily_SSF57501 BDNF 627 genome.wustl.edu 37 11 27680061 27680061 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001143810.1 -1 reviewed p.K99N 1.000 361 0.3% 163 10.4% 1 0% possibly_damaging(0.605) deleterious(0.01) deleterious(0.615) NULL KIF18A 81930 genome.wustl.edu 37 11 28080525 28080525 + Silent SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031217.3 -1 validated p.I632 0.760 752 0.1% 624 28.7% 8 0% - - - NULL KCNA4 3739 genome.wustl.edu 37 11 30033616 30033616 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002233.2 -1 reviewed p.D204Y 0.994 420 0% 231 29.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain MPPED2 744 genome.wustl.edu 37 11 30601839 30601839 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001584.2 -1 reviewed p.H28N 1.000 307 0.3% 202 19.3% 24 50% possibly_damaging(0.677) tolerated(0.5) neutral(0.251) NULL DNAJC24 120526 genome.wustl.edu 37 11 31447891 31447891 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181706.4 +1 validated p.S103Y 1.000 96 0% 58 20.7% 4 50% possibly_damaging(0.92) tolerated(0.08) deleterious(0.671) superfamily_Chaperone J-domain,HMMPfam_zf-CSL IMMP1L 196294 genome.wustl.edu 37 11 31455021 31455021 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144981.1 -1 provisional p.R140* 1.000 255 0% 207 25.6% 28 39.2% - - - superfamily_Pept_S24_S26_C ELP4 26610 genome.wustl.edu 37 11 31625384 31625384 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019040.3 +1 reviewed p.I195F 0.004 209 0% 166 30.7% 27 40.7% possibly_damaging(0.691) tolerated(0.64) neutral(0.251) HMMPfam_PAXNEB CCDC73 493860 genome.wustl.edu 37 11 32637619 32637619 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001008391.2 -1 validated p.N414 0.001 93 0% 83 34.9% 0 - - - - NULL QSER1 79832 genome.wustl.edu 37 11 32977616 32977616 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001076786.1 +1 provisional p.Y1438C 1.000 383 0% 210 30% 19 63.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TCP11L1 55346 genome.wustl.edu 37 11 33080510 33080510 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001145541.1 +1 validated p.I215N 0.992 273 0% 162 34% 6 16.6% possibly_damaging(0.908) deleterious(0) deleterious(0.806) HMMPfam_Tcp11 TCP11L1 55346 genome.wustl.edu 37 11 33090276 33090276 + Missense_Mutation SNP G G C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001145541.1 +1 validated p.V400L 0.996 88 0% 42 16.7% 13 15.3% benign(0.009) tolerated(0.11) neutral(0.272) HMMPfam_Tcp11 C11orf41 25758 genome.wustl.edu 37 11 33566440 33566440 + Silent SNP C C T rs138956370 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012194.1 +1 validated p.A676 0.000 109 0% 59 32.2% 6 33.3% - - - NULL C11orf41 25758 genome.wustl.edu 37 11 33566739 33566739 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012194.1 +1 validated p.R776H 0.893 352 0.3% 208 10.6% 8 12.5% benign(0.091) tolerated(0.08) neutral(0.306) NULL CAPRIN1 4076 genome.wustl.edu 37 11 34101202 34101202 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005898.4 +1 validated p.R239H 1.000 160 0% 115 30.4% 186 47.3% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL NAT10 55226 genome.wustl.edu 37 11 34129833 34129833 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024662.2 +1 validated p.R21W 0.999 660 0% 398 24.1% 20 40% probably_damaging(0.982) deleterious(0.02) deleterious(0.809) NULL CAT 847 genome.wustl.edu 37 11 34492943 34492943 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001752.3 +1 reviewed p.G516E 0.026 203 0% 114 32.5% 108 36.1% possibly_damaging(0.649) deleterious(0.03) deleterious(0.593) NULL CD44 960 genome.wustl.edu 37 11 35218348 35218348 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000428726 +1 known p.P219H 0.000 128 0% 99 22.2% 0 - - - - NULL CD44 960 genome.wustl.edu 37 11 35250855 35250855 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000610.3 +1 reviewed p.N735T 0.983 243 0% 183 29.5% 64 20.3% probably_damaging(0.98) deleterious(0.02) deleterious(0.807) NULL SLC1A2 6506 genome.wustl.edu 37 11 35336639 35336639 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004171.3 -1 reviewed p.P81T 1.000 223 0.4% 103 24.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_SDF,PatternScan_NA_DICARBOXYL_SYMP_1 TRAF6 7189 genome.wustl.edu 37 11 36511925 36511925 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004620.2 -1 reviewed p.I344 0.981 753 0% 466 30.3% 5 40% - - - NULL RAG1 5896 genome.wustl.edu 37 11 36596348 36596348 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000448.2 +1 reviewed p.Q498H 1.000 475 0% 258 25.6% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL RAG1 5896 genome.wustl.edu 37 11 36596928 36596928 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000448.2 +1 reviewed p.L692F 0.926 199 0% 114 32.5% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL RAG1 5896 genome.wustl.edu 37 11 36597014 36597014 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000448.2 +1 reviewed p.G720 0.990 304 0% 192 25% 0 - - - - NULL RAG1 5896 genome.wustl.edu 37 11 36597072 36597072 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000448.2 +1 reviewed p.A740S 1.000 313 0% 180 12.2% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL ALKBH3 221120 genome.wustl.edu 37 11 43923247 43923247 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_139178.3 +1 validated p.T214I 0.001 213 0% 96 31.2% 2 0% benign(0.001) tolerated(0.43) neutral(0.013) NULL ACCS 84680 genome.wustl.edu 37 11 44100322 44100322 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001127219.1 +1 validated p.V274A 0.985 131 0% 63 23.8% 2 0% benign(0.001) tolerated(0.7) neutral(0.002) HMMPfam_Aminotran_1_2,superfamily_PyrdxlP-dep_Trfase_major CD82 3732 genome.wustl.edu 37 11 44626903 44626903 + Splice_Site SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002231.3 +1 reviewed e4-2 1.000 65 0% 26 23.1% 1 100% - - - - TP53I11 9537 genome.wustl.edu 37 11 44957127 44957127 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001076787.1 -1 validated p.G141R 0.955 135 0% 51 13.7% 9 0% possibly_damaging(0.787) tolerated(0.09) deleterious(0.591) NULL PRDM11 56981 genome.wustl.edu 37 11 45241270 45241270 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020229.2 +1 validated p.S269I 1.000 34 0% 14 35.7% 0 - probably_damaging(1) tolerated(0.13) deleterious(0.752) NULL DGKZ 8525 genome.wustl.edu 37 11 46397920 46397920 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001105540.1 +1 reviewed p.L900M 1.000 78 0% 44 40.9% 56 26.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CHRM4 1132 genome.wustl.edu 37 11 46407172 46407172 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000741.2 -1 reviewed p.E312D 0.995 27 0% 13 38.5% 0 - benign(0.001) tolerated(0.34) neutral(0.023) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HARBI1 283254 genome.wustl.edu 37 11 46637545 46637545 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173811.3 -1 validated p.T81 0.897 247 0% 145 23.4% 3 33.3% - - - NULL ATG13 9776 genome.wustl.edu 37 11 46679102 46679102 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142673.1 +1 validated p.G209R 1.000 288 0% 146 27.4% 28 25% possibly_damaging(0.741) tolerated(0.43) neutral(0.285) HMMPfam_DUF2224 ZNF408 79797 genome.wustl.edu 37 11 46726891 46726891 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024741.2 +1 validated p.T547 0.001 18 0% 11 63.6% 36 55.5% - - - superfamily_SSF57667 CKAP5 9793 genome.wustl.edu 37 11 46806073 46806073 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001008938.1 -1 validated p.A707T 1.000 580 0% 396 31.8% 77 33.7% probably_damaging(0.991) deleterious(0) deleterious(0.889) superfamily_ARM repeat CKAP5 9793 genome.wustl.edu 37 11 46819669 46819669 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001008938.1 -1 validated p.Q379H 1.000 367 0% 238 18.1% 45 22.2% probably_damaging(0.986) deleterious(0.04) deleterious(0.783) superfamily_ARM repeat CKAP5 9793 genome.wustl.edu 37 11 46837837 46837837 + Missense_Mutation SNP C C T rs78408136 byCluster;by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001008938.1 -1 validated p.A124T 1.000 251 0% 145 26.9% 31 38.7% benign(0.005) tolerated(0.33) neutral(0.024) superfamily_ARM repeat C11orf49 79096 genome.wustl.edu 37 11 47008801 47008801 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001003677.1 +1 validated p.Q30R 1.000 566 0.4% 329 28.3% 9 22.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ARFGAP2 84364 genome.wustl.edu 37 11 47193283 47193283 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032389.3 -1 provisional p.Q247H 1.000 172 0.6% 100 31% 61 45.9% unknown(0) tolerated(0.25) - NULL DDB2 1643 genome.wustl.edu 37 11 47259476 47259476 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000107.2 +1 reviewed p.T371M 1.000 178 0% 100 31% 39 69.2% probably_damaging(1) tolerated(0.2) deleterious(0.549) superfamily_WD40 repeat-like NR1H3 10062 genome.wustl.edu 37 11 47283507 47283507 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005693.2 +1 validated p.G309E 0.978 530 0% 239 30.5% 31 12.9% benign(0) tolerated(1) - HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain MADD 8567 genome.wustl.edu 37 11 47348337 47348337 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003682.3 +1 reviewed p.V1591I 1.000 118 0% 53 24.5% 20 25% possibly_damaging(0.947) tolerated(0.65) neutral(0.394) NULL MYBPC3 4607 genome.wustl.edu 37 11 47353626 47353626 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000256.3 -1 reviewed p.R1271* 1.000 36 0% 17 23.5% 0 - - - - superfamily_SSF48726 MYBPC3 4607 genome.wustl.edu 37 11 47364235 47364235 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000256.3 -1 reviewed p.D506 0.919 63 3.2% 29 17.2% 0 - - - - HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 PTPMT1 114971 genome.wustl.edu 37 11 47593141 47593141 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175732.2 +1 validated p.R189L 0.000 237 0% 90 23.3% 98 44.8% benign(0.021) tolerated(0.23) neutral(0.043) NULL KBTBD4 55709 genome.wustl.edu 37 11 47594833 47594833 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018095.4 -1 validated p.C418* 1.000 260 0% 136 29.4% 44 25% - - - HMMPfam_Kelch_1,superfamily_Galactose oxidase central domain AGBL2 79841 genome.wustl.edu 37 11 47712252 47712252 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024783.2 -1 validated p.M336T 1.000 524 0.2% 334 27.2% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL FNBP4 23360 genome.wustl.edu 37 11 47776108 47776108 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015308.2 -1 validated p.I141S 1.000 601 0% 373 10.5% 28 25% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL NUP160 23279 genome.wustl.edu 37 11 47814369 47814369 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015231.1 -1 validated p.A1140V 1.000 420 0.2% 211 32.2% 33 39.3% probably_damaging(0.956) tolerated(0.09) deleterious(0.696) NULL NUP160 23279 genome.wustl.edu 37 11 47858499 47858499 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015231.1 -1 validated p.E294 0.995 560 0% 337 23.7% 18 44.4% - - - NULL NUP160 23279 genome.wustl.edu 37 11 47861967 47861967 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015231.1 -1 validated p.R163M 0.997 914 0% 501 27.7% 20 55% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PTPRJ 5795 genome.wustl.edu 37 11 48146721 48146721 + Missense_Mutation SNP C C T rs150197673 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002843.3 +1 reviewed p.A359V 0.000 173 0% 87 23% 5 60% benign(0.017) tolerated(0.12) neutral(0.261) NULL PTPRJ 5795 genome.wustl.edu 37 11 48149331 48149331 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002843.3 +1 reviewed e7-1 0.996 271 0% 135 24.4% 0 - - - - - LOC283116 283116 genome.wustl.edu 37 11 49059034 49059034 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_208043.4 +1 model p.H288 0.049 225 0% 131 29.8% 0 - - - - NULL LOC283116 283116 genome.wustl.edu 37 11 49059299 49059299 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_208043.4 +1 model p.L377I 0.001 530 0.2% 302 27.8% 0 - benign(0.001) tolerated(0.74) neutral(0.002) HMMPfam_SPRY FOLH1 2346 genome.wustl.edu 37 11 49170249 49170249 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004476.1 -1 reviewed p.M669L 1.000 151 0% 94 14.9% 36 44.4% probably_damaging(0.994) tolerated(0.12) deleterious(0.713) HMMPfam_TFR_dimer,superfamily_Transferrin receptor ectodomain C-terminal domain FOLH1 2346 genome.wustl.edu 37 11 49214400 49214400 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004476.1 -1 reviewed p.N153S 1.000 200 0% 138 20.3% 50 30% benign(0.03) deleterious(0.03) neutral(0.366) superfamily_Transferrin receptor ectodomain apical domain ENSG00000123447 0 genome.wustl.edu 37 11 49437200 49437200 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000243152 -1 known p.P36S 1.000 128 0% 104 25% 0 - - - - superfamily_Di-copper_centre ENSG00000205035 0 genome.wustl.edu 37 11 49598433 49598433 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000357667 +1 known p.T211 0.998 153 0% 65 27.7% 0 - - - - HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I TRIM48 79097 genome.wustl.edu 37 11 55038046 55038046 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000357530 +1 known p.W254* 0.419 183 0% 150 22% 0 - - - - NULL OR4A16 81327 genome.wustl.edu 37 11 55110920 55110920 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005274.1 +1 provisional p.D82Y 0.675 508 0.2% 442 30.3% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_7tm_1,superfamily_SSF81321 OR4A15 81328 genome.wustl.edu 37 11 55136281 55136281 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005275.1 +1 provisional p.P308T 0.534 765 0.5% 681 27.2% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_7tm_1,superfamily_SSF81321 ENSG00000181943 0 genome.wustl.edu 37 11 55259482 55259482 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000314657 +1 known p.S255Y 0.000 293 0% 200 17.5% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4P4 81300 genome.wustl.edu 37 11 55406465 55406465 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004124.1 +1 provisional p.V211A 0.000 160 0% 133 59.4% 0 - possibly_damaging(0.921) tolerated(0.13) deleterious(0.623) HMMPfam_7tm_1,superfamily_SSF81321 OR5D14 219436 genome.wustl.edu 37 11 55563064 55563064 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004735.1 +1 provisional p.E11D 0.001 254 0% 177 22% 0 - benign(0) deleterious(0.01) neutral(0.406) superfamily_SSF81321 OR5W2 390148 genome.wustl.edu 37 11 55681306 55681306 + Missense_Mutation SNP G G T rs142170371 TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001960.1 -1 provisional p.F251L 0.998 298 0% 137 29.9% 0 - benign(0.347) tolerated(0.17) neutral(0.169) HMMPfam_7tm_1,superfamily_SSF81321 OR5I1 10798 genome.wustl.edu 37 11 55703149 55703149 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006637.1 -1 reviewed p.C243Y 1.000 119 0% 88 28.4% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_7tm_1,superfamily_SSF81321 OR5F1 338674 genome.wustl.edu 37 11 55761831 55761831 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003697.1 -1 provisional p.T91A 0.000 347 0.3% 226 23% 0 - benign(0.235) tolerated(0.52) neutral(0.032) HMMPfam_7tm_1,superfamily_SSF81321 OR8I2 120586 genome.wustl.edu 37 11 55860814 55860814 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001003750.1 +1 provisional p.V11I 0.000 431 0% 382 14.1% 0 - benign(0.006) deleterious(0) neutral(0.445) superfamily_Family A G protein-coupled receptor-like OR5J2 282775 genome.wustl.edu 37 11 55944758 55944758 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005492.1 +1 provisional p.A222D 0.000 305 0% 207 26.6% 0 - probably_damaging(0.955) deleterious(0) deleterious(0.843) HMMPfam_7tm_1,superfamily_SSF81321 OR5T2 219464 genome.wustl.edu 37 11 56000245 56000245 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004746.1 -1 provisional p.Q139H 0.161 612 0.2% 440 29.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 OR5T1 390155 genome.wustl.edu 37 11 56043454 56043454 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004745.1 +1 provisional p.F114V 0.000 736 0% 513 31.4% 0 - possibly_damaging(0.764) deleterious(0.03) deleterious(0.648) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ENSG00000230416 0 genome.wustl.edu 37 11 56216255 56216255 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000415874 +1 known p.V38M 0.003 315 0% 231 24.2% 0 - - - - superfamily_Family A G protein-coupled receptor-like ENSG00000230416 0 genome.wustl.edu 37 11 56217059 56217059 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000415874 +1 known p.S304 0.082 289 0% 261 28% 0 - - - - superfamily_Family A G protein-coupled receptor-like OR5M3 219482 genome.wustl.edu 37 11 56237222 56237222 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004742.1 -1 provisional p.G251D 0.001 270 0% 204 32.4% 0 - possibly_damaging(0.949) deleterious(0) deleterious(0.838) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5M3 219482 genome.wustl.edu 37 11 56237630 56237630 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004742.1 -1 provisional p.A115V 1.000 479 0.2% 382 27% 0 - benign(0) tolerated(0.79) neutral(0.001) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like OR5M11 219487 genome.wustl.edu 37 11 56309939 56309939 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005245.1 -1 provisional p.K265 0.718 334 0.3% 206 22.8% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR5M10 390167 genome.wustl.edu 37 11 56344882 56344882 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004741.1 -1 provisional p.A106T 0.001 333 0% 176 31.2% 0 - benign(0.017) tolerated(0.69) neutral(0.003) HMMPfam_7tm_1,superfamily_SSF81321 OR5AP2 338675 genome.wustl.edu 37 11 56409081 56409081 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001002925.1 -1 provisional p.V279I 0.906 308 0% 157 24.8% 0 - benign(0.007) tolerated(0.8) neutral(0.001) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR5AK2 390181 genome.wustl.edu 37 11 56756821 56756821 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005323.1 +1 provisional p.V145I 0.030 678 0.1% 497 34.2% 0 - benign(0.078) tolerated(0.47) neutral(0.017) HMMPfam_7tm_1,superfamily_SSF81321 OR5AK2 390181 genome.wustl.edu 37 11 56757098 56757098 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005323.1 +1 provisional p.S237F 1.000 653 0.2% 458 36.9% 0 - benign(0.367) deleterious(0) deleterious(0.561) HMMPfam_7tm_1,superfamily_SSF81321 APLNR 187 genome.wustl.edu 37 11 57004320 57004320 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005161.4 -1 reviewed p.V53 0.990 151 0% 81 19.8% 2 0% - - - HMMPfam_7tm_1,superfamily_SSF81321 TNKS1BP1 85456 genome.wustl.edu 37 11 57068456 57068456 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033396.2 -1 validated p.S1677 0.000 235 0% 104 30.8% 124 25% - - - NULL SSRP1 6749 genome.wustl.edu 37 11 57094914 57094914 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003146.2 -1 reviewed p.G619 0.644 297 0.3% 196 29.1% 181 39.7% - - - NULL UBE2L6 9246 genome.wustl.edu 37 11 57321910 57321910 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004223.3 -1 reviewed p.V104F 1.000 133 0% 93 21.5% 49 2% probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMPfam_UQ_con,HMMSmart_SM00212,superfamily_UBC-like YPEL4 219539 genome.wustl.edu 37 11 57413844 57413844 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145008.2 -1 validated p.L74I 1.000 76 1.3% 34 29.4% 0 - benign(0.003) tolerated(0.3) neutral(0.029) HMMPfam_Yippee ZDHHC5 25921 genome.wustl.edu 37 11 57457893 57457893 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015457.2 +1 validated p.R215H 1.000 421 0.2% 225 34.2% 92 44.5% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL CTNND1 1500 genome.wustl.edu 37 11 57575697 57575697 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001085458.1 +1 validated p.S675N 1.000 284 0% 158 31% 62 56.4% possibly_damaging(0.947) deleterious(0.01) deleterious(0.796) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat CTNND1 1500 genome.wustl.edu 37 11 57575928 57575928 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001085458.1 +1 validated p.T720A 1.000 460 0% 235 28.9% 85 52.9% benign(0.026) tolerated(0.15) neutral(0.242) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat OR6Q1 219952 genome.wustl.edu 37 11 57799049 57799049 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005186.2 +1 validated p.A209T 0.001 347 0% 212 30.7% 0 - benign(0) tolerated(0.28) neutral(0.032) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR10W1 81341 genome.wustl.edu 37 11 58034580 58034580 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207374.3 -1 validated p.L251M 1.000 172 0% 108 24.1% 0 - probably_damaging(0.998) tolerated(0.06) deleterious(0.797) HMMPfam_7tm_1,superfamily_SSF81321 ZFP91 80829 genome.wustl.edu 37 11 58379202 58379202 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_053023.3 +1 reviewed p.P283H 1.000 303 0% 186 21% 30 30% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL ZFP91 80829 genome.wustl.edu 37 11 58381795 58381795 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_053023.3 +1 reviewed p.R361* 1.000 322 0% 234 29.1% 43 16.2% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CNTF 1270 genome.wustl.edu 37 11 58390264 58390264 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000614.3 +1 reviewed p.R13 0.998 122 0% 71 29.6% 0 - - - - HMMPfam_CNTF,superfamily_4-helical cytokines GLYATL2 219970 genome.wustl.edu 37 11 58605788 58605788 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145016.3 -1 validated p.V44 0.290 143 0% 84 25% 83 55.4% - - - HMMPfam_Gly_acyl_tr_N,superfamily_Acyl-CoA N-acyltransferases (Nat) FAM111B 374393 genome.wustl.edu 37 11 58892352 58892352 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198947.3 +1 validated p.G261E 0.003 432 0% 315 27.3% 3 66.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL FAM111B 374393 genome.wustl.edu 37 11 58892857 58892857 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198947.3 +1 validated p.K429 0.000 563 0% 380 27.4% 12 25% - - - superfamily_Trypsin-like serine proteases FAM111B 374393 genome.wustl.edu 37 11 58893622 58893622 + Silent SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198947.3 +1 validated p.G684 0.014 466 0% 307 25.7% 10 10% - - - superfamily_Trypsin-like serine proteases FAM111A 63901 genome.wustl.edu 37 11 58919530 58919530 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142519.1 +1 validated p.G130V 0.141 295 0% 158 28.5% 31 38.7% probably_damaging(0.998) tolerated(0.06) deleterious(0.797) NULL DTX4 23220 genome.wustl.edu 37 11 58967193 58967193 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015177.1 +1 validated p.A525T 1.000 24 0% 20 35% 1 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL ENSG00000225802 0 genome.wustl.edu 37 11 59022989 59022989 + Missense_Mutation SNP C C T rs147719882 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000455673 +1 known p.A50V 1.000 17 0.000 5 0.800 0 - - - - superfamily_Nucleotidylyl transferase OSBP 5007 genome.wustl.edu 37 11 59344413 59344413 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002556.2 -1 reviewed p.R716W 1.000 692 0.1% 388 24.5% 45 42.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Oxysterol_BP PATL1 219988 genome.wustl.edu 37 11 59419112 59419112 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152716.2 -1 validated p.Q477* 1.000 57 0% 54 27.8% 13 15.3% - - - HMMPfam_PAT1 PATL1 219988 genome.wustl.edu 37 11 59419949 59419949 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152716.2 -1 validated p.A472T 0.589 258 0.4% 157 16.6% 12 8.3% benign(0.01) tolerated(1) neutral(0.001) HMMPfam_PAT1 PATL1 219988 genome.wustl.edu 37 11 59421493 59421493 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152716.2 -1 validated p.R362C 1.000 261 0% 146 23.3% 23 52.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PAT1 STX3 6809 genome.wustl.edu 37 11 59559656 59559656 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004177.4 +1 reviewed p.S145N 1.000 149 0% 65 27.7% 39 58.9% probably_damaging(0.994) tolerated(0.28) deleterious(0.484) HMMSmart_SM00503,superfamily_t-snare proteins MS4A4A 51338 genome.wustl.edu 37 11 60073583 60073583 + Missense_Mutation SNP G G C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_148975.1 +1 reviewed p.G186A 0.000 218 0% 106 34.9% 12 0% benign(0.043) tolerated(0.74) neutral(0.004) HMMPfam_CD20 MS4A14 84689 genome.wustl.edu 37 11 60164183 60164183 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032597.3 +1 validated p.V44 0.038 163 0% 97 35.1% 0 - - - - NULL MS4A14 84689 genome.wustl.edu 37 11 60167904 60167904 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032597.3 +1 validated p.T99A 0.000 187 0% 112 14.3% 0 - benign(0.001) tolerated(0.75) neutral(0.002) HMMPfam_CD20 MS4A14 84689 genome.wustl.edu 37 11 60183151 60183151 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032597.3 +1 validated p.I237N 0.000 481 0% 411 14.8% 1 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL MS4A14 84689 genome.wustl.edu 37 11 60183681 60183681 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032597.3 +1 validated p.A414T 0.000 259 0% 207 34.3% 1 0% benign(0.065) tolerated(0.28) neutral(0.036) NULL ZP1 22917 genome.wustl.edu 37 11 60638698 60638698 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207341.2 +1 validated p.G341 0.000 46 0% 19 31.6% 0 - - - - HMMPfam_Zona_pellucida,HMMSmart_ZP ZP1 22917 genome.wustl.edu 37 11 60638758 60638758 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207341.2 +1 validated p.Q361H 0.001 29 0% 24 37.5% 0 - benign(0.015) tolerated(0.71) neutral(0.002) HMMPfam_Zona_pellucida,HMMSmart_ZP PRPF19 27339 genome.wustl.edu 37 11 60666737 60666737 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014502.4 -1 validated p.I290V 1.000 76 0% 34 20.6% 241 39.4% benign(0) tolerated(1) - HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 TMEM109 79073 genome.wustl.edu 37 11 60687314 60687314 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024092.2 +1 validated p.P50Q 0.066 236 0% 84 16.7% 130 44.6% possibly_damaging(0.898) deleterious(0.01) deleterious(0.760) NULL TMEM109 79073 genome.wustl.edu 37 11 60689493 60689493 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024092.2 +1 validated p.Y196 0.996 39 0% 11 45.5% 100 34% - - - NULL TMEM132A 54972 genome.wustl.edu 37 11 60703356 60703356 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017870.3 +1 reviewed p.W684* 1.000 118 0% 65 30.8% 76 39.4% - - - NULL VPS37C 55048 genome.wustl.edu 37 11 60901511 60901511 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017966.4 -1 validated p.L88M 1.000 118 0% 51 25.5% 38 34.2% probably_damaging(0.996) deleterious(0.04) deleterious(0.810) HMMPfam_Mod_r DDB1 1642 genome.wustl.edu 37 11 61069806 61069806 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001923.3 -1 validated p.S1046R 1.000 294 0% 162 27.8% 253 44.2% benign(0.005) tolerated(0.08) neutral(0.300) HMMPfam_CPSF_A DDB1 1642 genome.wustl.edu 37 11 61096944 61096944 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001923.3 -1 validated p.R147H 1.000 358 0% 204 28.9% 93 53.7% possibly_damaging(0.899) tolerated(0.14) deleterious(0.605) NULL CPSF7 79869 genome.wustl.edu 37 11 61183697 61183697 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024811.3 -1 validated p.P325H 1.000 134 0% 70 32.9% 66 37.8% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL PPP1R32 220004 genome.wustl.edu 37 11 61254449 61254449 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145017.2 +1 validated p.S288 0.989 281 0.4% 143 32.9% 5 40% - - - NULL SYT7 9066 genome.wustl.edu 37 11 61295443 61295443 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004200.2 -1 validated p.T189I 1.000 68 0% 36 22.2% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB DAGLA 747 genome.wustl.edu 37 11 61488266 61488266 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006133.1 +1 validated p.I71V 1.000 44 0% 18 22.2% 0 - benign(0.048) tolerated(0.24) neutral(0.041) NULL DAGLA 747 genome.wustl.edu 37 11 61507977 61507977 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006133.1 +1 validated p.G632 0.039 100 0% 45 11.1% 0 - - - - NULL C11orf9 745 genome.wustl.edu 37 11 61551783 61551783 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001127392.1 +1 validated p.S1076C 1.000 33 0% 23 34.8% 4 50% possibly_damaging(0.75) deleterious(0.01) deleterious(0.681) NULL INCENP 3619 genome.wustl.edu 37 11 61897802 61897802 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001040694.1 +1 validated p.D268G 0.021 95 0% 58 27.6% 17 29.4% probably_damaging(0.999) tolerated(0.25) deleterious(0.527) NULL INCENP 3619 genome.wustl.edu 37 11 61919403 61919403 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001040694.1 +1 validated p.G904 0.018 82 0% 45 31.1% 15 40% - - - NULL SCGB2A1 4246 genome.wustl.edu 37 11 61978062 61978062 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002407.2 +1 validated p.G78E 0.000 397 0% 241 29.5% 193 3.1% benign(0.075) tolerated(1) neutral(0.005) HMMPfam_Uteroglobin,superfamily_Secretoglobin ASRGL1 80150 genome.wustl.edu 37 11 62159729 62159729 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001083926.1 +1 validated p.D300 0.000 120 0% 59 16.9% 49 26.5% - - - HMMPfam_Asparaginase_2,superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) AHNAK 79026 genome.wustl.edu 37 11 62286716 62286716 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001620.1 -1 validated p.P5058L 0.447 663 0% 313 24% 171 38.5% probably_damaging(1) tolerated(0.31) deleterious(0.527) NULL AHNAK 79026 genome.wustl.edu 37 11 62289309 62289309 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001620.1 -1 validated p.P4194S 1.000 830 0.1% 454 26% 129 34.8% probably_damaging(1) tolerated(0.09) deleterious(0.796) NULL AHNAK 79026 genome.wustl.edu 37 11 62295162 62295162 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001620.1 -1 validated p.M2243V 1.000 895 0% 469 11.3% 41 12.1% possibly_damaging(0.891) tolerated(0.47) neutral(0.361) NULL AHNAK 79026 genome.wustl.edu 37 11 62298473 62298473 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001620.1 -1 validated p.L1139H 0.931 302 0% 178 13.5% 13 15.3% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL AHNAK 79026 genome.wustl.edu 37 11 62301509 62301509 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001620.1 -1 validated p.T127M 0.999 37 0% 22 36.4% 5 0% probably_damaging(0.969) deleterious(0.03) deleterious(0.776) NULL EEF1G 1937 genome.wustl.edu 37 11 62338440 62338440 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001404.4 -1 reviewed p.K173 1.000 584 0% 336 32.1% 3490 36.2% - - - HMMPfam_GST_C,superfamily_Glutathione S-transferase (GST) C-terminal domain MTA2 9219 genome.wustl.edu 37 11 62362756 62362756 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004739.2 -1 reviewed p.A488V 1.000 210 0% 93 22.6% 142 47.8% benign(0.001) tolerated(0.51) neutral(0.009) NULL EML3 256364 genome.wustl.edu 37 11 62376884 62376884 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153265.2 -1 validated p.R234C 1.000 68 0% 44 20.5% 18 27.7% probably_damaging(0.994) deleterious(0.04) deleterious(0.801) HMMPfam_HELP ROM1 6094 genome.wustl.edu 37 11 62381197 62381197 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000327.3 +1 reviewed p.E148D 1.000 68 0% 31 16.1% 1 0% possibly_damaging(0.892) tolerated(1) neutral(0.351) superfamily_Tetraspanin,HMMPfam_Tetraspannin TMEM179B 374395 genome.wustl.edu 37 11 62556810 62556810 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_199337.2 +1 validated p.V111I 0.884 116 0% 44 22.7% 205 40.9% benign(0) tolerated(0.79) neutral(0.001) NULL TMEM223 79064 genome.wustl.edu 37 11 62558182 62558182 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080501.2 -1 validated p.R174 0.972 22 0% 17 41.2% 27 48.1% - - - NULL NXF1 10482 genome.wustl.edu 37 11 62561828 62561828 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006362.4 -1 reviewed p.T554 0.636 130 0% 76 10.5% 164 21.3% - - - superfamily_UBA_like,superfamily_SSF54427 NXF1 10482 genome.wustl.edu 37 11 62569083 62569083 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006362.4 -1 reviewed p.Y220 0.922 371 0% 190 36.8% 55 40% - - - superfamily_SSF52058 LOC100287736 100287736 genome.wustl.edu 37 11 63033554 63033554 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002343091.1 -1 model p.V59F 0.000 57 0% 36 16.7% 0 - - - - NULL SLC22A10 387775 genome.wustl.edu 37 11 63067070 63067070 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001039752.3 +1 validated p.R347C 0.007 236 0% 158 27.2% 0 - possibly_damaging(0.896) tolerated(0.09) deleterious(0.650) HMMPfam_MFS_1,superfamily_MFS general substrate transporter ATL3 25923 genome.wustl.edu 37 11 63410893 63410893 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015459.3 -1 validated p.C262 0.994 140 0% 86 23.3% 35 48.5% - - - HMMPfam_GBP,superfamily_P-loop containing nucleoside triphosphate hydrolases OTUB1 55611 genome.wustl.edu 37 11 63764119 63764119 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017670.2 +1 reviewed p.R113W 1.000 124 0% 49 20.4% 182 20.3% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Peptidase_C65,superfamily_Cysteine proteinases FLRT1 23769 genome.wustl.edu 37 11 63884476 63884476 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013280.4 +1 reviewed p.R246H 0.997 31 0% 14 28.6% 0 - probably_damaging(0.999) tolerated(0.43) deleterious(0.504) HMMSmart_SM00369,superfamily_L domain-like FLRT1 23769 genome.wustl.edu 37 11 63884753 63884753 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013280.4 +1 reviewed p.W338* 1.000 50 0% 29 31% 1 0% - - - HMMSmart_SM00082,superfamily_L domain-like STIP1 10963 genome.wustl.edu 37 11 63961713 63961713 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006819.2 +1 validated p.A91D 1.000 215 0% 132 26.5% 137 47.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452 PLCB3 5331 genome.wustl.edu 37 11 64023238 64023238 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000932.2 +1 reviewed p.R215W 1.000 45 0% 30 16.7% 23 56.5% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_EF-hand PRDX5 25824 genome.wustl.edu 37 11 64088167 64088167 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012094.3 +1 reviewed p.A114D 0.789 57 0% 37 29.7% 401 38.9% benign(0.002) tolerated(0.45) neutral(0.012) superfamily_Thioredoxin-like,HMMPfam_Redoxin CCDC88B 283234 genome.wustl.edu 37 11 64121210 64121210 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032251.5 +1 reviewed p.R1286H 0.133 247 0% 89 32.6% 4 50% unknown(0) - - NULL RPS6KA4 8986 genome.wustl.edu 37 11 64138775 64138775 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003942.2 +1 reviewed p.R714 0.665 45 0% 25 36% 9 33.3% - - - NULL NRXN2 9379 genome.wustl.edu 37 11 64402911 64402911 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015080.2 -1 reviewed p.Y1139 1.000 23 0% 13 46.2% 5 0% - - - superfamily_Concanavalin A-like lectins/glucanases RASGRP2 10235 genome.wustl.edu 37 11 64507577 64507577 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098670.1 -1 reviewed p.R144C 1.000 62 0% 32 18.8% 2 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_Ras GEF PYGM 5837 genome.wustl.edu 37 11 64525752 64525752 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005609.2 -1 reviewed p.G165V 1.000 101 0% 65 26.2% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Phosphorylase,superfamily_SSF53756 LOC100287827 100287827 genome.wustl.edu 37 11 64622237 64622237 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002343094.1 +1 model p.R88S 0.061 158 0% 76 30.3% 46 26% - - - NULL CDCA5 113130 genome.wustl.edu 37 11 64850979 64850979 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080668.3 -1 validated p.R62M 1.000 137 0% 62 29% 25 32% benign(0.113) deleterious(0.05) neutral(0.354) HMMPfam_Sororin ZFPL1 7542 genome.wustl.edu 37 11 64852657 64852657 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006782.3 +1 validated p.I58T 0.001 113 0% 52 23.1% 71 56.3% benign(0) tolerated(0.62) neutral(0.004) HMMSmart_RING ZFPL1 7542 genome.wustl.edu 37 11 64854491 64854491 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006782.3 +1 validated p.G191 0.470 27 0% 13 38.5% 90 38.8% - - - NULL SYVN1 84447 genome.wustl.edu 37 11 64899748 64899748 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_172230.2 -1 reviewed p.A168T 1.000 112 0% 60 10% 68 5.8% benign(0.264) tolerated(0.27) neutral(0.061) NULL TIGD3 220359 genome.wustl.edu 37 11 65124096 65124096 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145719.2 +1 reviewed p.L273M 0.002 37 0% 14 64.3% 1 0% benign(0.068) tolerated(0.24) neutral(0.042) NULL RELA 5970 genome.wustl.edu 37 11 65423203 65423203 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021975.3 -1 validated p.R330H 1.000 104 0% 61 13.1% 416 7.9% probably_damaging(0.999) tolerated(0.07) deleterious(0.809) NULL MUS81 80198 genome.wustl.edu 37 11 65631351 65631351 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025128.4 +1 validated p.D346 0.886 55 0% 22 22.7% 35 40% - - - HMMPfam_ERCC4,superfamily_Restrict_endonuc_II-like_core SART1 9092 genome.wustl.edu 37 11 65746326 65746326 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005146.4 +1 reviewed p.K775N 1.000 74 0% 31 45.2% 47 38.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CATSPER1 117144 genome.wustl.edu 37 11 65784545 65784545 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_053054.3 -1 reviewed p.D768N 0.195 34 0% 20 35% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL KLC2 64837 genome.wustl.edu 37 11 66031154 66031154 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001134775.1 +1 validated p.A259D 1.000 175 0% 66 33.3% 44 31.8% probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_TPR_1,PatternScan_KINESIN_LIGHT,HMMSmart_TPR,superfamily_SSF48452 RAB1B 81876 genome.wustl.edu 37 11 66043384 66043384 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030981.2 +1 validated p.V130A 1.000 23 0.000 7 0.571 241 31.5% unknown(0) tolerated(0.06) - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMSmart_SM00177,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases CNIH2 254263 genome.wustl.edu 37 11 66050743 66050743 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182553.1 +1 provisional p.G112 1.000 70 0% 29 13.8% 4 0% - - - HMMPfam_Cornichon RIN1 9610 genome.wustl.edu 37 11 66100858 66100858 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004292.2 -1 validated p.L582 0.169 18 0.000 9 0.556 6 50% - - - HMMPfam_VPS9,HMMSmart_SM00167,superfamily_VPS9 domain (Pfam 02204) NPAS4 266743 genome.wustl.edu 37 11 66192548 66192548 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178864.3 +1 validated p.G729 0.962 107 0% 53 26.4% 0 - - - - NULL BBS1 582 genome.wustl.edu 37 11 66294216 66294216 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024649.4 +1 reviewed p.N426I 0.988 267 0% 102 21.6% 24 29.1% possibly_damaging(0.933) deleterious(0.03) deleterious(0.744) NULL ACTN3 89 genome.wustl.edu 37 11 66323693 66323693 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001104.1 +1 reviewed p.A266T 1.000 213 0% 109 29.4% 0 - benign(0.155) tolerated(0.07) neutral(0.333) superfamily_Calponin-homology domain CH-domain ACTN3 89 genome.wustl.edu 37 11 66328120 66328120 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001104.1 +1 reviewed p.I585T 1.000 79 0% 40 25% 0 - possibly_damaging(0.836) deleterious(0.01) deleterious(0.725) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat CTSF 8722 genome.wustl.edu 37 11 66333158 66333158 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003793.3 -1 reviewed p.S343 0.000 136 0% 53 26.4% 53 26.4% - - - HMMPfam_Peptidase_C1,HMMSmart_Pept_C1,superfamily_SSF54001 CCDC87 55231 genome.wustl.edu 37 11 66359310 66359310 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018219.2 -1 validated p.H393Y 0.000 64 0% 24 37.5% 0 - benign(0) tolerated(0.36) neutral(0.020) NULL CCDC87 55231 genome.wustl.edu 37 11 66359431 66359431 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018219.2 -1 validated p.I352 0.000 64 0% 35 25.7% 2 0% - - - NULL RBM14 10432 genome.wustl.edu 37 11 66392887 66392887 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006328.3 +1 validated p.A514T 1.000 76 0% 53 34% 66 34.8% unknown(0) deleterious(0.02) - NULL SPTBN2 6712 genome.wustl.edu 37 11 66460189 66460189 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006946.2 -1 reviewed p.A1670T 1.000 145 0% 50 20% 18 50% possibly_damaging(0.675) deleterious(0.04) deleterious(0.589) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTBN2 6712 genome.wustl.edu 37 11 66469143 66469143 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006946.2 -1 reviewed p.A910T 0.964 107 0% 52 36.5% 12 41.6% benign(0.002) tolerated(0.65) neutral(0.003) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat PC 5091 genome.wustl.edu 37 11 66617721 66617721 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000920.3 -1 reviewed p.E896D 1.000 57 0% 38 39.5% 11 54.5% benign(0) tolerated(0.19) neutral(0.050) HMMPfam_PYC_OADA,superfamily_SSF89000 SYT12 91683 genome.wustl.edu 37 11 66812121 66812121 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_177963.3 +1 reviewed p.R299C 1.000 32 0% 21 28.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_C2,superfamily_C2_CaLB KDM2A 22992 genome.wustl.edu 37 11 66947569 66947569 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012308.2 +1 reviewed p.R21H 1.000 134 0% 87 34.5% 12 66.6% benign(0.229) tolerated(0.16) neutral(0.082) NULL SSH3 54961 genome.wustl.edu 37 11 67077318 67077318 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017857.3 +1 validated p.K430E 1.000 45 0% 27 22.2% 18 16.6% probably_damaging(0.984) deleterious(0.01) deleterious(0.836) HMMPfam_DSPc,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II CLCF1 23529 genome.wustl.edu 37 11 67132735 67132735 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013246.2 -1 reviewed p.D184N 0.997 41 0% 22 18.2% 8 0% probably_damaging(0.98) deleterious(0.01) deleterious(0.830) superfamily_4_helix_cytokine,HMMPfam_PRF GSTP1 2950 genome.wustl.edu 37 11 67352640 67352640 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000398606 +1 known p.A88 0.400 24 0% 14 50% 844 32.3% - - - superfamily_GST_C_like TBX10 347853 genome.wustl.edu 37 11 67400498 67400498 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005995.3 -1 provisional p.R209H 1.000 109 0% 79 31.6% 1 100% probably_damaging(0.993) deleterious(0.03) deleterious(0.815) HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd ACY3 91703 genome.wustl.edu 37 11 67413233 67413233 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080658.1 -1 validated p.N121S 1.000 36 2.8% 12 50% 7 14.2% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_AstE_AspA CHKA 1119 genome.wustl.edu 37 11 67842271 67842271 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001277.2 -1 reviewed p.S181 0.994 130 0% 79 36.7% 21 38% - - - HMMPfam_Choline_kinase,superfamily_Protein kinase-like (PK-like) SUV420H1 51111 genome.wustl.edu 37 11 67953362 67953362 + Missense_Mutation SNP C C T rs188627113 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017635.3 -1 reviewed p.R65H 1.000 248 0% 129 27.1% 31 35.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL C11orf24 53838 genome.wustl.edu 37 11 68029247 68029247 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022338.3 -1 validated p.L406M 1.000 62 0% 25 40% 55 34.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL LRP5 4041 genome.wustl.edu 37 11 68157419 68157419 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002335.2 +1 reviewed p.R495C 0.206 77 0% 34 23.5% 18 44.4% possibly_damaging(0.732) tolerated(0.14) deleterious(0.517) HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain MTL5 9633 genome.wustl.edu 37 11 68475877 68475877 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004923.3 -1 reviewed p.S476P 0.886 192 0% 112 20.5% 14 42.8% possibly_damaging(0.525) tolerated(0.07) deleterious(0.496) NULL CPT1A 1374 genome.wustl.edu 37 11 68579905 68579905 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001876.3 -1 reviewed p.A94V 0.984 226 0% 93 29% 22 36.3% benign(0.011) tolerated(0.5) neutral(0.011) NULL IGHMBP2 3508 genome.wustl.edu 37 11 68675700 68675700 + Missense_Mutation SNP C C T rs181657861 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002180.2 +1 reviewed p.T115M 0.257 223 0% 93 23.7% 5 0% possibly_damaging(0.824) deleterious(0.01) deleterious(0.718) NULL ANO1 55107 genome.wustl.edu 37 11 70007755 70007755 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018043.5 +1 validated p.E603G 1.000 114 0% 49 16.3% 164 51.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL OR7E87P 8586 genome.wustl.edu 37 11 71304708 71304708 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000329336 +1 known p.A94D 0.228 73 0% 32 28.1% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 LOC100131539 100131539 genome.wustl.edu 37 11 71527737 71527738 + Frame_Shift_Ins INS - - A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_001723234.2 -1 model p.N241fs 0.000:0.000 - - - - - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers NUMA1 4926 genome.wustl.edu 37 11 71725779 71725779 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006185.2 -1 validated p.R924C 0.992 87 0% 36 13.9% 113 22.1% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL ENSG00000251143 0 genome.wustl.edu 37 11 71727738 71727738 + RNA SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000502284 +1 known NULL 0.000 34 0% 25 28% 0 - - - - - FOLR2 2350 genome.wustl.edu 37 11 71927946 71927946 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000321324 +1 known p.L2I 0.001 84 0% 43 14% 3 0% possibly_damaging(0.615) deleterious(0) deleterious(0.658) NULL INPPL1 3636 genome.wustl.edu 37 11 71943739 71943739 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001567.3 +1 reviewed p.D594 1.000 91 0% 38 23.7% 117 47% - - - HMMSmart_IPPc,HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos CLPB 81570 genome.wustl.edu 37 11 72013351 72013351 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030813.3 -1 provisional p.H418 0.834 178 0% 84 28.6% 26 53.8% - - - HMMSmart_SM00382,HMMPfam_AAA_2,superfamily_P-loop containing nucleoside triphosphate hydrolases CLPB 81570 genome.wustl.edu 37 11 72114097 72114097 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030813.3 -1 provisional e3-1 0.997 247 0% 143 31.5% 9 100% - - - - P2RY6 5031 genome.wustl.edu 37 11 73007611 73007611 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004154.3 +1 reviewed p.T16 0.046 219 0% 105 24.8% 2 0% - - - superfamily_SSF81321 P2RY6 5031 genome.wustl.edu 37 11 73008084 73008084 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004154.3 +1 reviewed p.R174H 1.000 86 0% 36 25% 6 0% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_7tm_1,superfamily_SSF81321 ARHGEF17 9828 genome.wustl.edu 37 11 73021152 73021152 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014786.3 +1 validated p.P490H 0.000 47 0% 29 31% 6 33.3% probably_damaging(0.986) deleterious(0) deleterious(0.879) NULL RNF169 254225 genome.wustl.edu 37 11 74547321 74547321 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098638.1 +1 validated p.K558M 0.004 217 0% 137 25.5% 8 50% possibly_damaging(0.716) tolerated(0.06) deleterious(0.582) NULL UVRAG 7405 genome.wustl.edu 37 11 75590931 75590931 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003369.3 +1 reviewed p.T93 0.033 792 0.1% 424 30% 1 0% - - - HMMSmart_C2,superfamily_C2_CaLB UVRAG 7405 genome.wustl.edu 37 11 75852336 75852336 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003369.3 +1 reviewed p.A660D 1.000 93 0% 29 24.1% 8 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PRKRIR 5612 genome.wustl.edu 37 11 76063044 76063044 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004705.2 -1 provisional p.I384V 0.992 395 0% 253 17.4% 36 36.1% benign(0) tolerated(0.63) neutral(0.004) NULL TSKU 25987 genome.wustl.edu 37 11 76507209 76507209 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015516.3 +1 validated p.A183 0.000 79 0% 43 32.6% 467 44.1% - - - superfamily_SSF52047 ACER3 55331 genome.wustl.edu 37 11 76637712 76637712 + Splice_Site SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018367.5 +1 validated e2+1 1.000 204 0% 181 40.9% 0 - - - - - KCTD14 65987 genome.wustl.edu 37 11 77727937 77727937 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_023930.3 -1 validated p.R157H 0.070 160 0% 108 19.4% 2 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ALG8 79053 genome.wustl.edu 37 11 77820569 77820569 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024079.4 -1 reviewed p.G319 0.991 265 0% 137 19.7% 79 45.5% unknown(0) - - HMMPfam_Alg6_Alg8 GAB2 9846 genome.wustl.edu 37 11 77937596 77937596 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080491.2 -1 reviewed p.P374 0.000 135 0% 67 22.4% 7 42.8% - - - NULL GAB2 9846 genome.wustl.edu 37 11 77937700 77937700 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080491.2 -1 reviewed p.T340S 0.799 101 0% 56 23.2% 7 28.5% benign(0.011) tolerated(0.72) neutral(0.002) NULL ODZ4 26011 genome.wustl.edu 37 11 78380111 78380111 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098816.2 -1 validated p.R2427C 1.000 75 0% 40 22.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ODZ4 26011 genome.wustl.edu 37 11 78380498 78380498 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098816.2 -1 validated p.R2298W 0.953 124 0% 48 25% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RHS_repeat PCF11 51585 genome.wustl.edu 37 11 82874869 82874869 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015885.3 +1 validated p.T156M 1.000 79 0% 61 13.1% 3 0% probably_damaging(0.954) tolerated(0.1) deleterious(0.684) NULL PCF11 51585 genome.wustl.edu 37 11 82882913 82882913 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015885.3 +1 validated p.L1238 1.000 202 0% 135 25.9% 14 35.7% - - - NULL DLG2 1740 genome.wustl.edu 37 11 83770367 83770367 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142699.1 -1 reviewed p.G304C 1.000 388 0% 284 26.4% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDZ,superfamily_PDZ domain-like SYTL2 54843 genome.wustl.edu 37 11 85418560 85418560 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_206927.2 -1 reviewed p.Y1010C 1.000 480 0% 298 26.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) SYTL2 54843 genome.wustl.edu 37 11 85445167 85445167 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032943.3 -1 reviewed p.V401A 0.000 444 0% 239 31.8% 1 0% benign(0) tolerated(0.69) neutral(0.002) NULL CCDC81 60494 genome.wustl.edu 37 11 86131053 86131053 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021827.4 +1 validated p.A502V 0.000 175 0% 87 13.8% 1 0% benign(0) tolerated(0.29) neutral(0.029) NULL ME3 10873 genome.wustl.edu 37 11 86152451 86152451 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001014811.1 -1 reviewed p.A562D 1.000 259 0% 149 25.5% 6 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_NAD(P)-bd PRSS23 11098 genome.wustl.edu 37 11 86519563 86519563 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007173.4 +1 validated p.R293H 1.000 150 0.7% 87 27.6% 55 23.6% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Trypsin-like serine proteases GRM5 2915 genome.wustl.edu 37 11 88301097 88301097 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001143831.2 -1 reviewed p.V585A 1.000 99 0% 61 32.8% 0 - benign(0.309) tolerated(0.44) neutral(0.109) HMMPfam_7tm_3 GRM5 2915 genome.wustl.edu 37 11 88780469 88780469 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001143831.2 -1 reviewed p.V191A 0.999 191 0% 107 19.6% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I GRM5 2915 genome.wustl.edu 37 11 88781019 88781019 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001143831.2 -1 reviewed p.S8P 1.000 93 0% 54 20.4% 0 - unknown(0) tolerated(0.37) - NULL FOLH1B 219595 genome.wustl.edu 37 11 89424315 89424315 + Splice_Site SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153696.2 +1 provisional e9+1 1.000 337 0% 229 34.9% 0 - - - - - ENSG00000234376 0 genome.wustl.edu 37 11 89486968 89486968 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000411859 -1 known p.C56Y 0.990 383 0% 290 19.7% 0 - - - - NULL LOC653111 653111 genome.wustl.edu 37 11 89768707 89768707 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_926073.2 +1 model p.L110M 0.144 186 0% 111 12.6% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_zf-B_box,HMMSmart_SM00336 ENSG00000214391 0 genome.wustl.edu 37 11 90016350 90016350 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000318973 +1 known p.Q175H 1.000 501 0.2% 321 28.7% 121 0% - - - HMMPfam_Tubulin,superfamily_Tubulin_FtsZ FAT3 120114 genome.wustl.edu 37 11 92086977 92086977 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001008781.2 +1 validated p.R567* 0.109 173 0% 153 26.1% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92088308 92088308 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001008781.2 +1 validated p.V1010 0.985 139 0% 102 13.7% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92532208 92532208 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001008781.2 +1 validated p.R2010H 1.000 374 0% 262 28.2% 0 - benign(0.026) tolerated(0.67) neutral(0.004) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92532623 92532623 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001008781.2 +1 validated p.D2148 0.997 90 0% 53 34% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like FAT3 120114 genome.wustl.edu 37 11 92539627 92539627 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001008781.2 +1 validated p.R3065* 1.000 31 0% 26 26.9% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like HEPHL1 341208 genome.wustl.edu 37 11 93844921 93844921 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098672.1 +1 validated p.A1114V 1.000 604 0.2% 388 10.8% 0 - possibly_damaging(0.647) deleterious(0) deleterious(0.671) NULL PIWIL4 143689 genome.wustl.edu 37 11 94341805 94341805 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152431.2 +1 validated p.D632 0.000 595 0% 405 25.4% 1 0% - - - HMMPfam_Piwi,superfamily_Ribonuclease H-like KDM4D 55693 genome.wustl.edu 37 11 94731711 94731711 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018039.2 +1 validated p.R392H 0.000 105 1% 69 29% 2 50% possibly_damaging(0.554) tolerated(0.09) deleterious(0.485) NULL CEP57 9702 genome.wustl.edu 37 11 95555716 95555716 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014679.3 +1 validated p.G287 0.983 178 0% 99 20.2% 52 40.3% - - - HMMPfam_DUF1167 CCDC82 79780 genome.wustl.edu 37 11 96098144 96098144 + Missense_Mutation SNP C C A rs143571415 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024725.3 -1 validated p.Q460H 1.000 187 0% 121 19.8% 3 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL CCDC82 79780 genome.wustl.edu 37 11 96117177 96117177 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024725.3 -1 validated p.E245 0.989 288 0% 218 11.5% 3 0% - - - NULL CNTN5 53942 genome.wustl.edu 37 11 99827719 99827719 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014361.2 +1 reviewed p.T285 0.572 123 0% 96 28.1% 0 - - - - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin CNTN5 53942 genome.wustl.edu 37 11 100170108 100170108 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014361.2 +1 reviewed p.V867A 1.000 259 0% 186 30.6% 0 - benign(0.111) deleterious(0.01) neutral(0.414) superfamily_Fibronectin type III TRPC6 7225 genome.wustl.edu 37 11 101342014 101342014 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004621.5 -1 reviewed p.P770Q 1.000 381 0% 290 29% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL YAP1 10413 genome.wustl.edu 37 11 102098228 102098228 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130145.1 +1 reviewed p.T398A 1.000 159 0% 103 29.1% 90 35.5% probably_damaging(0.987) tolerated(0.36) neutral(0.457) NULL MMP20 9313 genome.wustl.edu 37 11 102487788 102487788 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004771.3 -1 reviewed p.A43 0.005 127 0% 77 27.3% 0 - - - - HMMPfam_PG_binding_1,superfamily_PGBD-like MMP3 4314 genome.wustl.edu 37 11 102706888 102706888 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002422.3 -1 reviewed p.T468I 0.000 233 0% 167 41.3% 1 0% benign(0) tolerated(0.43) neutral(0.013) superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120 MMP13 4322 genome.wustl.edu 37 11 102826141 102826141 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002427.3 -1 reviewed p.L68I 1.000 527 0% 336 34.5% 0 - possibly_damaging(0.754) tolerated(0.7) neutral(0.280) HMMPfam_PG_binding_1,superfamily_PGBD_like DYNC2H1 79659 genome.wustl.edu 37 11 102980357 102980357 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080463.1 +1 reviewed p.Q18H 0.977 61 0% 28 21.4% 0 - benign(0) tolerated(0.15) neutral(0.241) NULL PDGFD 80310 genome.wustl.edu 37 11 103797744 103797744 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025208.4 -1 reviewed p.R295C 1.000 120 0% 89 27% 6 83.3% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_PDGF,superfamily_Cystine-knot cytokines CASP5 838 genome.wustl.edu 37 11 104871208 104871208 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001136112.1 -1 reviewed p.V257 0.000 334 0% 211 29.4% 0 - - - - HMMPfam_Peptidase_C14,HMMSmart_SM00115,superfamily_Caspase-like CASP5 838 genome.wustl.edu 37 11 104874092 104874092 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001136112.1 -1 reviewed p.A164V 0.000 269 0% 160 30% 0 - possibly_damaging(0.952) tolerated(0.13) deleterious(0.648) NULL CARD17 440068 genome.wustl.edu 37 11 104971460 104971460 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001007232.1 -1 provisional p.G18 0.000 1131 0% 924 26.6% 0 - - - - HMMPfam_CARD,HMMSmart_CARD,superfamily_DEATH_like GRIA4 2893 genome.wustl.edu 37 11 105836687 105836687 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001077243.2 +1 reviewed p.L770F 1.000 120 0% 71 21.1% 0 - probably_damaging(1) tolerated(0.11) deleterious(0.772) HMMPfam_Lig_chan,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II GUCY1A2 2977 genome.wustl.edu 37 11 106558424 106558424 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000855.1 -1 validated p.D684Y 1.000 412 0% 284 29.2% 1 0% probably_damaging(0.989) deleterious(0.04) deleterious(0.788) HMMPfam_Guanylate_cyc,superfamily_Adenylyl and guanylyl cyclase catalytic domain GUCY1A2 2977 genome.wustl.edu 37 11 106849418 106849418 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000855.1 -1 validated p.S138 1.000 238 0% 173 13.9% 2 0% - - - HMMPfam_HNOB CWF19L2 143884 genome.wustl.edu 37 11 107197780 107197780 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152434.2 -1 validated e18-1 1.000 596 0% 381 13.4% 0 - - - - - CWF19L2 143884 genome.wustl.edu 37 11 107309826 107309826 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152434.2 -1 validated p.S218 0.844 103 0% 47 29.8% 3 0% - - - NULL SLC35F2 54733 genome.wustl.edu 37 11 107663427 107663427 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017515.4 -1 validated p.V347M 0.649 76 0% 42 45.2% 50 58% benign(0.003) tolerated(0.05) neutral(0.345) HMMPfam_DUF914 CUL5 8065 genome.wustl.edu 37 11 107960288 107960288 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003478.3 +1 validated p.R461C 1.000 190 0% 106 23.6% 7 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cullin,HMMSmart_SM00182,superfamily_Cullin homology domain ATM 472 genome.wustl.edu 37 11 108126973 108126973 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000051.3 +1 reviewed p.S719* 0.944 170 0% 114 36.8% 4 25% - - - superfamily_ARM repeat ATM 472 genome.wustl.edu 37 11 108172483 108172483 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000051.3 +1 reviewed p.A1762 0.623 244 0% 155 29% 4 75% - - - superfamily_ARM repeat C11orf65 160140 genome.wustl.edu 37 11 108276267 108276267 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152587.3 -1 validated p.G150D 0.000 271 0% 162 30.9% 0 - benign(0.001) tolerated(0.65) neutral(0.003) NULL DDX10 1662 genome.wustl.edu 37 11 108594090 108594090 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004398.2 +1 reviewed p.Q622H 0.972 402 0% 280 30.4% 24 45.8% benign(0) tolerated(0.15) neutral(0.241) NULL POU2AF1 5450 genome.wustl.edu 37 11 111229608 111229608 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006235.2 -1 validated p.P18S 1.000 53 0% 31 29% 3 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_PD-C2-AF1 BTG4 54766 genome.wustl.edu 37 11 111365926 111365926 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017589.2 -1 reviewed p.H208Q 0.000 338 0% 207 25.1% 0 - benign(0.014) tolerated(0.18) neutral(0.057) NULL LOC728196 728196 genome.wustl.edu 37 11 111383991 111383991 + RNA SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XR_040780.2 +1 model NULL 0.056 22 0% 10 60% 0 - - - - - LOC728196 728196 genome.wustl.edu 37 11 111384090 111384090 + RNA SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XR_040780.2 +1 model NULL 0.000 43 0% 21 57.1% 0 - - - - - LAYN 143903 genome.wustl.edu 37 11 111420416 111420416 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178834.3 +1 provisional p.A153T 0.021 174 0% 83 28.9% 2 0% benign(0.245) tolerated(0.11) neutral(0.297) HMMPfam_Lectin_C,HMMSmart_CLECT,superfamily_C-type_lectin_fold DLAT 1737 genome.wustl.edu 37 11 111899602 111899602 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001931.4 +1 reviewed p.A198D 1.000 247 0.4% 144 22.9% 63 42.8% possibly_damaging(0.895) tolerated(0.13) deleterious(0.605) NULL TTC12 54970 genome.wustl.edu 37 11 113234589 113234589 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017868.3 +1 validated p.L586 0.280 262 0.4% 128 21.1% 8 87.5% - - - superfamily_ARM-type_fold ANKK1 255239 genome.wustl.edu 37 11 113264368 113264368 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178510.1 +1 reviewed p.W117* 1.000 162 0% 59 40.7% 0 - - - - superfamily_Kinase_like,HMMPfam_Pkinase DRD2 1813 genome.wustl.edu 37 11 113283547 113283547 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000795.3 -1 reviewed p.P290L 0.986 34 0% 19 36.8% 0 - benign(0.057) tolerated(0.12) neutral(0.264) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like USP28 57646 genome.wustl.edu 37 11 113675639 113675639 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020886.2 -1 validated p.R844* 0.999 200 0% 93 14% 4 75% - - - NULL HTR3A 3359 genome.wustl.edu 37 11 113857689 113857689 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_213621.3 +1 reviewed p.W385C 0.153 98 0% 57 26.3% 0 - benign(0.006) tolerated(0.19) neutral(0.050) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM NNMT 4837 genome.wustl.edu 37 11 114167411 114167411 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006169.2 +1 reviewed p.L45I 0.548 310 0% 180 23.9% 6 0% benign(0.02) deleterious(0.05) neutral(0.346) HMMPfam_NNMT_PNMT_TEMT,superfamily_S-adenosyl-L-methionine-dependent methyltransferases NNMT 4837 genome.wustl.edu 37 11 114182820 114182820 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006169.2 +1 reviewed p.L139P 0.995 96 0% 49 36.7% 19 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NNMT_PNMT_TEMT,superfamily_S-adenosyl-L-methionine-dependent methyltransferases FAM55D 54827 genome.wustl.edu 37 11 114451048 114451048 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001077639.1 -1 validated p.A302V 0.000 310 1% 245 23.7% 2 0% benign(0.018) tolerated(0.28) neutral(0.032) NULL SIDT2 51092 genome.wustl.edu 37 11 117059507 117059507 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001040455.1 +1 validated p.D415N 1.000 188 0% 126 16.7% 21 42.8% possibly_damaging(0.748) deleterious(0.01) deleterious(0.680) NULL RNF214 257160 genome.wustl.edu 37 11 117153161 117153161 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001077239.1 +1 validated p.R585H 1.000 263 0% 151 23.8% 21 33.3% probably_damaging(1) tolerated(0.28) deleterious(0.531) NULL CEP164 22897 genome.wustl.edu 37 11 117279734 117279734 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014956.4 +1 validated p.R1246 0.001 109 0% 41 36.6% 4 75% - - - NULL TMPRSS13 84000 genome.wustl.edu 37 11 117774354 117774354 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000445164 -1 known p.Q564* 0.000 105 0% 45 44.4% 0 - - - - NULL MPZL3 196264 genome.wustl.edu 37 11 118104192 118104192 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198275.1 -1 provisional p.R222C 0.625 246 0% 135 23% 4 25% benign(0.165) deleterious(0) neutral(0.460) NULL CD3D 915 genome.wustl.edu 37 11 118209900 118209900 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000732.4 -1 reviewed p.G165* 0.991 280 0.4% 158 11.4% 13 0% - - - HMMPfam_ITAM,HMMSmart_SM00077 UBE4A 9354 genome.wustl.edu 37 11 118250357 118250357 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004788.2 +1 reviewed p.S597T 1.000 290 0% 206 29.6% 34 50% possibly_damaging(0.902) tolerated(0.31) neutral(0.384) HMMPfam_Ufd2P_core MLL 4297 genome.wustl.edu 37 11 118342612 118342612 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005933.2 +1 validated p.K246N 1.000 478 0% 328 28.7% 3 100% probably_damaging(0.98) tolerated(0.2) deleterious(0.473) NULL MLL 4297 genome.wustl.edu 37 11 118347553 118347553 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005933.2 +1 validated p.R1064* 0.995 236 0% 181 24.3% 4 25% - - - NULL MLL 4297 genome.wustl.edu 37 11 118348864 118348864 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005933.2 +1 validated p.C1173R 1.000 474 0% 247 29.1% 5 0% possibly_damaging(0.922) - - HMMPfam_zf-CXXC TMEM25 84866 genome.wustl.edu 37 11 118404152 118404152 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032780.3 +1 validated p.V231M 1.000 84 0% 35 14.3% 8 62.5% possibly_damaging(0.774) deleterious(0.01) deleterious(0.694) NULL ARCN1 372 genome.wustl.edu 37 11 118452208 118452208 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001655.4 +1 reviewed p.R84M 0.685 192 0% 116 31.9% 106 39.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SNARE-like PHLDB1 23187 genome.wustl.edu 37 11 118502021 118502021 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001144758.1 +1 validated p.A642D 0.964 164 0% 107 33.6% 10 40% probably_damaging(0.964) deleterious(0.04) deleterious(0.755) NULL DDX6 1656 genome.wustl.edu 37 11 118629570 118629570 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004397.4 -1 reviewed p.E302D 1.000 209 0% 140 25.7% 55 47.2% benign(0) tolerated(1) - HMMSmart_DEXDc,superfamily_SSF52540 DDX6 1656 genome.wustl.edu 37 11 118635987 118635987 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004397.4 -1 reviewed p.G192 1.000 974 0% 589 26.3% 31 38.7% - - - HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540 BCL9L 283149 genome.wustl.edu 37 11 118771496 118771496 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182557.2 -1 validated p.R986C 1.000 61 0% 32 37.5% 34 35.2% probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL BCL9L 283149 genome.wustl.edu 37 11 118772950 118772950 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182557.2 -1 validated p.M501T 1.000 59 0% 22 22.7% 3 66.6% possibly_damaging(0.794) deleterious(0.01) deleterious(0.704) NULL SLC37A4 2542 genome.wustl.edu 37 11 118895724 118895724 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000330775 -1 known p.A417S 1.000 69 0% 49 22.4% 38 28.9% unknown(0) - - superfamily_MFS general substrate transporter SLC37A4 2542 genome.wustl.edu 37 11 118899937 118899937 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000330775 -1 known p.D48G 1.000 65 0% 31 45.2% 23 26% - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter HYOU1 10525 genome.wustl.edu 37 11 118925353 118925353 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130991.1 -1 reviewed p.P177 0.994 63 0% 30 20% 113 13.2% - - - HMMPfam_HSP70,superfamily_Actin-like ATPase domain VPS11 55823 genome.wustl.edu 37 11 118949413 118949413 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000300793 +1 known p.L687 1.000 61 1.6% 26 42.3% 81 33.3% - - - NULL VPS11 55823 genome.wustl.edu 37 11 118949623 118949623 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000300793 +1 known p.A727T 1.000 67 0% 43 37.2% 49 48.9% - - - NULL VPS11 55823 genome.wustl.edu 37 11 118951995 118951995 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000300793 +1 known p.R877* 1.000 164 0% 88 12.5% 64 18.7% - - - NULL C2CD2L 9854 genome.wustl.edu 37 11 118986849 118986849 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014807.3 +1 validated p.N669 0.994 65 0% 36 13.9% 25 36% - - - NULL PDZD3 79849 genome.wustl.edu 37 11 119059353 119059353 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024791.3 +1 validated p.R341H 1.000 78 0% 39 17.9% 0 - probably_damaging(0.999) tolerated(0.16) deleterious(0.550) superfamily_PDZ MCAM 4162 genome.wustl.edu 37 11 119182085 119182085 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006500.2 -1 validated p.N485S 0.040 77 0% 32 28.1% 19 0% benign(0.001) tolerated(0.37) neutral(0.019) HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin PVRL1 5818 genome.wustl.edu 37 11 119549197 119549197 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002855.4 -1 reviewed p.G120C 1.000 177 0% 89 12.4% 18 27.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin PVRL1 5818 genome.wustl.edu 37 11 119549269 119549269 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002855.4 -1 reviewed p.R96C 1.000 95 0% 46 28.3% 14 35.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin ARHGEF12 23365 genome.wustl.edu 37 11 120347455 120347455 + Silent SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015313.1 +1 reviewed p.T1121 0.350 192 0% 125 20.8% 27 18.5% - - - HMMSmart_SM00233,superfamily_PH domain-like ARHGEF12 23365 genome.wustl.edu 37 11 120347456 120347456 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015313.1 +1 reviewed p.V1122I 0.995 187 0% 123 20.3% 27 18.5% benign(0.019) tolerated(0.36) neutral(0.021) HMMSmart_SM00233,superfamily_PH domain-like TBCEL 219899 genome.wustl.edu 37 11 120929158 120929158 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130047.1 +1 validated p.R273* 1.000 425 0% 246 22.8% 11 18.1% - - - superfamily_SSF52047 SC5DL 6309 genome.wustl.edu 37 11 121174242 121174242 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001024956.2 +1 reviewed p.S53I 1.000 230 0% 108 25.9% 36 58.3% possibly_damaging(0.948) deleterious(0.02) deleterious(0.774) NULL SORL1 6653 genome.wustl.edu 37 11 121477970 121477970 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003105.4 +1 reviewed p.L1713I 0.990 122 0.8% 63 31.7% 9 55.5% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III BLID 414899 genome.wustl.edu 37 11 121986489 121986489 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001786.2 -1 reviewed p.E48K 0.000 347 0% 183 13.7% 0 - unknown(0) - - NULL UBASH3B 84959 genome.wustl.edu 37 11 122650305 122650305 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032873.4 +1 validated p.T168M 1.000 192 0% 100 26% 4 0% possibly_damaging(0.762) tolerated(0.17) neutral(0.341) NULL C11orf63 79864 genome.wustl.edu 37 11 122756567 122756567 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024806.2 +1 validated p.R4C 0.000 180 0% 112 25% 4 25% benign(0.001) tolerated(0.16) neutral(0.059) NULL C11orf63 79864 genome.wustl.edu 37 11 122817429 122817429 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024806.2 +1 validated p.R620C 0.646 172 0% 137 14.6% 10 10% probably_damaging(1) deleterious(0) deleterious(0.945) NULL HSPA8 3312 genome.wustl.edu 37 11 122929826 122929826 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006597.3 -1 reviewed p.T422A 1.000 116 0% 65 32.3% 2343 39.9% benign(0.001) deleterious(0.01) neutral(0.406) HMMPfam_HSP70,superfamily_Heat shock protein 70kD (HSP70) peptide-binding domain CLMP 79827 genome.wustl.edu 37 11 122954464 122954464 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024769.2 -1 validated p.E160D 0.964 194 0% 119 11.8% 3 0% benign(0) tolerated(0.62) neutral(0.004) HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 GRAMD1B 57476 genome.wustl.edu 37 11 123484347 123484347 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020716.1 +1 validated p.H593 0.998 109 0% 55 21.8% 1 0% - - - NULL SCN3B 55800 genome.wustl.edu 37 11 123524469 123524469 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001040151.1 -1 reviewed p.V14A 0.995 590 0% 347 26.2% 0 - benign(0.001) tolerated(0.13) neutral(0.253) NULL ZNF202 7753 genome.wustl.edu 37 11 123598932 123598932 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003455.2 -1 validated p.S247 0.999 388 0% 231 32.9% 7 28.5% - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF202 7753 genome.wustl.edu 37 11 123600369 123600369 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003455.2 -1 validated p.E189D 0.998 88 0% 45 20% 3 33.3% benign(0.366) tolerated(0.65) neutral(0.120) NULL OR6M1 390261 genome.wustl.edu 37 11 123676574 123676574 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005325.1 -1 provisional p.T162A 0.000 233 0% 190 25.3% 0 - benign(0.002) tolerated(0.34) neutral(0.023) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR8D4 338662 genome.wustl.edu 37 11 123777848 123777848 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005197.1 +1 provisional p.A237V 1.000 327 0% 284 23.9% 0 - probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_7tm_1,superfamily_SSF81321 OR4D5 219875 genome.wustl.edu 37 11 123810893 123810893 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001965.1 +1 provisional p.T190 0.785 396 0% 227 26.9% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4D5 219875 genome.wustl.edu 37 11 123811088 123811088 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001965.1 +1 provisional p.I255 0.596 470 0% 250 21.6% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR4D5 219875 genome.wustl.edu 37 11 123811214 123811214 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001965.1 +1 provisional p.A297 0.976 348 0% 176 30.1% 0 - - - - superfamily_Family A G protein-coupled receptor-like OR6T1 219874 genome.wustl.edu 37 11 123814056 123814056 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005187.1 -1 provisional p.A164T 0.001 121 0% 72 31.9% 0 - benign(0.017) tolerated(0.23) neutral(0.042) HMMPfam_7tm_1,superfamily_SSF81321 ENSG00000226461 0 genome.wustl.edu 37 11 123880583 123880583 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000430459 +1 known p.V72L 0.475 157 0% 98 20.4% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR10G4 390264 genome.wustl.edu 37 11 123886823 123886823 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004462.1 +1 provisional p.P181L 0.009 644 0% 413 26.2% 0 - probably_damaging(0.987) tolerated(0.15) deleterious(0.677) HMMPfam_7tm_1,superfamily_SSF81321 OR10G8 219869 genome.wustl.edu 37 11 123900551 123900551 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004464.1 +1 provisional p.V74 0.955 637 0% 408 27.2% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like VWA5A 4013 genome.wustl.edu 37 11 124005737 124005737 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130142.1 +1 validated p.S452F 1.000 122 0% 77 37.7% 9 77.7% benign(0.004) tolerated(0.12) neutral(0.261) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like VWA5A 4013 genome.wustl.edu 37 11 124012396 124012396 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130142.1 +1 validated p.M657I 0.000 439 0% 272 27.2% 4 100% benign(0) tolerated(0.44) neutral(0.013) NULL OR8D1 283159 genome.wustl.edu 37 11 124179992 124179992 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001002917.1 -1 provisional p.S224I 0.000 174 0% 183 27.3% 0 - probably_damaging(0.976) deleterious(0) deleterious(0.863) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR8D1 283159 genome.wustl.edu 37 11 124180345 124180345 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001002917.1 -1 provisional p.V106 0.023 275 0% 188 19.7% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PANX3 116337 genome.wustl.edu 37 11 124489317 124489317 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052959.2 +1 reviewed p.A222V 0.569 157 0% 96 33.3% 0 - possibly_damaging(0.897) tolerated(1) neutral(0.354) NULL TBRG1 84897 genome.wustl.edu 37 11 124495793 124495793 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032811.2 +1 validated p.L150M 1.000 37 0% 25 24% 19 36.8% benign(0) tolerated(0.17) neutral(0.059) NULL SIAE 54414 genome.wustl.edu 37 11 124524594 124524594 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_170601.3 -1 validated p.E167D 1.000 1204 0.1% 653 12.7% 37 13.5% benign(0) tolerated(0.63) neutral(0.004) NULL VSIG2 23584 genome.wustl.edu 37 11 124621404 124621404 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014312.3 -1 provisional p.C45Y 1.000 99 0% 52 26.9% 3 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin ROBO3 64221 genome.wustl.edu 37 11 124739922 124739922 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022370.3 +1 reviewed p.A242T 1.000 101 0% 49 28.6% 0 - possibly_damaging(0.68) deleterious(0.01) deleterious(0.648) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin ROBO3 64221 genome.wustl.edu 37 11 124739941 124739941 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022370.3 +1 reviewed p.A248V 0.989 74 0% 48 31.2% 0 - benign(0.064) tolerated(0.21) neutral(0.048) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin ROBO3 64221 genome.wustl.edu 37 11 124740079 124740079 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022370.3 +1 reviewed p.R262H 0.894 210 0% 110 33.6% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_I-set,superfamily_Immunoglobulin HEPACAM 220296 genome.wustl.edu 37 11 124793862 124793862 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152722.4 -1 validated p.L158 1.000 55 0% 33 27.3% 0 - - - - HMMSmart_SM00409,superfamily_Immunoglobulin PKNOX2 63876 genome.wustl.edu 37 11 125301195 125301195 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022062.2 +1 validated p.E442D 1.000 64 0% 41 34.1% 0 - benign(0.037) tolerated(0.99) neutral(0.002) NULL FEZ1 9638 genome.wustl.edu 37 11 125359382 125359382 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005103.3 -1 reviewed p.E98K 1.000 196 0% 114 30.7% 0 - possibly_damaging(0.773) deleterious(0.02) deleterious(0.670) HMMPfam_FEZ PUS3 83480 genome.wustl.edu 37 11 125765461 125765461 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031307.3 -1 validated p.R201H 1.000 113 0% 69 24.6% 20 45% benign(0.054) tolerated(0.06) neutral(0.326) superfamily_PsdUridine_synth_cat_dom PUS3 83480 genome.wustl.edu 37 11 125765665 125765665 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031307.3 -1 validated p.R133H 1.000 283 0% 171 13.5% 23 17.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PseudoU_synth_1,superfamily_PsdUridine_synth_cat_dom RPUSD4 84881 genome.wustl.edu 37 11 126075478 126075478 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032795.2 -1 validated p.D227 0.493 115 0% 68 36.8% 30 50% - - - HMMPfam_PseudoU_synth_2,superfamily_PsdUridine_synth_cat_dom DCPS 28960 genome.wustl.edu 37 11 126176565 126176565 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014026.3 +1 validated p.S101N 0.959 65 0% 43 39.5% 37 43.2% benign(0) tolerated(0.57) neutral(0.006) HMMPfam_DcpS,superfamily_Scavenger_mRNA_decap_enz_N DCPS 28960 genome.wustl.edu 37 11 126215338 126215338 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014026.3 +1 validated p.A282T 0.983 80 0% 46 39.1% 65 44.6% possibly_damaging(0.8) tolerated(0.38) neutral(0.319) HMMPfam_DcpS,superfamily_His_triad-like_motif,PatternScan_HIT_1 ST3GAL4 6484 genome.wustl.edu 37 11 126276443 126276443 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000239597 +1 known p.Y12C 0.959 126 0.8% 83 25.3% 15 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ST3GAL4 6484 genome.wustl.edu 37 11 126278058 126278058 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006278.1 +1 provisional p.D132Y 0.292 83 1.2% 28 25% 12 50% benign(0.091) deleterious(0.03) neutral(0.371) HMMPfam_Glyco_transf_29 ETS1 2113 genome.wustl.edu 37 11 128354757 128354757 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001143820.1 -1 validated p.V275I 0.971 347 0% 231 32% 25 12% probably_damaging(0.962) tolerated(0.08) deleterious(0.705) NULL KCNJ1 3758 genome.wustl.edu 37 11 128709384 128709384 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000220.2 -1 reviewed p.V271A 0.998 176 0% 102 11.8% 3 33.3% benign(0.006) tolerated(0.46) neutral(0.012) HMMPfam_IRK,superfamily_E set domains C11orf45 219833 genome.wustl.edu 37 11 128772609 128772609 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145013.1 -1 provisional e3-1 0.000 104 0% 54 11.1% 0 - - - - - ARHGAP32 9743 genome.wustl.edu 37 11 128842538 128842538 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142685.1 -1 validated p.S1274N 0.002 239 0% 122 38.5% 8 50% benign(0.039) deleterious(0) neutral(0.447) NULL ARHGAP32 9743 genome.wustl.edu 37 11 128843132 128843132 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142685.1 -1 validated p.A1076V 0.029 459 0% 294 29.9% 13 53.8% possibly_damaging(0.907) deleterious(0) deleterious(0.805) NULL ARHGAP32 9743 genome.wustl.edu 37 11 128844060 128844060 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142685.1 -1 validated p.S997N 0.990 511 0% 265 29.8% 3 0% probably_damaging(0.957) tolerated(0.07) deleterious(0.720) NULL BARX2 8538 genome.wustl.edu 37 11 129245986 129245986 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003658.4 +1 reviewed p.R19M 1.000 82 0% 39 33.3% 5 20% probably_damaging(0.96) deleterious(0) deleterious(0.848) NULL NFRKB 4798 genome.wustl.edu 37 11 129754708 129754708 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006165.3 -1 validated p.R250H 0.995 82 0% 40 30% 12 33.3% unknown(0) tolerated(0.15) - NULL PRDM10 56980 genome.wustl.edu 37 11 129814885 129814885 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020228.2 -1 reviewed p.A181 0.096 117 0% 86 33.7% 2 50% - - - NULL APLP2 334 genome.wustl.edu 37 11 130000003 130000003 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001642.2 +1 validated p.R509H 1.000 345 0% 179 30.7% 514 47.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_CAPPD an extracellular domain of amyloid beta A4 protein APLP2 334 genome.wustl.edu 37 11 130003542 130003542 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001642.2 +1 validated p.V535M 1.000 173 0.6% 73 32.9% 524 42.1% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_CAPPD an extracellular domain of amyloid beta A4 protein ZBTB44 29068 genome.wustl.edu 37 11 130131140 130131140 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014155.4 -1 validated p.S210Y 1.000 181 0% 117 30.8% 19 57.8% benign(0.313) deleterious(0) deleterious(0.542) NULL SNX19 399979 genome.wustl.edu 37 11 130785481 130785481 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014758.2 -1 validated p.Y118* 0.322 89 0% 42 35.7% 9 33.3% - - - HMMPfam_PXA,HMMSmart_SM00313 NTM 50863 genome.wustl.edu 37 11 132204973 132204973 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001144058.1 +1 reviewed p.T334M 0.313 130 0% 65 32.3% 2 0% possibly_damaging(0.937) deleterious(0.01) deleterious(0.788) NULL IGSF9B 22997 genome.wustl.edu 37 11 133790951 133790951 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014987.1 -1 validated p.R890H 1.000 77 0% 55 14.5% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL IGSF9B 22997 genome.wustl.edu 37 11 133791002 133791002 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014987.1 -1 validated p.R873H 1.000 68 0% 39 20.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL IGSF9B 22997 genome.wustl.edu 37 11 133799613 133799613 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014987.1 -1 validated p.S528 1.000 62 0% 13 30.8% 0 - - - - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like NCAPD3 23310 genome.wustl.edu 37 11 134055323 134055323 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015261.2 -1 validated p.S715L 0.993 189 0% 111 20.7% 7 0% benign(0.015) tolerated(0.2) neutral(0.050) superfamily_ARM-type_fold NCAPD3 23310 genome.wustl.edu 37 11 134073086 134073086 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015261.2 -1 validated p.T492 0.000 171 0% 93 25.8% 6 66.6% - - - superfamily_ARM-type_fold NCAPD3 23310 genome.wustl.edu 37 11 134073952 134073952 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015261.2 -1 validated p.R402* 0.973 298 0% 202 29.2% 12 0% - - - superfamily_ARM-type_fold ACAD8 27034 genome.wustl.edu 37 11 134128471 134128471 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014384.2 +1 reviewed p.P148L 0.136 45 0% 22 27.3% 17 5.8% benign(0.001) tolerated(0.22) neutral(0.042) HMMPfam_Acyl-CoA_dh_N,superfamily_AcylCoA_dehyd_NM GLB1L3 112937 genome.wustl.edu 37 11 134182312 134182312 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080407.2 +1 validated p.G453R 0.902 78 1.3% 34 35.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL GLB1L2 89944 genome.wustl.edu 37 11 134239748 134239748 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138342.3 +1 validated p.M359I 0.074 111 0% 69 36.2% 26 34.6% benign(0) tolerated(0.39) neutral(0.016) HMMPfam_Glyco_hydro_35,superfamily_Glyco_hydro_cat GLB1L2 89944 genome.wustl.edu 37 11 134240245 134240245 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138342.3 +1 validated p.T389 0.000 137 0% 70 35.7% 18 33.3% - - - NULL GLB1L2 89944 genome.wustl.edu 37 11 134240941 134240941 + Missense_Mutation SNP C C G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138342.3 +1 validated p.P419A 1.000 219 0.5% 111 29.7% 23 39.1% possibly_damaging(0.947) deleterious(0.03) deleterious(0.755) NULL KDM5A 5927 genome.wustl.edu 37 12 404926 404926 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001042603.1 -1 reviewed p.S1423N 1.000 695 0% 497 16.9% 10 30% benign(0.31) tolerated(0.3) neutral(0.125) NULL KDM5A 5927 genome.wustl.edu 37 12 420176 420176 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001042603.1 -1 reviewed p.R1031C 1.000 200 0.5% 108 14.8% 8 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PLU-1 KDM5A 5927 genome.wustl.edu 37 12 431630 431630 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001042603.1 -1 reviewed p.T793 0.145 269 0% 159 28.9% 5 20% - - - HMMPfam_PLU-1 KDM5A 5927 genome.wustl.edu 37 12 461468 461468 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001042603.1 -1 reviewed p.A351V 1.000 254 0% 188 29.3% 4 25% possibly_damaging(0.747) deleterious(0.05) deleterious(0.619) NULL KDM5A 5927 genome.wustl.edu 37 12 464398 464398 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001042603.1 -1 reviewed p.R266* 1.000 326 0% 258 29.5% 2 0% - - - NULL WNK1 65125 genome.wustl.edu 37 12 939252 939252 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018979.3 +1 reviewed p.L413F 1.000 249 0% 132 36.4% 12 16.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Kinase_like,HMMPfam_Pkinase WNK1 65125 genome.wustl.edu 37 12 992690 992690 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018979.3 +1 reviewed p.E1207* 0.997 340 0.3% 183 33.9% 16 12.5% - - - NULL WNK1 65125 genome.wustl.edu 37 12 994546 994546 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018979.3 +1 reviewed p.A1526T 0.992 789 0.1% 480 22.5% 30 73.3% unknown(0) deleterious(0.02) - NULL WNK1 65125 genome.wustl.edu 37 12 1005255 1005255 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018979.3 +1 reviewed p.G1868S 1.000 270 0% 180 21.7% 18 16.6% unknown(0) tolerated(0.18) - NULL ERC1 23085 genome.wustl.edu 37 12 1599363 1599363 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178040.2 +1 reviewed p.E1106 1.000 230 0% 110 27.3% 8 25% - - - HMMPfam_RBD-FIP ADIPOR2 79602 genome.wustl.edu 37 12 1890196 1890196 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024551.2 +1 validated p.S264 1.000 221 0.5% 161 22.4% 22 36.3% - - - HMMPfam_HlyIII CACNA2D4 93589 genome.wustl.edu 37 12 1910209 1910209 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_172364.4 -1 reviewed p.S956 0.999 41 0% 19 31.6% 0 - - - - NULL DCP1B 196513 genome.wustl.edu 37 12 2058396 2058396 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152640.3 -1 validated p.S543 0.001 43 0% 19 31.6% 33 54.5% - - - NULL FKBP4 2288 genome.wustl.edu 37 12 2907922 2907922 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002014.3 +1 reviewed p.G148 0.174 166 0% 102 21.6% 238 37.8% - - - superfamily_SSF54534 ITFG2 55846 genome.wustl.edu 37 12 2930953 2930953 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018463.3 +1 validated p.V315I 1.000 547 0% 271 23.2% 16 12.5% benign(0.017) tolerated(0.26) neutral(0.035) NULL TEAD4 7004 genome.wustl.edu 37 12 3149410 3149410 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003213.2 +1 reviewed p.N392K 1.000 115 0% 54 29.6% 13 23% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_TEA PARP11 57097 genome.wustl.edu 37 12 3938119 3938119 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020367.4 -1 validated p.I75M 1.000 175 0% 108 33.3% 0 - benign(0.01) tolerated(0.13) neutral(0.253) HMMPfam_WWE ENSG00000118976 0 genome.wustl.edu 37 12 3949297 3949297 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000237841 +1 known p.S277Y 0.998 330 0.3% 155 27.7% 1 0% - - - NULL CCND2 894 genome.wustl.edu 37 12 4385219 4385219 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001759.3 +1 validated p.N82H 1.000 85 0% 43 30.2% 7 0% probably_damaging(1) tolerated(0.05) deleterious(0.845) HMMSmart_SM00385,HMMPfam_Cyclin_N,PatternScan_CYCLINS,superfamily_Cyclin-like AKAP3 10566 genome.wustl.edu 37 12 4736342 4736342 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006422.2 -1 reviewed p.A576T 0.000 260 0.4% 150 25.3% 7 14.2% benign(0.026) tolerated(0.44) neutral(0.014) HMMPfam_AKAP_110,HMMSmart_SM00807 NDUFA9 4704 genome.wustl.edu 37 12 4768306 4768306 + Missense_Mutation SNP C C T rs190837666 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005002.4 +1 reviewed p.A172V 1.000 270 0% 201 22.4% 100 44% possibly_damaging(0.794) tolerated(0.55) neutral(0.305) superfamily_NAD(P)-bd GALNT8 26290 genome.wustl.edu 37 12 4829935 4829935 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017417.1 +1 reviewed p.G31V 0.000 224 0% 121 21.5% 0 - benign(0.148) tolerated(0.21) neutral(0.057) NULL KCNA6 3742 genome.wustl.edu 37 12 4919424 4919424 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002235.3 +1 reviewed p.R73* 0.985 103 0% 59 10.2% 0 - - - - HMMSmart_BTB,HMMPfam_K_tetra,superfamily_BTB/POZ_fold KCNA5 3741 genome.wustl.edu 37 12 5154060 5154060 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002234.2 +1 reviewed p.A249 0.081 144 0% 82 13.4% 0 - - - - superfamily_Voltage-gated potassium channels ANO2 57101 genome.wustl.edu 37 12 5744330 5744330 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020373.2 -1 validated p.L602I 1.000 86 0% 52 17.3% 0 - possibly_damaging(0.743) tolerated(0.26) neutral(0.306) NULL VWF 7450 genome.wustl.edu 37 12 6122725 6122725 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000552.3 -1 reviewed p.V1848M 0.029 202 0% 82 32.9% 34 0% benign(0.008) tolerated(0.11) neutral(0.272) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like VWF 7450 genome.wustl.edu 37 12 6128762 6128762 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000552.3 -1 reviewed p.R1274 0.988 229 0% 100 32% 15 0% - - - superfamily_vWA-like LTBR 4055 genome.wustl.edu 37 12 6497628 6497630 + In_Frame_Del DEL CTC CTC - novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002342.1 +1 reviewed p.S245in_frame_del 0.004:0.796:0.941 - - - - - - - - - NULL VAMP1 6843 genome.wustl.edu 37 12 6575434 6575434 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014231.3 -1 reviewed p.T29I 0.993 257 0% 162 25.3% 4 50% benign(0.382) deleterious(0.05) neutral(0.467) NULL CHD4 1108 genome.wustl.edu 37 12 6696626 6696626 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001273.2 -1 reviewed p.T1268I 1.000 599 0% 357 26.3% 69 81.1% benign(0.129) tolerated(0.12) neutral(0.272) NULL ING4 51147 genome.wustl.edu 37 12 6762186 6762186 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001127582.1 -1 reviewed p.D103Y 1.000 199 0.5% 134 30.6% 21 33.3% benign(0.294) deleterious(0) deleterious(0.535) NULL C12orf53 196500 genome.wustl.edu 37 12 6806531 6806531 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153685.2 -1 predicted p.R149* 0.767 129 0% 55 18.2% 1 0% - - - NULL LAG3 3902 genome.wustl.edu 37 12 6884528 6884528 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002286.5 +1 reviewed p.R291W 0.001 250 0% 94 28.7% 31 6.4% benign(0.087) deleterious(0.02) neutral(0.390) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 USP5 8078 genome.wustl.edu 37 12 6965952 6965952 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098536.1 +1 validated p.R222 0.998 140 0% 67 25.4% 78 46.1% - - - HMMPfam_zf-UBP,HMMSmart_SM00290 USP5 8078 genome.wustl.edu 37 12 6971694 6971694 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098536.1 +1 validated p.F578 1.000 210 0% 106 24.5% 113 43.3% - - - HMMPfam_UCH,superfamily_Cysteine proteinases ATN1 1822 genome.wustl.edu 37 12 7043711 7043711 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001007026.1 +1 reviewed p.E83D 1.000 80 0% 37 16.2% 58 60.3% benign(0.144) tolerated(0.78) neutral(0.014) HMMPfam_Atrophin-1 ATN1 1822 genome.wustl.edu 37 12 7045481 7045481 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001007026.1 +1 reviewed p.T351P 0.001 639 0% 372 30.9% 161 45.3% probably_damaging(0.976) tolerated(0.23) neutral(0.459) HMMPfam_Atrophin-1 PHB2 11331 genome.wustl.edu 37 12 7078670 7078670 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001144831.1 -1 validated p.G95C 1.000 167 0% 84 29.8% 294 43.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Band_7,HMMSmart_SM00244 C1R 715 genome.wustl.edu 37 12 7241941 7241941 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000290575 -1 known p.P253H 1.000 86 0% 42 33.3% 50 6% probably_damaging(0.958) deleterious(0.04) deleterious(0.750) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain PEX5 5830 genome.wustl.edu 37 12 7360322 7360322 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001131023.1 +1 reviewed p.R360H 0.999 141 0% 80 31.2% 24 25% benign(0.003) tolerated(0.13) neutral(0.253) superfamily_SSF48452 CD163L1 283316 genome.wustl.edu 37 12 7528077 7528077 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_174941.4 -1 reviewed p.A934V 0.976 233 0% 122 26.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like CD163L1 283316 genome.wustl.edu 37 12 7548894 7548894 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_174941.4 -1 reviewed p.A616V 0.997 373 0% 242 28.5% 0 - benign(0.245) deleterious(0) deleterious(0.470) HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like CD163 9332 genome.wustl.edu 37 12 7637728 7637728 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004244.4 -1 validated p.A915T 0.000 229 0.4% 160 32.5% 25 0% possibly_damaging(0.712) deleterious(0.01) deleterious(0.663) HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like DPPA3 359787 genome.wustl.edu 37 12 7864170 7864170 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_199286.2 +1 reviewed p.D2Y 0.147 103 0% 52 26.9% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL FOXJ2 55810 genome.wustl.edu 37 12 8196641 8196641 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018416.2 +1 validated p.P191L 0.895 345 0% 169 32.5% 2 50% benign(0.07) tolerated(0.29) neutral(0.034) NULL FOXJ2 55810 genome.wustl.edu 37 12 8197509 8197509 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018416.2 +1 validated p.L258I 1.000 833 0% 514 22.2% 4 0% probably_damaging(0.998) tolerated(0.07) deleterious(0.793) NULL C3AR1 719 genome.wustl.edu 37 12 8212518 8212518 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004054.2 -1 validated p.W88* 1.000 313 0% 182 29.1% 5 0% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CLEC4A 50856 genome.wustl.edu 37 12 8290827 8290827 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016184.3 +1 reviewed p.V220I 0.000 395 0% 260 25.4% 1 0% benign(0.03) tolerated(0.71) neutral(0.003) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like,PatternScan_C_TYPE_LECTIN_1 FAM90A1 55138 genome.wustl.edu 37 12 8374494 8374494 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018088.3 -1 validated p.R440H 0.000 44 0% 24 25% 1 100% probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL FAM90A1 55138 genome.wustl.edu 37 12 8374610 8374610 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018088.3 -1 validated p.N401 0.000 40 0% 11 54.5% 0 - - - - NULL CLEC4D 338339 genome.wustl.edu 37 12 8673790 8673790 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080387.4 +1 reviewed p.K191E 0.404 291 0% 172 29.1% 1 0% benign(0.194) tolerated(0.34) neutral(0.041) HMMPfam_Lectin_C,HMMSmart_CLECT,superfamily_C-type_lectin_fold AICDA 57379 genome.wustl.edu 37 12 8757905 8757905 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020661.2 -1 reviewed p.A111 0.987 74 0% 48 35.4% 0 - - - - HMMPfam_APOBEC_N,superfamily_Cytidine deaminase-like PHC1 1911 genome.wustl.edu 37 12 9085946 9085946 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000433847 +1 known p.G568S 1.000 40 0% 34 14.7% 4 0% - - - NULL M6PR 4074 genome.wustl.edu 37 12 9096056 9096056 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002355.2 -1 reviewed p.L177M 1.000 236 0% 124 22.6% 65 44.6% possibly_damaging(0.499) tolerated(0.28) neutral(0.198) HMMPfam_Man-6-P_recep,superfamily_Mannose 6-phosphate receptor domain A2M 2 genome.wustl.edu 37 12 9259149 9259149 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000014.4 -1 reviewed p.L311P 0.751 55 0% 34 38.2% 46 0% benign(0.014) deleterious(0.04) neutral(0.349) NULL PZP 5858 genome.wustl.edu 37 12 9317761 9317761 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002864.2 -1 validated p.L821I 0.696 406 0% 243 13.2% 0 - probably_damaging(0.993) tolerated(0.27) deleterious(0.484) HMMPfam_A2M DDX12P 440081 genome.wustl.edu 37 12 9573167 9573167 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000432996 -1 known p.V716I 0.995 45 0% 15 26.7% 12 25% - - - HMMSmart_SM00491 KLRB1 3820 genome.wustl.edu 37 12 9751121 9751121 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002258.2 -1 reviewed p.L130 0.972 658 0% 476 27.7% 3 0% - - - HMMPfam_Lectin_C,HMMSmart_CLECT,superfamily_C-type_lectin_fold CLEC2D 29121 genome.wustl.edu 37 12 9833566 9833566 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004419.2 +1 reviewed p.R37C 0.000 185 0% 132 21.2% 1 0% benign(0.237) deleterious(0.05) neutral(0.369) NULL KLRF1 51348 genome.wustl.edu 37 12 9997050 9997050 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016523.1 +1 provisional p.S207R 0.992 330 0% 214 31.3% 2 50% probably_damaging(0.979) deleterious(0.01) deleterious(0.828) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like CLEC12B 387837 genome.wustl.edu 37 12 10165442 10165442 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001129998.1 +1 validated p.C50 0.491 298 0.3% 177 33.3% 0 - - - - NULL CLEC12B 387837 genome.wustl.edu 37 12 10168228 10168228 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001129998.1 +1 validated p.Q194H 0.001 874 0% 544 30.1% 0 - possibly_damaging(0.608) deleterious(0.01) deleterious(0.616) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like ENSG00000180574 0 genome.wustl.edu 37 12 10658575 10658575 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000322446 +1 known p.V25A 1.000 111 0% 65 27.7% 23 0% benign(0.003) tolerated(0.06) neutral(0.323) NULL TAS2R10 50839 genome.wustl.edu 37 12 10978609 10978609 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_023921.1 -1 reviewed p.F87C 0.000 261 0% 223 29.1% 0 - possibly_damaging(0.51) deleterious(0) deleterious(0.616) HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like PRR4 11272 genome.wustl.edu 37 12 10999863 10999863 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000431566 -1 known p.V52A 0.000 374 0% 261 29.1% 28 14.2% benign(0.094) - - NULL TAS2R50 259296 genome.wustl.edu 37 12 11139301 11139301 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_176890.2 -1 validated p.V53 0.221 678 0% 492 21.7% 0 - - - - HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like TAS2R19 259294 genome.wustl.edu 37 12 11174832 11174832 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_176888.1 -1 provisional p.F113 0.290 533 0% 370 10.8% 0 - - - - HMMPfam_TAS2R,superfamily_SSF81321 TAS2R19 259294 genome.wustl.edu 37 12 11175089 11175089 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_176888.1 -1 provisional p.A28T 0.023 301 0% 210 37.1% 0 - possibly_damaging(0.523) deleterious(0.04) deleterious(0.525) HMMPfam_TAS2R,superfamily_SSF81321 PRB3 5544 genome.wustl.edu 37 12 11420522 11420522 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000279573 -1 known p.R221C 0.001 984 0.1% 662 11.5% 0 - unknown(0) tolerated(0.08) - NULL PRB3 5544 genome.wustl.edu 37 12 11420585 11420585 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000279573 -1 known p.R200C 0.000 1410 0% 921 9.6% 1 0% unknown(0) deleterious(0.05) - NULL PRB4 5545 genome.wustl.edu 37 12 11461754 11461754 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002723.3 -1 reviewed p.G55* 0.002 1388 0.1% 765 22.1% 0 - - - - NULL BCL2L14 79370 genome.wustl.edu 37 12 12247769 12247769 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138722.1 +1 reviewed p.A284S 0.017 348 0% 206 26.7% 1 0% possibly_damaging(0.438) tolerated(0.16) neutral(0.202) superfamily_Bcl-2 inhibitors of programmed cell death LRP6 4040 genome.wustl.edu 37 12 12336914 12336914 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002336.2 -1 reviewed p.G326S 1.000 437 0% 279 25.1% 4 25% benign(0.265) tolerated(0.22) neutral(0.070) superfamily_EGF/Laminin DUSP16 80824 genome.wustl.edu 37 12 12629969 12629969 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030640.2 -1 reviewed p.R599M 1.000 208 0% 108 26.9% 32 25% probably_damaging(0.991) deleterious(0.03) deleterious(0.808) NULL GPR19 2842 genome.wustl.edu 37 12 12815176 12815176 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006143.2 -1 validated p.S69 1.000 364 0% 150 28% 0 - - - - superfamily_Family A G protein-coupled receptor-like CDKN1B 1027 genome.wustl.edu 37 12 12871855 12871855 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004064.3 +1 reviewed p.P191H 0.954 136 0% 72 36.1% 40 32.5% benign(0.065) deleterious(0.04) neutral(0.353) NULL GPRC5A 9052 genome.wustl.edu 37 12 13061667 13061667 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003979.3 +1 reviewed p.V162I 0.005 1134 0% 588 27.2% 13 15.3% benign(0.112) tolerated(0.45) neutral(0.021) HMMPfam_7tm_3 GRIN2B 2904 genome.wustl.edu 37 12 13716607 13716607 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000834.3 -1 reviewed p.V1189M 0.988 114 0% 34 29.4% 0 - possibly_damaging(0.819) tolerated(0.18) neutral(0.365) HMMPfam_NMDAR2_C GRIN2B 2904 genome.wustl.edu 37 12 13717235 13717235 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000834.3 -1 reviewed p.N979 0.977 137 0% 53 32.1% 0 - - - - HMMPfam_NMDAR2_C GRIN2B 2904 genome.wustl.edu 37 12 13717507 13717507 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000834.3 -1 reviewed p.A889T 0.989 211 0% 106 31.1% 0 - possibly_damaging(0.477) tolerated(0.69) neutral(0.160) HMMPfam_NMDAR2_C GRIN2B 2904 genome.wustl.edu 37 12 13906490 13906490 + Silent SNP G G A rs142203984 TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000834.3 -1 reviewed p.I257 0.963 446 0% 328 25.3% 0 - - - - superfamily_SSF53822 ATF7IP 55729 genome.wustl.edu 37 12 14578385 14578385 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018179.3 +1 validated p.S512 0.032 217 0.5% 133 28.6% 22 40.9% - - - NULL ATF7IP 55729 genome.wustl.edu 37 12 14628839 14628839 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018179.3 +1 validated p.G960C 0.886 96 0% 83 26.5% 29 41.3% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) NULL GUCY2C 2984 genome.wustl.edu 37 12 14825806 14825806 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004963.3 -1 validated e9+1 1.000 322 0% 215 33% 0 - - - - - WBP11 51729 genome.wustl.edu 37 12 14944111 14944111 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016312.2 -1 reviewed p.R336H 1.000 205 0% 123 12.2% 83 22.8% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL ARHGDIB 397 genome.wustl.edu 37 12 15095469 15095469 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001175.4 -1 validated p.E198G 0.999 432 0% 244 25% 137 0% benign(0.026) deleterious(0) neutral(0.446) HMMPfam_Rho_GDI,superfamily_E set domains PIK3C2G 5288 genome.wustl.edu 37 12 18649026 18649026 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004570.4 +1 reviewed p.P901S 1.000 22 0.000 8 0.500 29 34.4% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Protein kinase-like (PK-like) PLEKHA5 54477 genome.wustl.edu 37 12 19475256 19475256 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019012.3 +1 validated p.R641* 1.000 166 0% 105 23.8% 23 30.4% - - - NULL SLCO1B3 28234 genome.wustl.edu 37 12 21015790 21015790 + Splice_Site SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019844.2 +1 validated e6+2 1.000 188 0% 127 31.5% 0 - - - - - LST-3TM12 338821 genome.wustl.edu 37 12 21175840 21175840 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001009562.4 +1 validated p.L133I 0.324 485 0% 319 30.7% 0 - probably_damaging(1) tolerated(0.41) deleterious(0.515) HMMPfam_OATP,superfamily_MFS general substrate transporter LST-3TM12 338821 genome.wustl.edu 37 12 21205135 21205135 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001009562.4 +1 validated p.I432M 0.946 470 0% 485 28% 0 - probably_damaging(0.96) tolerated(0.07) deleterious(0.722) HMMPfam_OATP,HMMPfam_Kazal_2,superfamily_MFS general substrate transporter,superfamily_Kazal-type serine protease inhibitors RECQL 5965 genome.wustl.edu 37 12 21628410 21628410 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002907.3 -1 reviewed p.G403E 1.000 224 0% 148 25% 8 12.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCC9 10060 genome.wustl.edu 37 12 22069911 22069911 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005691.2 -1 reviewed p.G178V 1.000 775 0.1% 703 25% 0 - probably_damaging(0.985) tolerated(0.15) deleterious(0.673) NULL KIAA0528 9847 genome.wustl.edu 37 12 22609905 22609905 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014802.1 -1 predicted p.E908D 1.000 233 0% 187 21.9% 21 0% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL KIAA0528 9847 genome.wustl.edu 37 12 22678601 22678601 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014802.1 -1 predicted p.L130I 1.000 397 0% 273 24.9% 7 71.4% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL KIAA0528 9847 genome.wustl.edu 37 12 22680654 22680654 + Splice_Site SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014802.1 -1 predicted e3+1 1.000 245 0% 174 27.6% 0 - - - - - KIAA0528 9847 genome.wustl.edu 37 12 22688245 22688245 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014802.1 -1 predicted p.V42M 1.000 242 0% 154 29.9% 4 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) SOX5 6660 genome.wustl.edu 37 12 23687261 23687261 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006940.4 -1 reviewed p.A728 0.999 284 0% 172 27.3% 0 - - - - NULL SOX5 6660 genome.wustl.edu 37 12 23689492 23689492 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006940.4 -1 reviewed p.R628M 1.000 121 0% 64 14.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_HMG-box C12orf77 196415 genome.wustl.edu 37 12 25148922 25148922 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001101339.1 -1 validated p.R76* 0.000 105 0% 54 11.1% 0 - - - - NULL KRAS 3845 genome.wustl.edu 37 12 25362839 25362839 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004985.3 -1 reviewed p.D153N 1.000 166 0% 92 20.7% 16 25% possibly_damaging(0.766) tolerated(0.25) neutral(0.321) HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases IFLTD1 160492 genome.wustl.edu 37 12 25672811 25672811 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001145728.1 -1 validated p.A333S 0.000 285 0% 171 28.7% 0 - benign(0.013) tolerated(0.07) neutral(0.320) NULL ITPR2 3709 genome.wustl.edu 37 12 26493120 26493120 + Missense_Mutation SNP G G C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002223.2 -1 validated p.L2667V 1.000 133 0% 110 38.2% 4 25% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL ITPR2 3709 genome.wustl.edu 37 12 26628236 26628236 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002223.2 -1 validated p.A2112V 1.000 122 0% 64 34.4% 1 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL ITPR2 3709 genome.wustl.edu 37 12 26775297 26775297 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002223.2 -1 validated p.R1055M 1.000 159 0% 105 35.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ITPR2 3709 genome.wustl.edu 37 12 26807025 26807025 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002223.2 -1 validated p.G875V 1.000 151 0% 101 23.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL C12orf71 728858 genome.wustl.edu 37 12 27235081 27235081 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080406.1 -1 inferred p.D112 0.000 209 0% 114 31.6% 0 - - - - NULL PPFIBP1 8496 genome.wustl.edu 37 12 27787870 27787870 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003622.2 +1 reviewed p.G31V 1.000 347 0.3% 217 29% 9 55.5% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL PPFIBP1 8496 genome.wustl.edu 37 12 27835330 27835330 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003622.2 +1 reviewed p.I686S 1.000 644 0% 428 26.2% 15 33.3% probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_SAM_1,HMMSmart_SAM,superfamily_SAM_homology CCDC91 55297 genome.wustl.edu 37 12 28636989 28636989 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018318.3 +1 validated p.T369N 0.937 114 0% 96 17.7% 40 40% benign(0.17) tolerated(0.43) neutral(0.029) NULL FAR2 55711 genome.wustl.edu 37 12 29423409 29423409 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018099.3 +1 provisional p.G9 0.009 184 0% 104 29.8% 10 50% - - - superfamily_NAD(P)-bd OVCH1 341350 genome.wustl.edu 37 12 29607785 29607785 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_183378.2 -1 validated p.A840V 0.000 89 0% 72 26.4% 0 - benign(0.001) tolerated(0.21) neutral(0.044) NULL CAPRIN2 65981 genome.wustl.edu 37 12 30882148 30882148 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001002259.1 -1 validated p.M406L 0.177 316 0% 238 26.9% 5 40% benign(0.002) tolerated(0.25) neutral(0.037) NULL DENND5B 160518 genome.wustl.edu 37 12 31576588 31576588 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144973.3 -1 validated p.H805Y 1.000 491 0% 291 10.3% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_RUN DENND5B 160518 genome.wustl.edu 37 12 31600541 31600541 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144973.3 -1 validated p.L598M 1.000 144 0% 72 22.2% 1 0% benign(0.022) tolerated(0.07) neutral(0.320) NULL ENSG00000223722 0 genome.wustl.edu 37 12 31907999 31907999 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000453713 +1 known p.L116I 0.625 377 0% 212 23.6% 1 0% - - - HMMPfam_CD225 C12orf35 55196 genome.wustl.edu 37 12 32138389 32138389 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018169.3 +1 validated p.S1500 0.000 125 0% 70 34.3% 49 38.7% - - - NULL DNM1L 10059 genome.wustl.edu 37 12 32858785 32858785 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000381000 +1 known p.H93Y 1.000 541 0% 313 30.7% 0 - benign(0.292) deleterious(0.04) neutral(0.439) HMMPfam_Dynamin_N,HMMSmart_DYNc,superfamily_SSF52540 DNM1L 10059 genome.wustl.edu 37 12 32873729 32873729 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012062.3 +1 reviewed p.R291M 1.000 150 0% 103 9.7% 26 0% possibly_damaging(0.577) tolerated(0.12) neutral(0.459) HMMPfam_Dynamin_M,superfamily_P-loop containing nucleoside triphosphate hydrolases PKP2 5318 genome.wustl.edu 37 12 32975456 32975456 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004572.3 -1 reviewed p.T639I 0.930 157 0% 109 44% 13 46.1% possibly_damaging(0.471) tolerated(0.06) deleterious(0.478) superfamily_ARM repeat SYT10 341359 genome.wustl.edu 37 12 33559921 33559921 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198992.2 -1 provisional p.P294T 1.000 279 0% 151 27.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB CPNE8 144402 genome.wustl.edu 37 12 39087463 39087463 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153634.2 -1 reviewed p.A380V 1.000 474 0% 339 12.1% 2 50% benign(0.013) tolerated(0.08) neutral(0.300) HMMSmart_VWA,HMMPfam_Copine,superfamily_SSF53300 CPNE8 144402 genome.wustl.edu 37 12 39087553 39087553 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153634.2 -1 reviewed p.I350S 1.000 405 0.2% 296 30.7% 4 50% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMSmart_VWA,HMMPfam_Copine,superfamily_SSF53300 ABCD2 225 genome.wustl.edu 37 12 39979986 39979986 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005164.3 -1 reviewed p.V587A 1.000 171 0% 99 16.2% 0 - probably_damaging(0.961) deleterious(0) deleterious(0.849) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCD2 225 genome.wustl.edu 37 12 40013291 40013291 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005164.3 -1 reviewed p.R43C 1.000 165 0% 113 23.9% 0 - probably_damaging(0.968) tolerated(0.08) deleterious(0.710) NULL C12orf40 283461 genome.wustl.edu 37 12 40110611 40110611 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001031748.2 +1 validated p.D489Y 0.920 217 0.9% 229 11.8% 0 - probably_damaging(1) - - NULL SLC2A13 114134 genome.wustl.edu 37 12 40158346 40158346 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052885.3 -1 validated p.A546T 1.000 793 0% 654 13% 9 11.1% probably_damaging(0.981) deleterious(0.01) deleterious(0.831) HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter LRRK2 120892 genome.wustl.edu 37 12 40688680 40688680 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198578.3 +1 reviewed p.R948* 0.078 197 0.5% 186 25.8% 0 - - - - superfamily_SSF52058 LRRK2 120892 genome.wustl.edu 37 12 40728943 40728943 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198578.3 +1 reviewed p.V1978I 1.000 379 0% 245 31.4% 1 0% probably_damaging(0.975) tolerated(0.34) neutral(0.440) superfamily_Kinase_like,HMMPfam_Pkinase CNTN1 1272 genome.wustl.edu 37 12 41410532 41410532 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001843.2 +1 reviewed p.A745T 1.000 336 0% 229 29.3% 3 33.3% possibly_damaging(0.705) deleterious(0.01) deleterious(0.659) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PDZRN4 29951 genome.wustl.edu 37 12 41900431 41900431 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013377.3 +1 validated p.T81 0.998 266 0% 195 30.8% 0 - - - - NULL PDZRN4 29951 genome.wustl.edu 37 12 41967266 41967266 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013377.3 +1 validated p.S637 0.994 424 0% 272 29.8% 0 - - - - NULL PDZRN4 29951 genome.wustl.edu 37 12 41967522 41967522 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013377.3 +1 validated p.G723S 1.000 239 0% 128 26.6% 0 - benign(0.018) tolerated(0.68) neutral(0.003) NULL GXYLT1 283464 genome.wustl.edu 37 12 42481616 42481616 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173601.1 -1 validated p.R432H 0.001 66 1.5% 50 44% 16 56.2% possibly_damaging(0.849) tolerated(0.14) deleterious(0.576) NULL GXYLT1 283464 genome.wustl.edu 37 12 42491289 42491289 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173601.1 -1 validated p.D372 0.993 425 0% 352 27% 18 44.4% - - - HMMPfam_Glyco_transf_8,superfamily_Nucleotide-diphospho-sugar transferases PPHLN1 51535 genome.wustl.edu 37 12 42840067 42840067 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016488.6 +1 reviewed p.S442Y 0.349 94 0% 49 24.5% 16 25% possibly_damaging(0.819) deleterious(0) deleterious(0.754) NULL ADAMTS20 80070 genome.wustl.edu 37 12 43822249 43822249 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025003.3 -1 validated p.D1247G 1.000 146 0% 94 35.1% 0 - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat ADAMTS20 80070 genome.wustl.edu 37 12 43822577 43822577 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025003.3 -1 validated p.T1172N 0.001 247 0% 177 27.7% 0 - benign(0.001) tolerated(0.32) neutral(0.024) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat PUS7L 83448 genome.wustl.edu 37 12 44130305 44130305 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098614.1 -1 validated p.T535I 1.000 413 0% 225 30.2% 11 27.2% benign(0.017) tolerated(0.08) neutral(0.300) HMMPfam_TruD,superfamily_PsdUridine_synth_cat_dom IRAK4 51135 genome.wustl.edu 37 12 44161948 44161948 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001114182.2 +1 reviewed p.R12C 1.000 122 0% 68 22.1% 7 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_DEATH domain NELL2 4753 genome.wustl.edu 37 12 45168601 45168601 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001145107.1 -1 reviewed p.C358Y 1.000 167 0% 91 24.2% 1 0% possibly_damaging(0.557) deleterious(0.01) deleterious(0.596) HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1,superfamily_ConA_like_lec_gl PLEKHA8P1 51054 genome.wustl.edu 37 12 45567211 45567211 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015899.1 -1 provisional p.I313T 1.000 367 0% 214 33.6% 9 44.4% - - - HMMPfam_GLTP,superfamily_Glycolipid_transfer_prot SCAF11 9169 genome.wustl.edu 37 12 46320497 46320497 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004719.2 -1 validated p.T996I 0.438 869 0% 501 25.3% 46 43.4% benign(0.271) deleterious(0) deleterious(0.474) NULL SCAF11 9169 genome.wustl.edu 37 12 46320850 46320850 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004719.2 -1 validated p.S878 0.721 794 0.1% 493 12.2% 36 25% - - - NULL AMIGO2 347902 genome.wustl.edu 37 12 47471706 47471706 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001143668.1 -1 validated p.V360 0.988 276 0.4% 132 27.3% 4 75% - - - HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 VDR 7421 genome.wustl.edu 37 12 48251360 48251360 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000376.2 -1 reviewed p.R130H 0.958 148 0% 96 32.3% 11 18.1% benign(0.004) tolerated(0.28) neutral(0.032) superfamily_Nuclear receptor ligand-binding domain VDR 7421 genome.wustl.edu 37 12 48272799 48272799 + Missense_Mutation SNP C C T rs121909790 TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000376.2 -1 reviewed p.G33D 1.000 66 0% 43 32.6% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C4,HMMSmart_SM00399,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) TMEM106C 79022 genome.wustl.edu 37 12 48358169 48358169 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001143842.1 +1 validated p.T50 1.000 116 0% 60 41.7% 231 42.8% - - - HMMPfam_DUF1356 SENP1 29843 genome.wustl.edu 37 12 48465492 48465492 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014554.2 -1 validated p.V318A 1.000 123 0% 83 39.8% 12 41.6% benign(0.418) tolerated(0.23) neutral(0.177) NULL ZNF641 121274 genome.wustl.edu 37 12 48741746 48741746 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152320.2 -1 validated p.P57H 0.986 66 0% 30 16.7% 8 37.5% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL LOC100288297 100288297 genome.wustl.edu 37 12 49075278 49075278 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002343165.1 +1 model p.A63T 1.000 266 0% 143 30.1% 19 47.3% - - - NULL ADCY6 112 genome.wustl.edu 37 12 49171215 49171215 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015270.3 -1 reviewed p.A409V 1.000 168 0% 102 10.8% 23 8.6% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain DDX23 9416 genome.wustl.edu 37 12 49224397 49224397 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004818.2 -1 reviewed p.S773Y 1.000 116 0% 36 22.2% 119 44.5% probably_damaging(0.98) deleterious(0) deleterious(0.869) superfamily_P-loop containing nucleoside triphosphate hydrolases CCDC65 85478 genome.wustl.edu 37 12 49315112 49315112 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033124.4 +1 validated p.D447 0.847 201 0% 116 28.4% 1 0% - - - NULL MLL2 8085 genome.wustl.edu 37 12 49420068 49420068 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003482.3 -1 validated p.C5227* 1.000 101 0% 51 37.3% 14 35.7% - - - HMMPfam_FYRN,HMMSmart_SM00541 MLL2 8085 genome.wustl.edu 37 12 49438017 49438017 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003482.3 -1 validated p.A1718 0.998 62 0% 26 19.2% 2 100% - - - NULL TUBA1A 7846 genome.wustl.edu 37 12 49580443 49580443 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006009.2 -1 reviewed p.G59 1.000 394 0% 250 34% 500 35.2% - - - HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like TUBA1C 84790 genome.wustl.edu 37 12 49666252 49666252 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032704.3 +1 provisional p.S198P 1.000 262 0% 129 18.6% 1403 11.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Tubulin,superfamily_Tubulin_FtsZ TROAP 10024 genome.wustl.edu 37 12 49724677 49724677 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005480.3 +1 validated p.S683 0.974 626 0% 262 25.6% 21 38% - - - NULL SPATS2 65244 genome.wustl.edu 37 12 49912932 49912932 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_023071.3 +1 validated p.E325D 1.000 155 0% 117 14.5% 67 11.9% probably_damaging(0.997) tolerated(0.21) deleterious(0.510) HMMPfam_DUF1387 MCRS1 10445 genome.wustl.edu 37 12 49958615 49958615 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001012300.1 -1 validated p.R131C 1.000 77 0% 30 20% 70 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM186B 84070 genome.wustl.edu 37 12 49992595 49992595 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032130.2 -1 validated p.K769N 0.029 147 0% 76 21.1% 0 - benign(0.399) deleterious(0.01) deleterious(0.534) NULL FAM186B 84070 genome.wustl.edu 37 12 49994478 49994478 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032130.2 -1 validated p.E315D 0.987 721 0.1% 333 13.8% 0 - benign(0.316) deleterious(0) deleterious(0.543) NULL NCKAP5L 57701 genome.wustl.edu 37 12 50186235 50186235 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000433948 -1 known p.P977S 0.954 37 0% 15 33.3% 11 36.3% - - - NULL NCKAP5L 57701 genome.wustl.edu 37 12 50196894 50196894 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001037806.3 -1 validated p.R60C 1.000 169 0% 71 36.6% 10 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAIM2 23017 genome.wustl.edu 37 12 50264311 50264311 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012306.2 -1 validated p.Q309H 1.000 52 0% 15 40% 52 61.5% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_UPF0005 FAIM2 23017 genome.wustl.edu 37 12 50283284 50283284 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012306.2 -1 validated p.V211I 0.039 112 0% 47 17% 66 46.9% benign(0) tolerated(1) - HMMPfam_UPF0005 LOC100131403 100131403 genome.wustl.edu 37 12 50348009 50348009 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_001718330.1 -1 model p.A37T 0.997 49 2% 11 45.5% 0 - - - - NULL AQP5 362 genome.wustl.edu 37 12 50358928 50358928 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001651.2 +1 reviewed p.R256W 1.000 14 0% 13 53.8% 14 7.1% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL GPD1 2819 genome.wustl.edu 37 12 50500176 50500176 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005276.2 +1 provisional p.V156M 1.000 97 0% 58 10.3% 0 - probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_NAD_Gly3P_dh_N,superfamily_NAD(P)-bd LIMA1 51474 genome.wustl.edu 37 12 50571641 50571641 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001113546.1 -1 validated p.A497T 1.000 173 0% 125 24% 17 47% benign(0.077) tolerated(0.09) neutral(0.302) NULL DIP2B 57609 genome.wustl.edu 37 12 51065091 51065091 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173602.2 +1 validated p.T184A 1.000 222 0% 126 24.6% 9 33.3% probably_damaging(0.988) tolerated(0.06) deleterious(0.760) NULL DIP2B 57609 genome.wustl.edu 37 12 51086795 51086795 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173602.2 +1 validated p.A573V 1.000 274 0% 144 23.6% 8 25% benign(0.025) deleterious(0.02) neutral(0.384) superfamily_Acetyl-CoA synthetase-like DIP2B 57609 genome.wustl.edu 37 12 51128873 51128873 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173602.2 +1 validated p.R1354H 0.999 137 0.7% 83 15.7% 15 6.6% possibly_damaging(0.939) deleterious(0.01) deleterious(0.790) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like DIP2B 57609 genome.wustl.edu 37 12 51133245 51133245 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173602.2 +1 validated p.S1410 0.761 236 0% 133 24.1% 13 30.7% - - - HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like SLC11A2 4891 genome.wustl.edu 37 12 51390699 51390699 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000617.2 -1 reviewed p.S244 1.000 149 0% 86 30.2% 41 70.7% - - - HMMPfam_Nramp SLC11A2 4891 genome.wustl.edu 37 12 51402405 51402405 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000617.2 -1 reviewed p.S13G 0.032 421 0% 233 27.5% 19 89.4% benign(0) tolerated(0.46) neutral(0.012) NULL LETMD1 25875 genome.wustl.edu 37 12 51449937 51449937 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015416.3 +1 validated p.G224D 0.995 318 0% 201 29.9% 22 59% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_LETM1 CSRNP2 81566 genome.wustl.edu 37 12 51458316 51458316 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030809.1 -1 provisional p.R282Q 1.000 170 0% 85 24.7% 29 55.1% possibly_damaging(0.881) tolerated(0.27) neutral(0.377) NULL CELA1 1990 genome.wustl.edu 37 12 51723539 51723539 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001971.5 -1 reviewed p.R230W 0.001 327 0.3% 217 27.2% 0 - benign(0) tolerated(0.19) neutral(0.050) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys SCN8A 6334 genome.wustl.edu 37 12 52080960 52080960 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014191.2 +1 reviewed p.R191W 1.000 202 0% 124 25.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN8A 6334 genome.wustl.edu 37 12 52081003 52081003 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014191.2 +1 reviewed p.A205V 1.000 195 0% 116 21.6% 0 - probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SCN8A 6334 genome.wustl.edu 37 12 52100280 52100280 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014191.2 +1 reviewed p.G472 0.990 114 0% 54 22.2% 0 - - - - NULL SCN8A 6334 genome.wustl.edu 37 12 52180592 52180592 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014191.2 +1 reviewed p.Y1403* 0.967 118 0% 86 27.9% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels ANKRD33 341405 genome.wustl.edu 37 12 52282512 52282512 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182608.3 +1 validated p.A102 0.998 80 1.3% 44 15.9% 0 - - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat ACVR1B 91 genome.wustl.edu 37 12 52370192 52370192 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004302.3 +1 reviewed p.L138P 0.999 218 0% 118 32.2% 10 30% possibly_damaging(0.865) deleterious(0.05) deleterious(0.680) NULL GRASP 160622 genome.wustl.edu 37 12 52402997 52402997 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181711.2 +1 provisional p.N90K 0.911 115 0% 48 16.7% 0 - benign(0.055) deleterious(0.04) neutral(0.352) superfamily_PDZ domain-like KRT86 3892 genome.wustl.edu 37 12 52702274 52702274 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002284.3 +1 reviewed p.V456I 0.993 41 0% 13 38.5% 3 0% benign(0.001) tolerated(0.98) - NULL KRT85 3891 genome.wustl.edu 37 12 52758820 52758820 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002283.3 -1 reviewed p.C185 0.486 136 0% 53 28.3% 0 - - - - HMMPfam_Filament KRT85 3891 genome.wustl.edu 37 12 52758913 52758913 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002283.3 -1 reviewed p.K154 0.941 209 0% 72 13.9% 0 - - - - HMMPfam_Filament KRT75 9119 genome.wustl.edu 37 12 52818412 52818412 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004693.2 -1 reviewed p.G515 1.000 172 0% 95 12.6% 0 - - - - NULL KRT6B 3854 genome.wustl.edu 37 12 52843379 52843379 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005555.3 -1 reviewed p.S317 0.567 724 0% 377 31.6% 0 - - - - HMMPfam_Filament KRT6C 286887 genome.wustl.edu 37 12 52867237 52867237 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173086.4 -1 reviewed p.G95 0.098 175 0% 104 31.7% 0 - - - - NULL KRT72 140807 genome.wustl.edu 37 12 52984716 52984716 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080747.2 -1 reviewed p.Q331H 0.718 257 0% 138 21.7% 0 - possibly_damaging(0.628) deleterious(0.03) deleterious(0.584) HMMPfam_Filament KRT77 374454 genome.wustl.edu 37 12 53096799 53096799 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175078.2 -1 reviewed p.T140 0.613 302 0% 169 14.8% 0 - - - - NULL KRT76 51350 genome.wustl.edu 37 12 53162582 53162582 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015848.4 -1 reviewed p.S611I 0.017 195 0% 93 37.6% 0 - unknown(0) tolerated(0.13) - NULL KRT76 51350 genome.wustl.edu 37 12 53169201 53169201 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015848.4 -1 reviewed p.M262I 1.000 323 0% 184 22.3% 0 - benign(0.235) deleterious(0.03) neutral(0.388) HMMPfam_Filament KRT79 338785 genome.wustl.edu 37 12 53228040 53228040 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175834.2 -1 reviewed p.R2M 0.001 36 0% 27 22.2% 0 - possibly_damaging(0.528) deleterious(0.01) deleterious(0.584) NULL KRT8 3856 genome.wustl.edu 37 12 53295843 53295843 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002273.3 -1 reviewed p.E113V 1.000 78 0% 48 20.8% 394 39% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Filament KRT18 3875 genome.wustl.edu 37 12 53345577 53345577 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000224.2 +1 reviewed p.T295 0.002 112 0% 66 34.8% 1013 45.1% - - - HMMPfam_Filament EIF4B 1975 genome.wustl.edu 37 12 53416289 53416289 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001417.4 +1 validated p.R182H 1.000 290 0% 169 24.3% 376 43.3% benign(0.019) deleterious(0.03) neutral(0.365) superfamily_SSF54928 TENC1 23371 genome.wustl.edu 37 12 53451420 53451420 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015319.2 +1 reviewed p.H315Q 0.998 299 0% 123 22% 16 12.5% benign(0.169) deleterious(0.02) neutral(0.399) superfamily_C2_CaLB,HMMPfam_PTEN_C2 ITGB7 3695 genome.wustl.edu 37 12 53585680 53585680 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000889.1 -1 provisional p.R760H 1.000 238 0% 110 11.8% 14 21.4% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Integrin_b_cyt C12orf10 60314 genome.wustl.edu 37 12 53700835 53700835 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021640.3 +1 validated p.A345T 1.000 146 0% 68 29.4% 34 8.8% benign(0) tolerated(0.26) neutral(0.034) HMMPfam_UPF0160 SP7 121340 genome.wustl.edu 37 12 53722253 53722253 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152860.1 -1 provisional p.V325I 1.000 121 0% 45 22.2% 0 - possibly_damaging(0.729) deleterious(0) deleterious(0.710) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SP1 6667 genome.wustl.edu 37 12 53776039 53776039 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138473.2 +1 validated p.G103D 0.999 84 0% 52 25% 24 58.3% benign(0.008) deleterious(0.02) neutral(0.383) NULL AMHR2 269 genome.wustl.edu 37 12 53819306 53819306 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020547.2 +1 reviewed p.G190 0.002 139 0% 69 26.1% 0 - - - - superfamily_Protein kinase-like (PK-like) MAP3K12 7786 genome.wustl.edu 37 12 53880794 53880794 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006301.2 -1 reviewed p.L95M 1.000 92 0% 29 31% 1 0% possibly_damaging(0.729) tolerated(0.11) deleterious(0.537) NULL HOXC11 3227 genome.wustl.edu 37 12 54367039 54367039 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014212.3 +1 reviewed p.V5A 1.000 72 0% 24 16.7% 0 - possibly_damaging(0.465) deleterious(0) deleterious(0.598) NULL HOXC11 3227 genome.wustl.edu 37 12 54367393 54367393 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014212.3 +1 reviewed p.G123D 1.000 147 0% 90 27.8% 0 - probably_damaging(0.98) tolerated(0.13) deleterious(0.676) NULL HOXC10 3226 genome.wustl.edu 37 12 54383198 54383198 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017409.3 +1 reviewed p.R333W 1.000 132 0% 59 20.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL HOXC8 3224 genome.wustl.edu 37 12 54403504 54403504 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022658.3 +1 reviewed p.A146T 1.000 459 0.2% 277 27.1% 0 - probably_damaging(0.98) deleterious(0) deleterious(0.869) superfamily_Homeodomain-like HNRNPA1 3178 genome.wustl.edu 37 12 54676050 54676050 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031157.2 +1 reviewed p.T152 1.000 116 0.9% 78 25.6% 395 44.5% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD GTSF1 121355 genome.wustl.edu 37 12 54857035 54857035 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144594.2 -1 validated p.A55D 1.000 153 0% 84 34.5% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_UPF0224 NCKAP1L 3071 genome.wustl.edu 37 12 54910705 54910705 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005337.4 +1 reviewed p.Q342* 0.297 377 0% 224 21.9% 8 0% - - - HMMPfam_Nckap1 NCKAP1L 3071 genome.wustl.edu 37 12 54917740 54917740 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005337.4 +1 reviewed p.R719I 1.000 389 0% 235 11.5% 13 0% possibly_damaging(0.852) deleterious(0.02) deleterious(0.711) HMMPfam_Nckap1 PDE1B 5153 genome.wustl.edu 37 12 54964077 54964077 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000924.3 +1 validated p.D177V 1.000 442 0% 235 18.3% 1 100% benign(0.289) deleterious(0.01) deleterious(0.495) superfamily_SSF109604 PHC1P1 653441 genome.wustl.edu 37 12 55806343 55806343 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000326184 -1 known p.Q726H 1.000 174 0.6% 93 30.1% 8 0% - - - NULL ITGA7 3679 genome.wustl.edu 37 12 56091510 56091510 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001144996.1 -1 reviewed p.G464S 1.000 243 0% 136 31.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FG-GAP,HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain ITGA7 3679 genome.wustl.edu 37 12 56091736 56091736 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001144996.1 -1 reviewed p.A427T 0.001 738 0.1% 400 24% 1 0% benign(0) tolerated(1) - HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain ITGA7 3679 genome.wustl.edu 37 12 56094911 56094911 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001144996.1 -1 reviewed p.Q148* 1.000 280 0% 128 30.5% 3 0% - - - superfamily_Integrin alpha N-terminal domain BLOC1S1 2647 genome.wustl.edu 37 12 56113369 56113369 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001487.2 +1 validated p.G118 0.955 102 0% 34 26.5% 113 35.3% - - - HMMPfam_GCN5L1 DGKA 1606 genome.wustl.edu 37 12 56332729 56332729 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001345.4 +1 reviewed p.R144* 1.000 249 0.4% 136 24.3% 4 0% - - - superfamily_EF-hand DGKA 1606 genome.wustl.edu 37 12 56334409 56334409 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001345.4 +1 reviewed p.I307T 1.000 195 0% 97 12.4% 17 5.8% benign(0.125) deleterious(0.04) neutral(0.359) HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_Cysteine-rich domain DGKA 1606 genome.wustl.edu 37 12 56345564 56345564 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001345.4 +1 reviewed p.G528 0.985 256 0% 122 23.8% 16 12.5% - - - HMMPfam_DAGK_acc,HMMSmart_SM00045 RAB5B 5869 genome.wustl.edu 37 12 56384571 56384571 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002868.2 +1 validated p.R141C 1.000 477 0% 262 14.5% 120 18.3% 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 ERBB3 2065 genome.wustl.edu 37 12 56491014 56491014 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001982.2 +1 reviewed p.K820N 1.000 127 0% 79 29.1% 32 3.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) ZC3H10 84872 genome.wustl.edu 37 12 56515637 56515637 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032786.1 +1 provisional p.A431T 1.000 99 0% 46 37% 10 40% benign(0.03) tolerated(0.28) neutral(0.033) NULL MYL6B 140465 genome.wustl.edu 37 12 56548841 56548841 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002475.3 +1 reviewed p.F69I 1.000 295 0% 109 30.3% 37 45.9% possibly_damaging(0.522) deleterious(0.02) deleterious(0.559) HMMSmart_EFh,superfamily_SSF47473 SMARCC2 6601 genome.wustl.edu 37 12 56561850 56561850 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003075.3 -1 reviewed p.R917 0.999 355 0% 150 28% 41 51.2% - - - NULL SMARCC2 6601 genome.wustl.edu 37 12 56571869 56571869 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003075.3 -1 reviewed p.A440D 1.000 94 0% 48 35.4% 49 40.8% probably_damaging(0.988) tolerated(0.59) neutral(0.442) HMMPfam_SWIRM SMARCC2 6601 genome.wustl.edu 37 12 56581037 56581037 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003075.3 -1 reviewed p.Q55H 1.000 370 0% 164 29.3% 29 41.3% probably_damaging(0.99) tolerated(0.13) deleterious(0.694) NULL ANKRD52 283373 genome.wustl.edu 37 12 56641907 56641907 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173595.3 -1 validated p.T626 0.473 130 0% 88 31.8% 9 44.4% - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ANKRD52 283373 genome.wustl.edu 37 12 56645970 56645970 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173595.3 -1 validated p.D500 1.000 179 0% 87 26.4% 10 40% - - - HMMPfam_Ank,HMMSmart_ANK COQ10A 93058 genome.wustl.edu 37 12 56662966 56662966 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144576.3 +1 validated p.E135D 0.997 174 0% 100 14% 4 0% possibly_damaging(0.917) tolerated(0.24) neutral(0.405) HMMPfam_Polyketide_cyc COQ10A 93058 genome.wustl.edu 37 12 56662972 56662972 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144576.3 +1 validated p.G137 0.991 173 0% 95 13.7% 5 0% - - - HMMPfam_Polyketide_cyc CS 1431 genome.wustl.edu 37 12 56676252 56676252 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004077.2 -1 reviewed p.N180 1.000 132 0% 80 26.3% 182 46.1% - - - HMMPfam_Citrate_synt,superfamily_Citrate_synthase_core CS 1431 genome.wustl.edu 37 12 56677608 56677608 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004077.2 -1 reviewed p.V79I 1.000 90 0% 50 16% 106 14.1% benign(0.001) tolerated(0.14) neutral(0.249) HMMPfam_Citrate_synt,superfamily_Citrate_synthase_core PAN2 9924 genome.wustl.edu 37 12 56720582 56720582 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001127460.2 -1 reviewed p.P361T 1.000 282 0% 151 29.8% 6 66.6% benign(0.137) deleterious(0.02) neutral(0.395) NULL PAN2 9924 genome.wustl.edu 37 12 56720671 56720671 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001127460.2 -1 reviewed p.P331H 1.000 352 0% 156 27.6% 12 66.6% benign(0.001) tolerated(0.19) neutral(0.050) superfamily_WD40 repeat-like IL23A 51561 genome.wustl.edu 37 12 56732968 56732968 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016584.2 +1 reviewed p.A47V 0.916 65 0% 29 27.6% 1 0% possibly_damaging(0.893) deleterious(0) deleterious(0.796) HMMPfam_IL6,superfamily_4_helix_cytokine APOF 319 genome.wustl.edu 37 12 56755043 56755043 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001638.2 -1 reviewed p.D316A 0.000 164 0% 92 29.3% 0 - benign(0.075) tolerated(0.34) neutral(0.028) NULL APOF 319 genome.wustl.edu 37 12 56755333 56755333 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001638.2 -1 reviewed p.I219M 0.963 134 0% 69 29% 0 - probably_damaging(0.973) deleterious(0.01) deleterious(0.821) NULL APOF 319 genome.wustl.edu 37 12 56755371 56755371 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001638.2 -1 reviewed p.L207M 0.071 101 0% 53 45.3% 0 - possibly_damaging(0.815) tolerated(0.08) deleterious(0.607) NULL TIMELESS 8914 genome.wustl.edu 37 12 56826189 56826189 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003920.3 -1 validated p.H217 0.719 166 0.6% 99 19.2% 22 22.7% - - - HMMPfam_TIMELESS GLS2 27165 genome.wustl.edu 37 12 56865932 56865932 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013267.2 -1 reviewed p.R520H 1.000 378 0% 162 27.2% 17 41.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat GLS2 27165 genome.wustl.edu 37 12 56872043 56872043 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000486896 -1 known p.W168* 1.000 101 0% 44 18.2% 4 0% - - - NULL RBMS2 5939 genome.wustl.edu 37 12 56963689 56963689 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002898.3 +1 reviewed p.G100D 1.000 323 0% 195 27.7% 11 18.1% - - - HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 RBMS2 5939 genome.wustl.edu 37 12 56965565 56965565 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002898.3 +1 reviewed p.K156N 1.000 234 0% 144 23.6% 5 60% probably_damaging(0.995) tolerated(0.12) deleterious(0.718) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 BAZ2A 11176 genome.wustl.edu 37 12 57006024 57006024 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013449.3 -1 validated p.S383I 1.000 89 0% 45 24.4% 29 68.9% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL NACA 4666 genome.wustl.edu 37 12 57112749 57112749 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001113203.1 -1 validated p.S855 0.116 44 0% 20 25% 2 0% - - - NULL GPR182 11318 genome.wustl.edu 37 12 57389885 57389885 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007264.3 +1 reviewed p.L298F 0.998 588 0.2% 334 21.9% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_7tm_1,superfamily_SSF81321 NAB2 4665 genome.wustl.edu 37 12 57486740 57486740 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005967.3 +1 reviewed p.L378M 0.998 237 0% 124 29% 8 37.5% probably_damaging(0.958) deleterious(0.03) deleterious(0.766) NULL STAT6 6778 genome.wustl.edu 37 12 57490408 57490408 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003153.4 -1 reviewed p.Q831* 1.000 159 0% 67 37.3% 26 30.7% - - - NULL LRP1 4035 genome.wustl.edu 37 12 57593141 57593141 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002332.2 +1 reviewed p.P3275S 1.000 168 0% 99 38.4% 16 43.7% probably_damaging(0.973) tolerated(0.57) neutral(0.421) HMMPfam_Ldl_recept_b,superfamily_YWTD domain STAC3 246329 genome.wustl.edu 37 12 57642900 57642900 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145064.1 -1 provisional p.N86 0.994 196 0% 120 40% 3 66.6% - - - superfamily_Cysteine-rich domain R3HDM2 22864 genome.wustl.edu 37 12 57663729 57663729 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014925.3 -1 validated p.G451C 1.000 220 0% 127 26% 47 48.9% probably_damaging(1) tolerated(0.09) deleterious(0.796) NULL INHBC 3626 genome.wustl.edu 37 12 57843362 57843362 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005538.2 +1 reviewed p.A206T 0.371 330 0.3% 171 22.2% 0 - benign(0.043) tolerated(0.31) neutral(0.029) NULL INHBE 83729 genome.wustl.edu 37 12 57849560 57849560 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031479.3 +1 validated p.P81S 0.092 86 0% 41 43.9% 0 - benign(0.001) tolerated(0.47) neutral(0.011) NULL ARHGAP9 64333 genome.wustl.edu 37 12 57872529 57872529 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032496.2 -1 reviewed p.F110V 0.005 97 0% 51 27.5% 2 0% benign(0.006) tolerated(0.63) neutral(0.004) NULL KIF5A 3798 genome.wustl.edu 37 12 57960923 57960923 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004984.2 +1 reviewed p.R172 1.000 311 0% 198 32.8% 0 - - - - HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases DTX3 196403 genome.wustl.edu 37 12 58002333 58002333 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000413885 +1 known p.P264T 0.929 134 0% 74 32.4% 13 23% benign(0.003) tolerated(0.44) neutral(0.013) NULL SLC26A10 65012 genome.wustl.edu 37 12 58014142 58014142 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133489.2 +1 validated p.L47M 1.000 1625 0% 758 26.9% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL OS9 10956 genome.wustl.edu 37 12 58112087 58112087 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006812.3 +1 reviewed p.Q431H 0.600 229 0.4% 140 26.4% 160 36.8% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL CDK4 1019 genome.wustl.edu 37 12 58143260 58143260 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000312990 -1 known p.P103L 0.999 264 0% 153 26.8% 195 38.4% possibly_damaging(0.824) tolerated(0.15) deleterious(0.553) NULL CYP27B1 1594 genome.wustl.edu 37 12 58157496 58157496 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000785.3 -1 reviewed p.G437 0.000 95 0% 49 16.3% 5 40% - - - HMMPfam_p450,superfamily_Cytochrome P450 METTL21B 25895 genome.wustl.edu 37 12 58174096 58174096 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015433.2 +1 validated p.V116 0.944 97 1% 69 33.3% 10 30% - - - HMMPfam_Methyltransf_16,superfamily_S-adenosyl-L-methionine-dependent methyltransferases METTL21B 25895 genome.wustl.edu 37 12 58174124 58174124 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015433.2 +1 validated p.A126T 1.000 101 1% 58 20.7% 10 70% benign(0.002) tolerated(0.22) neutral(0.042) HMMPfam_Methyltransf_16,superfamily_S-adenosyl-L-methionine-dependent methyltransferases TSFM 10102 genome.wustl.edu 37 12 58190114 58190114 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005726.5 +1 reviewed p.T242 0.011 41 0% 29 13.8% 71 43.6% - - - HMMPfam_EF_TS,superfamily_Elongation factor Ts (EF-Ts) dimerisation domain AVIL 10677 genome.wustl.edu 37 12 58201228 58201228 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006576.3 -1 reviewed p.Q459H 1.000 199 0% 107 37.4% 0 - benign(0) tolerated(0.25) neutral(0.037) HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins LRIG3 121227 genome.wustl.edu 37 12 59270371 59270371 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153377.3 -1 provisional p.P851S 1.000 205 0% 85 28.2% 20 30% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL LRIG3 121227 genome.wustl.edu 37 12 59308082 59308082 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153377.3 -1 provisional p.A91V 1.000 308 0% 179 10.6% 5 0% benign(0.002) tolerated(0.6) neutral(0.004) HMMSmart_SM00369 SLC16A7 9194 genome.wustl.edu 37 12 60098690 60098690 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004731.3 +1 provisional p.F36 1.000 128 0% 93 33.3% 0 - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter FAM19A2 338811 genome.wustl.edu 37 12 62147443 62147443 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178539.3 -1 reviewed p.G115V 1.000 228 0.4% 250 28.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MON2 23041 genome.wustl.edu 37 12 62926268 62926268 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015026.2 +1 validated p.A484V 1.000 308 0% 235 28.1% 7 28.5% benign(0.007) tolerated(0.24) neutral(0.037) NULL MON2 23041 genome.wustl.edu 37 12 62940702 62940702 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015026.2 +1 validated p.P868L 1.000 101 0% 77 24.7% 7 57.1% probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMPfam_DUF1981,superfamily_ARM-type_fold AVPR1A 552 genome.wustl.edu 37 12 63543674 63543674 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000706.3 -1 reviewed p.V315I 0.999 180 0% 95 21.1% 0 - benign(0.408) deleterious(0.01) deleterious(0.538) HMMPfam_7tm_1,superfamily_SSF81321 DPY19L2 283417 genome.wustl.edu 37 12 64061883 64061883 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173812.4 -1 validated p.Q97H 0.000 184 0% 99 12.1% 2 0% benign(0) tolerated(0.67) neutral(0.003) NULL SRGAP1 57522 genome.wustl.edu 37 12 64410742 64410742 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020762.2 +1 validated p.A147T 1.000 169 1.2% 110 30.9% 1 0% benign(0) tolerated(0.16) neutral(0.059) NULL SRGAP1 57522 genome.wustl.edu 37 12 64509594 64509594 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020762.2 +1 validated p.C715 0.930 108 0.9% 78 17.9% 3 0% - - - NULL C12orf66 144577 genome.wustl.edu 37 12 64588303 64588303 + Silent SNP C C T rs185163970 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152440.4 -1 validated p.A219 1.000 247 0% 125 28.8% 5 20% - - - HMMPfam_DUF2003 XPOT 11260 genome.wustl.edu 37 12 64810487 64810487 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007235.3 +1 reviewed p.H51 1.000 150 0% 82 26.8% 61 54% - - - superfamily_ARM-type_fold LEMD3 23592 genome.wustl.edu 37 12 65639990 65639990 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014319.4 +1 reviewed p.R874H 1.000 211 0% 156 26.9% 18 27.7% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL MSRB3 253827 genome.wustl.edu 37 12 65847599 65847599 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198080.2 +1 validated p.C135* 1.000 371 0% 208 28.4% 8 0% - - - HMMPfam_SelR,superfamily_Mss4_like IRAK3 11213 genome.wustl.edu 37 12 66638321 66638321 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007199.2 +1 reviewed p.A315S 1.000 288 0% 176 29.5% 1 0% possibly_damaging(0.799) deleterious(0.01) deleterious(0.707) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CAND1 55832 genome.wustl.edu 37 12 67703958 67703958 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018448.3 +1 validated p.T1074 0.556 289 0% 158 32.3% 99 36.3% - - - HMMPfam_TIP120,superfamily_ARM repeat DYRK2 8445 genome.wustl.edu 37 12 68051542 68051542 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006482.2 +1 reviewed p.I285 1.000 528 0.2% 308 26.9% 27 51.8% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase RAP1B 5908 genome.wustl.edu 37 12 69044198 69044198 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001010942.1 +1 validated p.G26* 1.000 110 0% 79 27.8% 60 26.6% - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases RAP1B 5908 genome.wustl.edu 37 12 69044218 69044218 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001010942.1 +1 validated p.Y32 0.998 121 0% 79 19% 53 54.7% - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases NUP107 57122 genome.wustl.edu 37 12 69103019 69103019 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020401.2 +1 reviewed p.A244D 0.759 151 0.7% 111 37.8% 34 32.3% benign(0.005) tolerated(0.32) neutral(0.024) HMMPfam_Nup84_Nup100 NUP107 57122 genome.wustl.edu 37 12 69115884 69115884 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020401.2 +1 reviewed p.N486 1.000 229 0% 130 28.5% 32 53.1% - - - HMMPfam_Nup84_Nup100 SLC35E3 55508 genome.wustl.edu 37 12 69140401 69140401 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018656.2 +1 validated p.L82I 1.000 145 0.7% 84 23.8% 20 40% possibly_damaging(0.592) tolerated(0.08) deleterious(0.504) NULL CPSF6 11052 genome.wustl.edu 37 12 69650509 69650509 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007007.2 +1 validated p.S136Y 1.000 275 0.4% 197 27.4% 78 35.8% unknown(0) deleterious(0) - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD CCT2 10576 genome.wustl.edu 37 12 69985880 69985880 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006431.2 +1 reviewed p.R231* 0.999 156 0.6% 111 27% 123 2.4% - - - HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like,superfamily_GroEL apical domain-like,superfamily_GroEL-intermediate domain like CCT2 10576 genome.wustl.edu 37 12 69993775 69993775 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006431.2 +1 reviewed p.A523V 1.000 194 0.5% 112 26.8% 213 9.8% possibly_damaging(0.949) deleterious(0.01) deleterious(0.798) HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like RAB3IP 117177 genome.wustl.edu 37 12 70194051 70194051 + Silent SNP G G A rs138194807 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175623.2 +1 validated p.T333 0.409 168 0% 136 27.2% 19 42.1% - - - NULL PTPRB 5787 genome.wustl.edu 37 12 70956726 70956726 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001109754.1 -1 reviewed p.S1356R 1.000 412 0% 274 23.7% 6 16.6% benign(0.007) tolerated(0.5) neutral(0.010) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PTPRB 5787 genome.wustl.edu 37 12 70960253 70960253 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001109754.1 -1 reviewed p.G1289D 1.000 187 0% 135 37% 4 0% probably_damaging(1) tolerated(0.11) deleterious(0.772) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PTPRB 5787 genome.wustl.edu 37 12 70975053 70975053 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001109754.1 -1 reviewed p.A781T 0.071 255 0% 156 30.1% 3 66.6% benign(0.001) tolerated(1) - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PTPRR 5801 genome.wustl.edu 37 12 71095018 71095018 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002849.2 -1 reviewed p.K365E 1.000 278 0.4% 189 12.7% 0 - benign(0.001) tolerated(0.42) neutral(0.014) superfamily_(Phosphotyrosine protein) phosphatases II PTPRR 5801 genome.wustl.edu 37 12 71095097 71095097 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002849.2 -1 reviewed p.G338 0.935 234 0% 163 11% 0 - - - - NULL TSPAN8 7103 genome.wustl.edu 37 12 71533509 71533509 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004616.2 -1 reviewed p.S81R 0.741 1111 0.1% 729 29.8% 79 46.8% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_Tetraspannin,PatternScan_TM4_1 ZFC3H1 196441 genome.wustl.edu 37 12 72009011 72009011 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144982.4 -1 validated p.V1744I 1.000 225 0% 173 18.5% 22 18.1% benign(0) tolerated(0.3) neutral(0.029) NULL ZFC3H1 196441 genome.wustl.edu 37 12 72028540 72028540 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144982.4 -1 validated p.E768D 1.000 128 0% 86 30.2% 2 50% benign(0.016) tolerated(0.06) neutral(0.323) NULL THAP2 83591 genome.wustl.edu 37 12 72068044 72068044 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031435.2 +1 provisional p.V45M 1.000 126 0% 101 31.7% 11 36.3% probably_damaging(0.96) tolerated(0.12) deleterious(0.663) HMMPfam_THAP,HMMSmart_SM00692 THAP2 83591 genome.wustl.edu 37 12 72070524 72070524 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031435.2 +1 provisional p.P108Q 1.000 205 0% 142 38.7% 5 20% possibly_damaging(0.833) deleterious(0) deleterious(0.762) NULL TRHDE 29953 genome.wustl.edu 37 12 72680629 72680629 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013381.2 +1 reviewed p.W316C 1.000 290 0% 177 20.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_M1,superfamily_SSF63737 BBS10 79738 genome.wustl.edu 37 12 76741019 76741019 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024685.3 -1 reviewed p.R249H 1.000 162 0% 108 35.2% 7 28.5% benign(0.293) tolerated(0.13) neutral(0.343) superfamily_GroEL-ATPase OSBPL8 114882 genome.wustl.edu 37 12 76749753 76749753 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020841.4 -1 reviewed p.T862 0.003 144 0% 87 27.6% 18 61.1% - - - NULL OSBPL8 114882 genome.wustl.edu 37 12 76769138 76769138 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020841.4 -1 reviewed p.G581V 1.000 207 0% 145 30.3% 16 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Oxysterol_BP ZDHHC17 23390 genome.wustl.edu 37 12 77244672 77244672 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015336.2 +1 validated p.C602 1.000 293 0% 185 26.5% 7 42.8% - - - NULL E2F7 144455 genome.wustl.edu 37 12 77417807 77417807 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_203394.2 -1 validated p.G908 0.000 240 0% 117 21.4% 8 75% - - - NULL NAV3 89795 genome.wustl.edu 37 12 78415621 78415621 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014903.4 +1 validated p.Q668* 1.000 400 0% 374 26.7% 0 - - - - NULL NAV3 89795 genome.wustl.edu 37 12 78444771 78444771 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014903.4 +1 validated p.R787Q 0.991 184 0% 85 32.9% 0 - possibly_damaging(0.827) deleterious(0.02) deleterious(0.697) NULL NAV3 89795 genome.wustl.edu 37 12 78552998 78552998 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014903.4 +1 validated p.A1601S 1.000 290 0% 231 25.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL OTOGL 283310 genome.wustl.edu 37 12 80735747 80735747 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000298820 +1 known p.R124Q 0.998 70 0% 64 10.9% 0 - - - - HMMPfam_VWD MYF6 4618 genome.wustl.edu 37 12 81102382 81102382 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002469.2 +1 reviewed p.T200M 0.393 67 0% 35 20% 0 - benign(0.117) deleterious(0.01) neutral(0.415) NULL MYF5 4617 genome.wustl.edu 37 12 81112748 81112748 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005593.2 +1 validated p.S229F 0.999 214 0% 116 29.3% 0 - probably_damaging(0.982) deleterious(0.03) deleterious(0.791) NULL LIN7A 8825 genome.wustl.edu 37 12 81205324 81205324 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004664.2 -1 validated p.R208C 1.000 65 0% 42 26.2% 7 28.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_PDZ domain-like LIN7A 8825 genome.wustl.edu 37 12 81205382 81205382 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004664.2 -1 validated p.Y188 1.000 122 0% 79 26.6% 9 33.3% - - - HMMSmart_SM00228,superfamily_PDZ domain-like ACSS3 79611 genome.wustl.edu 37 12 81532944 81532944 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024560.2 +1 validated p.E227G 1.000 290 0% 176 29% 3 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like PPFIA2 8499 genome.wustl.edu 37 12 81732958 81732958 + Splice_Site SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003625.2 -1 reviewed e19+1 1.000 370 0.3% 342 29.2% 0 - - - - - PPFIA2 8499 genome.wustl.edu 37 12 81769671 81769671 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003625.2 -1 reviewed p.K345 1.000 218 0% 192 20.3% 0 - - - - NULL SLC6A15 55117 genome.wustl.edu 37 12 85277570 85277570 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018057.5 -1 validated p.S275F 0.000 159 0% 110 31.8% 1 0% benign(0.009) deleterious(0) neutral(0.445) NULL SLC6A15 55117 genome.wustl.edu 37 12 85285758 85285758 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182767.4 -1 validated p.D48Y 1.000 478 0% 297 28.3% 0 - possibly_damaging(0.816) deleterious(0.02) deleterious(0.692) NULL TSPAN19 144448 genome.wustl.edu 37 12 85411252 85411252 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001100917.1 -1 validated p.N193D 1.000 79 0% 69 27.5% 0 - benign(0.101) tolerated(0.14) neutral(0.257) superfamily_Tetraspanin,HMMPfam_Tetraspannin LRRIQ1 84125 genome.wustl.edu 37 12 85449801 85449801 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001079910.1 +1 validated p.L410 0.000 405 0% 319 32.3% 0 - - - - superfamily_RNI-like LRRIQ1 84125 genome.wustl.edu 37 12 85450583 85450583 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001079910.1 +1 validated p.R671I 0.000 500 0.2% 323 28.2% 0 - benign(0.001) tolerated(0.08) neutral(0.300) superfamily_RNI-like LRRIQ1 84125 genome.wustl.edu 37 12 85521794 85521794 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001079910.1 +1 validated p.A1398T 1.000 258 0% 133 27.1% 0 - possibly_damaging(0.901) deleterious(0) deleterious(0.801) HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases ALX1 8092 genome.wustl.edu 37 12 85674246 85674246 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006982.2 +1 reviewed p.S69 0.996 26 0% 11 36.4% 0 - - - - NULL MGAT4C 25834 genome.wustl.edu 37 12 86373386 86373386 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013244.3 -1 validated p.P373H 1.000 71 0% 48 33.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CEP290 80184 genome.wustl.edu 37 12 88477655 88477655 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025114.3 -1 reviewed p.S1594I 1.000 61 0% 35 40% 9 55.5% benign(0.054) tolerated(0.14) neutral(0.253) NULL ATP2B1 490 genome.wustl.edu 37 12 90021464 90021464 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001682.2 -1 reviewed p.R320C 1.000 263 0% 184 22.8% 20 20% benign(0.015) deleterious(0.02) neutral(0.384) HMMPfam_E1-E2_ATPase,superfamily_SSF81665 PLXNC1 10154 genome.wustl.edu 37 12 94654592 94654592 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005761.1 +1 provisional p.S1142 0.067 140 0% 69 29% 2 0% - - - superfamily_Rho_GAP,HMMPfam_Plexin_cytopl TMCC3 57458 genome.wustl.edu 37 12 94976014 94976014 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020698.2 -1 validated p.A127T 0.987 225 0% 131 11.5% 1 0% possibly_damaging(0.577) tolerated(0.2) neutral(0.247) HMMPfam_Tmemb_cc2 TMCC3 57458 genome.wustl.edu 37 12 94976070 94976070 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020698.2 -1 validated p.A108V 0.993 202 0% 141 27% 0 - benign(0.084) tolerated(0.55) neutral(0.013) HMMPfam_Tmemb_cc2 FGD6 55785 genome.wustl.edu 37 12 95602881 95602881 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018351.3 -1 validated p.L727I 0.928 264 0% 190 31.1% 1 100% possibly_damaging(0.717) deleterious(0) deleterious(0.704) NULL METAP2 10988 genome.wustl.edu 37 12 95889828 95889828 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006838.3 +1 reviewed p.D274G 1.000 714 0% 491 27.5% 84 35.7% possibly_damaging(0.952) deleterious(0) deleterious(0.840) HMMPfam_Peptidase_M24,superfamily_Creatinase/aminopeptidase USP44 84101 genome.wustl.edu 37 12 95926990 95926990 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001042403.1 -1 validated p.R348I 0.988 379 0% 207 10.6% 0 - benign(0.394) deleterious(0.04) deleterious(0.475) HMMPfam_UCH,superfamily_Cysteine proteinases USP44 84101 genome.wustl.edu 37 12 95927102 95927102 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001042403.1 -1 validated p.A311T 1.000 234 0.9% 205 32.2% 0 - benign(0.371) tolerated(0.53) neutral(0.126) HMMPfam_UCH,superfamily_Cysteine proteinases HAL 3034 genome.wustl.edu 37 12 96384172 96384172 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002108.2 -1 reviewed p.Y285C 1.000 323 0% 184 13% 0 - benign(0.198) deleterious(0.01) neutral(0.425) HMMPfam_PAL,superfamily_L-Aspartase-like C12orf63 374467 genome.wustl.edu 37 12 97087499 97087499 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198520.2 +1 validated e11-1 0.993 323 0% 293 10.9% 0 - - - - - NEDD1 121441 genome.wustl.edu 37 12 97328883 97328883 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001135175.1 +1 validated p.A214S 1.000 462 0% 306 10.5% 16 18.7% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00320,superfamily_WD40 repeat-like NEDD1 121441 genome.wustl.edu 37 12 97345270 97345270 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001135175.1 +1 validated p.M631I 1.000 193 0% 160 28.1% 13 46.1% benign(0) tolerated(1) - NULL SLC25A3 5250 genome.wustl.edu 37 12 98995045 98995045 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005888.3 +1 reviewed p.R305I 1.000 177 0% 78 12.8% 786 18.7% possibly_damaging(0.815) tolerated(0.05) deleterious(0.653) superfamily_Mitochondrial carrier,HMMPfam_Mito_carr APAF1 317 genome.wustl.edu 37 12 99074073 99074073 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181861.1 +1 reviewed p.G647* 1.000 79 0% 63 27% 3 33.3% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 ANKS1B 56899 genome.wustl.edu 37 12 99201671 99201671 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181670.2 -1 validated p.T256M 1.000 144 0% 89 27% 0 - benign(0.021) tolerated(0.08) neutral(0.301) NULL UHRF1BP1L 23074 genome.wustl.edu 37 12 100478260 100478260 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015054.1 -1 validated p.Q428* 1.000 385 0% 221 25.3% 15 13.3% - - - NULL GOLGA2P5 55592 genome.wustl.edu 37 12 100561181 100561181 + RNA SNP G G A rs138181889 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NR_024261.1 -1 validated NULL 0.157 33 0% 17 35.3% 2 100% - - - - GOLGA2P5 55592 genome.wustl.edu 37 12 100562921 100562923 + RNA DEL TTT TTT - novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NR_024261.1 -1 validated NULL 0.000:0.000:0.000 - - - - - - - - - - DEPDC4 120863 genome.wustl.edu 37 12 100656106 100656106 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152317.2 -1 provisional p.N212K 0.026 307 0% 180 25.6% 2 100% benign(0.016) tolerated(0.43) neutral(0.014) NULL SLC17A8 246213 genome.wustl.edu 37 12 100797922 100797922 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_139319.2 +1 reviewed p.A387D 1.000 179 0% 129 38% 0 - probably_damaging(0.996) tolerated(0.53) deleterious(0.469) HMMPfam_MFS_1,superfamily_MFS general substrate transporter GAS2L3 283431 genome.wustl.edu 37 12 100994191 100994191 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_174942.1 +1 provisional p.P17H 1.000 413 0% 272 25% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GAS2L3 283431 genome.wustl.edu 37 12 100995514 100995514 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_174942.1 +1 provisional p.N96D 0.008 531 0% 368 23.4% 5 60% benign(0) tolerated(0.65) neutral(0.003) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain SLC5A8 160728 genome.wustl.edu 37 12 101587545 101587545 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145913.3 -1 validated p.A184S 1.000 287 0% 205 32.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SSF MYBPC1 4604 genome.wustl.edu 37 12 102025861 102025861 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002465.2 +1 validated p.C167 0.874 134 0% 67 28.4% 0 - - - - HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin MYBPC1 4604 genome.wustl.edu 37 12 102061589 102061589 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002465.2 +1 validated p.K812N 1.000 146 0% 87 32.2% 0 - benign(0.007) tolerated(0.29) neutral(0.029) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III DRAM1 55332 genome.wustl.edu 37 12 102314996 102314996 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018370.2 +1 reviewed p.S225 0.923 352 0.3% 238 29.8% 16 37.5% - - - HMMPfam_Frag1 ASCL1 429 genome.wustl.edu 37 12 103352411 103352411 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004316.3 +1 reviewed p.R130H 1.000 38 0.000 9 0.444 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain STAB2 55576 genome.wustl.edu 37 12 104083652 104083652 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017564.9 +1 reviewed p.A1025V 0.000 168 0% 102 29.4% 0 - benign(0.061) tolerated(0.06) neutral(0.327) HMMPfam_Fasciclin,superfamily_BIgH3_FAS1 TDG 6996 genome.wustl.edu 37 12 104380859 104380859 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003211.4 +1 reviewed p.S408 0.008 356 0.3% 188 19.7% 31 41.9% - - - NULL NFYB 4801 genome.wustl.edu 37 12 104517081 104517081 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006166.3 -1 reviewed p.I118V 1.000 155 0% 106 25.5% 44 31.8% benign(0.093) tolerated(0.19) neutral(0.057) HMMPfam_CBFD_NFYB_HMF,superfamily_Histone-fold EID3 493861 genome.wustl.edu 37 12 104697980 104697980 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001008394.1 +1 provisional p.A90T 0.859 164 0% 90 28.9% 0 - benign(0.284) deleterious(0.02) deleterious(0.470) HMMPfam_Nse4 TXNRD1 7296 genome.wustl.edu 37 12 104713303 104713303 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000429002 +1 known p.A314V 1.000 57 0% 36 22.2% 50 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Pyr_redox_2,superfamily_FAD/NAD(P)-binding domain TXNRD1 7296 genome.wustl.edu 37 12 104715027 104715027 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000429002 +1 known p.A387V 1.000 351 0% 203 12.3% 38 31.5% probably_damaging(0.96) tolerated(0.08) deleterious(0.703) HMMPfam_Pyr_redox_2,superfamily_FAD/NAD(P)-binding domain CHST11 50515 genome.wustl.edu 37 12 105150997 105150997 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018413.5 +1 validated p.A159T 0.968 179 0% 84 26.2% 15 0% benign(0) tolerated(0.45) neutral(0.012) HMMPfam_Sulfotransfer_2 ENSG00000179821 0 genome.wustl.edu 37 12 105370934 105370934 + Silent SNP C C T rs138008541 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000312876 -1 known p.T285 0.943 24 0% 13 46.2% 0 - - - - HMMPfam_Filament ENSG00000179821 0 genome.wustl.edu 37 12 105371021 105371021 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000312876 -1 known p.E256D 0.946 32 0% 22 18.2% 0 - - - - HMMPfam_Filament ALDH1L2 160428 genome.wustl.edu 37 12 105433542 105433542 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001034173.3 -1 reviewed p.R665H 1.000 234 0% 159 20.8% 2 0% probably_damaging(0.965) deleterious(0.04) deleterious(0.756) HMMPfam_Aldedh,superfamily_ALDH-like KIAA1033 23325 genome.wustl.edu 37 12 105550510 105550510 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015275.1 +1 validated p.A922D 1.000 275 0% 200 34% 18 27.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL APPL2 55198 genome.wustl.edu 37 12 105570725 105570725 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018171.3 -1 validated p.R581C 0.188 370 0% 229 34.1% 24 66.6% benign(0.352) deleterious(0) deleterious(0.556) HMMPfam_PID,superfamily_SSF50729 APPL2 55198 genome.wustl.edu 37 12 105589095 105589095 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018171.3 -1 validated p.L395 0.011 101 0% 64 31.2% 38 50% - - - NULL LOC341378 341378 genome.wustl.edu 37 12 106565222 106565222 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_001715424.1 +1 model p.V22 0.081 222 0% 165 31.5% 0 - - - - NULL CKAP4 10970 genome.wustl.edu 37 12 106633075 106633075 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006825.3 -1 validated p.T512 0.040 105 1% 84 35.7% 154 39.6% - - - NULL CKAP4 10970 genome.wustl.edu 37 12 106633236 106633236 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006825.3 -1 validated p.G459R 0.180 64 0% 37 24.3% 124 54% probably_damaging(0.99) tolerated(0.58) neutral(0.447) NULL CKAP4 10970 genome.wustl.edu 37 12 106633639 106633639 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006825.3 -1 validated p.E324D 0.996 97 0% 54 27.8% 153 46.4% probably_damaging(0.998) tolerated(0.35) deleterious(0.495) NULL TCP11L2 255394 genome.wustl.edu 37 12 106708223 106708223 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152772.1 +1 provisional p.A82D 1.000 169 0% 96 25% 3 33.3% possibly_damaging(0.95) tolerated(0.06) deleterious(0.716) HMMPfam_Tcp11 TCP11L2 255394 genome.wustl.edu 37 12 106717316 106717316 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152772.1 +1 provisional p.Q222* 0.999 129 0% 65 38.5% 2 0% - - - HMMPfam_Tcp11 TCP11L2 255394 genome.wustl.edu 37 12 106717368 106717368 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152772.1 +1 provisional p.R239H 1.000 171 0% 100 27% 3 100% benign(0.004) tolerated(0.15) neutral(0.241) HMMPfam_Tcp11 TCP11L2 255394 genome.wustl.edu 37 12 106734621 106734621 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152772.1 +1 provisional p.E387G 1.000 251 0% 150 32% 6 16.6% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_Tcp11 POLR3B 55703 genome.wustl.edu 37 12 106821137 106821137 + Splice_Site SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018082.5 +1 validated e13+1 0.999 350 0% 294 23.5% 0 - - - - - RIC8B 55188 genome.wustl.edu 37 12 107236492 107236492 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018157.2 +1 validated p.A321V 0.966 355 0% 207 27.1% 9 33.3% benign(0.013) tolerated(1) neutral(0.001) superfamily_ARM-type_fold,HMMPfam_Ric8 CRY1 1407 genome.wustl.edu 37 12 107393495 107393495 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004075.3 -1 validated p.P324H 1.000 134 0% 84 29.8% 23 52.1% possibly_damaging(0.596) deleterious(0.04) deleterious(0.555) HMMPfam_FAD_binding_7,superfamily_Cryptochrome/photolyase FAD-binding domain BTBD11 121551 genome.wustl.edu 37 12 108006600 108006600 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001018072.1 +1 validated p.A618V 1.000 23 0% 18 22.2% 0 - probably_damaging(1) tolerated(0.23) deleterious(0.541) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat PRDM4 11108 genome.wustl.edu 37 12 108134871 108134871 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012406.3 -1 reviewed p.C592* 1.000 587 0.2% 361 27.7% 13 15.3% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 PRDM4 11108 genome.wustl.edu 37 12 108145414 108145414 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012406.3 -1 reviewed p.A302S 1.000 112 0% 62 14.5% 28 10.7% possibly_damaging(0.811) deleterious(0.02) deleterious(0.689) NULL PRDM4 11108 genome.wustl.edu 37 12 108147763 108147763 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012406.3 -1 reviewed p.Y90C 1.000 144 0% 89 20.2% 10 60% probably_damaging(0.97) deleterious(0) deleterious(0.857) NULL SART3 9733 genome.wustl.edu 37 12 108929177 108929177 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014706.3 -1 reviewed p.A505V 1.000 394 0% 223 31.8% 42 47.6% possibly_damaging(0.446) tolerated(0.06) deleterious(0.469) HMMSmart_SM00386,superfamily_TPR-like CORO1C 23603 genome.wustl.edu 37 12 109042548 109042548 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014325.2 -1 reviewed p.G380C 1.000 142 0% 77 24.7% 75 34.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF1900 SSH1 54434 genome.wustl.edu 37 12 109198899 109198899 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018984.3 -1 validated p.D296G 1.000 149 0% 76 25% 8 12.5% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_DEK_C,superfamily_DEK C-terminal domain SSH1 54434 genome.wustl.edu 37 12 109217102 109217102 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018984.3 -1 validated p.A49V 1.000 17 0.000 9 0.444 6 33.3% possibly_damaging(0.906) tolerated(0.09) deleterious(0.656) NULL SVOP 55530 genome.wustl.edu 37 12 109313533 109313533 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018711.2 -1 validated p.P335L 1.000 44 0% 28 25% 0 - probably_damaging(0.995) tolerated(0.17) deleterious(0.516) NULL USP30 84749 genome.wustl.edu 37 12 109522831 109522831 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032663.3 +1 validated p.T414 0.009 598 0% 291 31.3% 16 43.7% - - - HMMPfam_UCH,superfamily_SSF54001 ACACB 32 genome.wustl.edu 37 12 109684135 109684135 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001093.3 +1 reviewed p.R1818Q 1.000 144 0% 65 27.7% 1 100% probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMPfam_Carboxyl_trans,superfamily_ClpP/crotonase KCTD10 83892 genome.wustl.edu 37 12 109898568 109898568 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031954.3 -1 provisional p.I87T 1.000 189 0% 93 31.2% 31 35.4% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain UBE3B 89910 genome.wustl.edu 37 12 109921751 109921751 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_130466.2 +1 reviewed p.L83 1.000 255 0% 127 23.6% 13 61.5% - - - NULL UBE3B 89910 genome.wustl.edu 37 12 109926417 109926417 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_130466.2 +1 reviewed p.L163P 1.000 758 0% 458 15.9% 9 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL UBE3B 89910 genome.wustl.edu 37 12 109928915 109928915 + Silent SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_130466.2 +1 reviewed p.A232 0.815 175 0% 128 18.8% 15 26.6% - - - NULL MVK 4598 genome.wustl.edu 37 12 110013833 110013833 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000431.2 +1 reviewed p.T37A 1.000 86 0% 58 24.1% 20 45% possibly_damaging(0.94) tolerated(0.09) deleterious(0.681) superfamily_Ribosomal protein S5 domain 2-like MVK 4598 genome.wustl.edu 37 12 110013888 110013888 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000431.2 +1 reviewed p.N55T 1.000 65 0% 46 23.9% 22 36.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Ribosomal protein S5 domain 2-like TRPV4 59341 genome.wustl.edu 37 12 110226377 110226377 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021625.4 -1 reviewed p.G679D 1.000 101 1% 47 27.7% 3 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Ion_trans GIT2 9815 genome.wustl.edu 37 12 110429535 110429535 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_057169.3 -1 reviewed p.T28M 0.947 97 0% 54 20.4% 6 50% possibly_damaging(0.579) deleterious(0.01) deleterious(0.605) HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_Pyk2-associated protein beta ARF-GAP domain ARPC3 10094 genome.wustl.edu 37 12 110874944 110874944 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005719.2 -1 reviewed p.R66M 1.000 174 0% 104 21.2% 457 50.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_P21-Arc,superfamily_Arp2/3 complex 21 kDa subunit ARPC3 RAD9B 144715 genome.wustl.edu 37 12 110943551 110943551 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152442.3 +1 validated p.H83Y 0.000 55 0% 43 39.5% 0 - benign(0.173) deleterious(0.02) neutral(0.399) HMMPfam_Rad9,superfamily_DNA clamp PPP1CC 5501 genome.wustl.edu 37 12 111169650 111169650 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002710.2 -1 validated p.L38M 0.999 195 0.5% 92 13% 117 17.9% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMSmart_SM00156,superfamily_Metallo-dependent phosphatases CCDC63 160762 genome.wustl.edu 37 12 111336915 111336915 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152591.1 +1 provisional p.L443P 0.885 145 0% 86 31.4% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ALDH2 217 genome.wustl.edu 37 12 112235947 112235947 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000690.2 +1 reviewed p.K383N 0.999 42 0% 16 25% 34 20.5% benign(0.111) tolerated(0.11) neutral(0.280) HMMPfam_Aldedh,superfamily_Aldehyde_DH/Histidinol_DH NAA25 80018 genome.wustl.edu 37 12 112516537 112516537 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024953.3 -1 reviewed p.S162 0.160 232 0% 121 31.4% 9 44.4% - - - superfamily_TPR-like PTPN11 5781 genome.wustl.edu 37 12 112919935 112919935 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002834.3 +1 reviewed p.R384C 1.000 148 0% 108 27.8% 11 72.7% benign(0.01) tolerated(0.08) neutral(0.300) HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II OAS2 4939 genome.wustl.edu 37 12 113435478 113435478 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016817.2 +1 reviewed p.L261M 0.163 293 0.3% 175 24.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_OAS1_C,superfamily_PAP/OAS1 substrate-binding domain IQCD 115811 genome.wustl.edu 37 12 113633535 113633535 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138451.1 -1 provisional p.R297C 1.000 156 0% 78 41% 6 66.6% probably_damaging(0.99) deleterious(0.02) deleterious(0.825) HMMSmart_IQ TPCN1 53373 genome.wustl.edu 37 12 113711423 113711423 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001143819.1 +1 validated p.V370I 0.996 139 0% 60 30% 8 25% benign(0.094) tolerated(0.96) neutral(0.007) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels SDSL 113675 genome.wustl.edu 37 12 113873154 113873154 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138432.2 +1 provisional p.V155A 0.858 32 0% 16 25% 13 23% possibly_damaging(0.919) deleterious(0) deleterious(0.814) HMMPfam_PALP,superfamily_PyrdxlP-dep_enz_bsu TBX5 6910 genome.wustl.edu 37 12 114793599 114793599 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000192.3 -1 reviewed p.S432L 1.000 56 0% 29 34.5% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL LOC652191 652191 genome.wustl.edu 37 12 114987416 114987416 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_001716366.2 +1 model p.P23L 1.000 159 0% 91 27.5% 0 - - - - HMMPfam_MAP1_LC3,superfamily_Ubiquitin-like MED13L 23389 genome.wustl.edu 37 12 116409904 116409904 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015335.3 -1 validated p.G1957W 1.000 168 0% 89 28.1% 29 48.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MED13L 23389 genome.wustl.edu 37 12 116457158 116457158 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015335.3 -1 validated p.V294I 0.942 266 0.4% 232 34.1% 15 60% benign(0.073) tolerated(0.45) neutral(0.017) NULL C12orf49 79794 genome.wustl.edu 37 12 117161021 117161021 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024738.1 -1 predicted p.R40M 1.000 131 0% 67 22.4% 17 52.9% probably_damaging(0.982) deleterious(0.04) deleterious(0.775) NULL RNFT2 84900 genome.wustl.edu 37 12 117271736 117271736 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001109903.1 +1 validated p.S341I 1.000 36 0% 25 28% 0 - probably_damaging(0.998) tolerated(0.53) deleterious(0.482) NULL FBXW8 26259 genome.wustl.edu 37 12 117423181 117423181 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153348.2 +1 reviewed p.A336S 0.000 199 0% 99 10.1% 2 0% benign(0.028) tolerated(0.58) neutral(0.007) superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase FBXW8 26259 genome.wustl.edu 37 12 117426552 117426552 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153348.2 +1 reviewed p.A373T 0.995 500 0% 267 29.2% 4 25% benign(0.118) tolerated(0.64) neutral(0.013) superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase NOS1 4842 genome.wustl.edu 37 12 117768619 117768619 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000620.2 -1 reviewed p.G86C 1.000 61 0% 32 25% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like RFC5 5985 genome.wustl.edu 37 12 118460143 118460143 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007370.4 +1 reviewed p.A134T 1.000 146 0% 71 16.9% 35 14.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_AAA,HMMPfam_AAA,superfamily_SSF52540 VSIG10 54621 genome.wustl.edu 37 12 118511525 118511525 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019086.5 -1 validated p.E400K 0.974 251 0% 185 25.4% 11 63.6% benign(0.174) tolerated(0.6) neutral(0.021) HMMSmart_SM00409,superfamily_Immunoglobulin VSIG10 54621 genome.wustl.edu 37 12 118533464 118533464 + Missense_Mutation SNP G G A rs142979297 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019086.5 -1 validated p.R79C 0.984 113 0% 70 32.9% 16 31.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin TAOK3 51347 genome.wustl.edu 37 12 118588930 118588930 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016281.3 -1 validated p.R857C 1.000 513 0% 255 15.3% 11 18.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CIT 11113 genome.wustl.edu 37 12 120135577 120135577 + Silent SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007174.1 -1 validated p.G1881 0.998 98 0% 37 24.3% 11 54.5% - - - HMMPfam_CNH,HMMSmart_SM00036 CIT 11113 genome.wustl.edu 37 12 120195287 120195287 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007174.1 -1 validated p.A823D 1.000 577 0.2% 288 14.6% 4 0% possibly_damaging(0.949) deleterious(0.01) deleterious(0.798) NULL GCN1L1 10985 genome.wustl.edu 37 12 120572130 120572130 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006836.1 -1 validated p.V2428I 0.999 83 1.2% 43 14% 105 14.2% benign(0.001) tolerated(0.4) neutral(0.016) HMMPfam_HEAT,superfamily_ARM repeat GCN1L1 10985 genome.wustl.edu 37 12 120572192 120572192 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006836.1 -1 validated p.A2407V 1.000 70 0% 32 40.6% 63 61.9% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_ARM repeat GCN1L1 10985 genome.wustl.edu 37 12 120608018 120608018 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006836.1 -1 validated p.A492T 1.000 307 0% 177 31.6% 23 39.1% probably_damaging(1) deleterious(0.03) deleterious(0.865) superfamily_ARM repeat RPLP0 6175 genome.wustl.edu 37 12 120635168 120635168 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001002.3 -1 reviewed p.A250V 1.000 83 0% 68 19.1% 5687 43.1% probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_Ribosomal_60s PXN 5829 genome.wustl.edu 37 12 120660719 120660719 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080855.1 -1 validated p.R147H 1.000 94 0% 30 30% 39 41% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Paxillin MLEC 9761 genome.wustl.edu 37 12 121131966 121131966 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014730.2 +1 validated p.R103Q 1.000 140 0% 113 31% 55 43.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ACADS 35 genome.wustl.edu 37 12 121176214 121176214 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000017.2 +1 reviewed p.S252 1.000 47 0% 28 39.3% 27 40.7% - - - superfamily_AcylCoA_dehyd_NM HNF1A 6927 genome.wustl.edu 37 12 121431360 121431360 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000545.5 +1 reviewed p.E188D 1.000 77 0% 48 35.4% 1 100% benign(0.036) tolerated(1) neutral(0.002) NULL HNF1A 6927 genome.wustl.edu 37 12 121432115 121432115 + Frame_Shift_Del DEL G G - novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000545.5 +1 reviewed p.P291fs 0.964 - - - - - - - - - HMMPfam_HNF-1B_C C12orf43 64897 genome.wustl.edu 37 12 121442255 121442255 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022895.1 -1 predicted p.A164T 1.000 32 0% 18 33.3% 11 18.1% possibly_damaging(0.645) deleterious(0) deleterious(0.670) NULL OASL 8638 genome.wustl.edu 37 12 121458577 121458577 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003733.2 -1 validated p.G444 0.001 296 0% 174 38.5% 2 0% - - - HMMPfam_ubiquitin,HMMSmart_SM00213,superfamily_Ubiquitin-like OASL 8638 genome.wustl.edu 37 12 121461876 121461876 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003733.2 -1 validated p.V322I 0.053 127 0.8% 52 15.4% 1 0% unknown(0) tolerated(0.08) - HMMPfam_OAS1_C,superfamily_PAP/OAS1 substrate-binding domain KDM2B 84678 genome.wustl.edu 37 12 121877822 121877822 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032590.4 -1 reviewed p.L1223M 0.992 45 0% 19 26.3% 24 37.5% probably_damaging(0.963) deleterious(0.01) deleterious(0.811) HMMSmart_SM00367,superfamily_RNI-like KDM2B 84678 genome.wustl.edu 37 12 121878755 121878755 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032590.4 -1 reviewed p.G1158 1.000 72 0% 44 22.7% 25 52% - - - HMMSmart_SM00367,superfamily_RNI-like KDM2B 84678 genome.wustl.edu 37 12 121970762 121970762 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032590.4 -1 reviewed p.R294* 1.000 60 0% 35 28.6% 9 11.1% - - - HMMSmart_SM00558,HMMPfam_JmjC,superfamily_Clavaminate synthase-like KDM2B 84678 genome.wustl.edu 37 12 122018753 122018753 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032590.4 -1 reviewed p.E22* 0.001 138 0% 64 12.5% 1 0% - - - NULL MORN3 283385 genome.wustl.edu 37 12 122091082 122091082 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173855.4 -1 validated p.L183 1.000 89 0% 50 24% 0 - - - - superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain WDR66 144406 genome.wustl.edu 37 12 122392060 122392060 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144668.4 +1 validated p.S452F 1.000 261 0% 168 28.6% 8 37.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00320,superfamily_WD40 repeat-like WDR66 144406 genome.wustl.edu 37 12 122395054 122395054 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144668.4 +1 validated p.S537I 1.000 348 0% 201 24.9% 3 66.6% probably_damaging(0.991) deleterious(0.03) deleterious(0.808) superfamily_WD40 repeat-like LRRC43 254050 genome.wustl.edu 37 12 122675929 122675929 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098519.1 +1 validated p.L302F 0.002 87 0% 58 37.9% 1 0% possibly_damaging(0.722) tolerated(0.06) deleterious(0.585) NULL B3GNT4 79369 genome.wustl.edu 37 12 122690867 122690867 + Silent SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030765.2 +1 reviewed p.G23 0.001 26 0% 20 60% 0 - - - - NULL B3GNT4 79369 genome.wustl.edu 37 12 122691546 122691546 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030765.2 +1 reviewed p.A250S 0.998 50 0% 27 18.5% 1 100% benign(0.149) tolerated(0.19) neutral(0.062) HMMPfam_Galactosyl_T B3GNT4 79369 genome.wustl.edu 37 12 122691608 122691608 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030765.2 +1 reviewed p.T270 0.943 79 0% 27 33.3% 4 50% - - - HMMPfam_Galactosyl_T CLIP1 6249 genome.wustl.edu 37 12 122758625 122758625 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002956.2 -1 validated p.A1340T 0.999 525 0% 328 29.3% 44 45.4% possibly_damaging(0.541) tolerated(0.06) deleterious(0.506) NULL CLIP1 6249 genome.wustl.edu 37 12 122794387 122794387 + Silent SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002956.2 -1 validated p.L1161 0.583 85 0% 48 41.7% 23 17.3% - - - NULL CLIP1 6249 genome.wustl.edu 37 12 122839712 122839712 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002956.2 -1 validated p.V385M 1.000 120 0% 58 37.9% 6 50% probably_damaging(0.994) deleterious(0.03) deleterious(0.817) NULL CLIP1 6249 genome.wustl.edu 37 12 122862059 122862059 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002956.2 -1 validated p.E178D 0.290 295 0% 189 34.4% 6 66.6% benign(0.001) tolerated(0.32) neutral(0.024) NULL ZCCHC8 55596 genome.wustl.edu 37 12 122964855 122964855 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017612.2 -1 validated p.G341D 0.020 72 0% 48 22.9% 24 41.6% benign(0) tolerated(0.87) neutral(0.001) NULL KNTC1 9735 genome.wustl.edu 37 12 123082292 123082292 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014708.4 +1 reviewed p.D1457G 1.000 135 0% 64 31.2% 6 50% possibly_damaging(0.905) tolerated(0.36) neutral(0.380) NULL KNTC1 9735 genome.wustl.edu 37 12 123095392 123095392 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014708.4 +1 reviewed p.R1856H 0.062 134 0% 76 19.7% 13 46.1% benign(0.017) tolerated(0.61) neutral(0.005) HMMPfam_Rod_C HCAR3 8843 genome.wustl.edu 37 12 123201196 123201196 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006018.2 -1 validated p.L30S 1.000 160 0% 74 25.7% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_Family A G protein-coupled receptor-like CCDC62 84660 genome.wustl.edu 37 12 123297826 123297826 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_201435.3 +1 validated p.V621M 0.002 335 0% 247 25.5% 0 - benign(0.156) tolerated(0.06) neutral(0.337) NULL OGFOD2 79676 genome.wustl.edu 37 12 123461417 123461417 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024623.1 +1 provisional e3-1 1.000 20 0% 14 35.7% 0 - - - - - PITPNM2 57605 genome.wustl.edu 37 12 123498510 123498510 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020845.2 -1 validated p.G53D 1.000 122 0% 65 26.2% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IP_trans,superfamily_Bet v1-like MPHOSPH9 10198 genome.wustl.edu 37 12 123641386 123641386 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022782.2 -1 validated p.F1022V 1.000 122 0% 59 27.1% 8 12.5% benign(0.119) tolerated(0.05) neutral(0.355) NULL MPHOSPH9 10198 genome.wustl.edu 37 12 123649924 123649924 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022782.2 -1 validated p.A746S 1.000 474 0.2% 284 27.1% 8 62.5% possibly_damaging(0.791) tolerated(0.06) deleterious(0.619) NULL SBNO1 55206 genome.wustl.edu 37 12 123780598 123780598 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018183.3 -1 validated e31-1 1.000 285 0% 153 29.4% 5 100% - - - - SBNO1 55206 genome.wustl.edu 37 12 123782665 123782665 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018183.3 -1 validated p.R1299H 1.000 178 0% 103 29.1% 68 51.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SETD8 387893 genome.wustl.edu 37 12 123889511 123889511 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020382.3 +1 validated p.H246 0.989 134 0% 69 34.8% 65 60% - - - HMMPfam_SET,HMMSmart_SET,superfamily_SSF82199 SETD8 387893 genome.wustl.edu 37 12 123892172 123892172 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020382.3 +1 validated p.A327 0.925 106 0% 56 26.8% 50 50% - - - HMMPfam_SET,HMMSmart_SET,superfamily_SSF82199 DDX55 57696 genome.wustl.edu 37 12 124094578 124094578 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020936.1 +1 reviewed p.A215V 1.000 105 0% 49 26.5% 12 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases ATP6V0A2 23545 genome.wustl.edu 37 12 124203214 124203214 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012463.3 +1 reviewed p.E54D 1.000 195 0% 104 21.2% 9 44.4% benign(0.058) deleterious(0) neutral(0.448) HMMPfam_V_ATPase_I DNAH10 196385 genome.wustl.edu 37 12 124274539 124274539 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207437.3 +1 validated p.R501 0.414 436 0% 238 23.9% 0 - - - - HMMPfam_DHC_N1 DNAH10 196385 genome.wustl.edu 37 12 124283918 124283918 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207437.3 +1 validated p.K645N 1.000 114 0% 64 15.6% 0 - possibly_damaging(0.942) tolerated(0.34) neutral(0.410) HMMPfam_DHC_N1 DNAH10 196385 genome.wustl.edu 37 12 124293441 124293441 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207437.3 +1 validated p.T911A 0.085 1447 0.1% 872 26.5% 0 - benign(0) tolerated(0.59) neutral(0.004) NULL DNAH10 196385 genome.wustl.edu 37 12 124345600 124345600 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207437.3 +1 validated p.A2146V 1.000 230 0% 124 29% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases UBC 7316 genome.wustl.edu 37 12 125397930 125397930 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021009.4 -1 validated p.R130C 1.000 578 0.2% 319 11.9% 1643 7.9% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_ubiquitin,HMMSmart_SM00213,superfamily_Ubiquitin-like LOC100288312 100288312 genome.wustl.edu 37 12 125398213 125398213 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002343222.1 +1 model p.A699S 1.000 535 0% 276 24.6% 1011 36.6% - - - NULL TMEM132B 114795 genome.wustl.edu 37 12 126136990 126136990 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052907.2 +1 provisional p.L635I 0.996 102 0% 46 15.2% 0 - possibly_damaging(0.703) tolerated(0.16) neutral(0.312) NULL SLC15A4 121260 genome.wustl.edu 37 12 129285489 129285489 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145648.3 -1 validated p.V442I 0.523 91 0% 34 23.5% 44 47.7% benign(0.042) tolerated(0.2) neutral(0.052) HMMPfam_PTR2,superfamily_MFS general substrate transporter SLC15A4 121260 genome.wustl.edu 37 12 129299333 129299333 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145648.3 -1 validated p.R277C 0.000 225 0% 115 31.3% 41 51.2% possibly_damaging(0.795) deleterious(0) deleterious(0.743) HMMPfam_PTR2,superfamily_MFS general substrate transporter SLC15A4 121260 genome.wustl.edu 37 12 129299549 129299549 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145648.3 -1 validated p.G205R 1.000 520 0% 244 11.5% 28 21.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PTR2,superfamily_MFS general substrate transporter,PatternScan_PTR2_2 GLT1D1 144423 genome.wustl.edu 37 12 129429907 129429907 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144669.1 +1 provisional p.V138L 0.296 60 0% 35 14.3% 0 - possibly_damaging(0.666) tolerated(0.56) neutral(0.242) superfamily_SSF53756 TMEM132D 121256 genome.wustl.edu 37 12 129558548 129558548 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133448.2 -1 validated p.E1058K 0.000 391 0% 158 30.4% 0 - benign(0.025) tolerated(0.88) neutral(0.001) NULL FZD10 11211 genome.wustl.edu 37 12 130648301 130648301 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007197.2 +1 reviewed p.V272I 1.000 38 0% 11 45.5% 27 18.5% unknown(0) - - HMMPfam_Frizzled PIWIL1 9271 genome.wustl.edu 37 12 130831129 130831129 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004764.3 +1 reviewed p.K177N 1.000 168 0% 97 10.3% 0 - probably_damaging(0.991) tolerated(0.08) deleterious(0.744) superfamily_PAZ domain GPR133 283383 genome.wustl.edu 37 12 131476836 131476836 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198827.3 +1 validated p.T289A 0.000 268 0% 151 18.5% 1 0% benign(0) tolerated(0.13) neutral(0.253) NULL GPR133 283383 genome.wustl.edu 37 12 131561403 131561403 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198827.3 +1 validated p.A511T 1.000 338 0% 145 27.6% 0 - probably_damaging(0.981) tolerated(0.14) deleterious(0.675) HMMPfam_GPS,HMMSmart_SM00303 SFSWAP 6433 genome.wustl.edu 37 12 132237728 132237728 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004592.2 +1 reviewed p.A381V 0.999 212 0.5% 106 18.9% 26 34.6% probably_damaging(0.999) tolerated(0.09) deleterious(0.787) NULL SFSWAP 6433 genome.wustl.edu 37 12 132262653 132262653 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004592.2 +1 reviewed p.P729H 0.516 145 0% 70 37.1% 32 31.2% unknown(0) tolerated(0.06) - NULL PUS1 80324 genome.wustl.edu 37 12 132426055 132426055 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025215.5 +1 reviewed p.Q255* 0.000 37 0% 26 19.2% 42 14.2% - - - HMMPfam_PseudoU_synth_1,superfamily_Pseudouridine synthase EP400 57634 genome.wustl.edu 37 12 132471081 132471081 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015409.3 +1 validated p.P650H 0.010 79 0% 47 25.5% 6 66.6% unknown(0) - - NULL EP400 57634 genome.wustl.edu 37 12 132474528 132474528 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015409.3 +1 validated p.R809H 1.000 94 1.1% 58 20.7% 3 66.6% unknown(0) - - HMMPfam_HSA,HMMSmart_HSA EP400 57634 genome.wustl.edu 37 12 132475981 132475981 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015409.3 +1 validated p.A886T 0.000 239 0% 99 25.3% 5 80% unknown(0) - - NULL EP400 57634 genome.wustl.edu 37 12 132510208 132510208 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015409.3 +1 validated p.V1624M 1.000 29 0% 20 35% 6 16.6% unknown(0) - - NULL SNORA49 677829 genome.wustl.edu 37 12 132515867 132515867 + RNA SNP G G A rs188280770 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NR_002979.2 +1 validated NULL 0.000 243 0% 115 28.7% 0 - - - - - EP400 57634 genome.wustl.edu 37 12 132530330 132530330 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015409.3 +1 validated p.T2361I 1.000 58 0% 36 25% 12 66.6% unknown(0) - - superfamily_Homeodomain_like EP400 57634 genome.wustl.edu 37 12 132551360 132551360 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015409.3 +1 validated p.M2864I 1.000 133 0% 53 26.4% 23 47.8% benign(0.026) - - NULL DDX51 317781 genome.wustl.edu 37 12 132627294 132627294 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175066.3 -1 validated p.G217C 0.994 18 0% 16 43.8% 15 26.6% probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMSmart_DEXDc,superfamily_SSF52540 POLE 5426 genome.wustl.edu 37 12 133208982 133208982 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006231.2 -1 validated p.L2083 1.000 224 0% 111 25.2% 18 22.2% - - - NULL POLE 5426 genome.wustl.edu 37 12 133220438 133220438 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006231.2 -1 validated p.G1425 0.455 59 0% 28 25% 16 62.5% - - - NULL POLE 5426 genome.wustl.edu 37 12 133250250 133250250 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006231.2 -1 validated p.L424I 1.000 495 0.2% 272 24.3% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DNA_pol_B_exo,HMMSmart_POLBc,superfamily_RNaseH_fold ZNF605 100289635 genome.wustl.edu 37 12 133502450 133502450 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000360187 -1 known p.C479R 0.978 194 0% 111 23.4% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF140 7699 genome.wustl.edu 37 12 133683213 133683213 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003440.2 +1 validated p.H450Q 0.002 235 0% 146 15.1% 17 41.1% benign(0.001) tolerated(0.15) neutral(0.241) NULL ZNF10 7556 genome.wustl.edu 37 12 133732387 133732387 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015394.4 +1 reviewed p.F185 0.432 233 0% 134 14.9% 5 20% - - - NULL ZNF268 10795 genome.wustl.edu 37 12 133781028 133781028 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003415.2 +1 validated p.P919H 0.530 48 0% 32 31.2% 20 30% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_C2H2 and C2HC zinc fingers MPHOSPH8 54737 genome.wustl.edu 37 13 20221186 20221186 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017520.3 +1 validated p.D325N 0.070 297 0% 154 35.1% 34 35.2% possibly_damaging(0.527) tolerated(0.2) neutral(0.227) NULL MPHOSPH8 54737 genome.wustl.edu 37 13 20237220 20237220 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017520.3 +1 validated p.A658V 1.000 348 0% 179 20.1% 24 33.3% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat PSPC1 55269 genome.wustl.edu 37 13 20325441 20325441 + Missense_Mutation SNP G G C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001042414.1 -1 validated p.H313D 1.000 605 0% 406 29.1% 41 36.5% benign(0.253) deleterious(0.01) neutral(0.432) NULL IFT88 8100 genome.wustl.edu 37 13 21148614 21148614 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175605.3 +1 reviewed p.E39D 1.000 141 0% 80 23.7% 3 0% possibly_damaging(0.736) tolerated(0.48) neutral(0.280) NULL IFT88 8100 genome.wustl.edu 37 13 21219086 21219086 + Silent SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175605.3 +1 reviewed p.A655 0.996 264 0% 184 29.9% 11 81.8% - - - HMMSmart_SM00028,superfamily_TPR-like IFT88 8100 genome.wustl.edu 37 13 21237729 21237729 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175605.3 +1 reviewed p.E730* 1.000 224 0% 134 35.1% 9 0% - - - NULL XPO4 64328 genome.wustl.edu 37 13 21364662 21364662 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022459.4 -1 validated p.A952V 1.000 191 0% 116 28.4% 13 53.8% benign(0.173) deleterious(0.04) neutral(0.365) superfamily_ARM-type_fold SAP18 10284 genome.wustl.edu 37 13 21721012 21721012 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005870.4 +1 reviewed p.G103D 1.000 306 0.3% 215 27.4% 341 40.7% probably_damaging(0.959) tolerated(0.13) deleterious(0.655) HMMPfam_SAP18 SKA3 221150 genome.wustl.edu 37 13 21746496 21746496 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000314759 -1 known p.R105C 0.106 204 0% 129 34.1% 8 12.5% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL EFHA1 221154 genome.wustl.edu 37 13 22067418 22067418 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152726.2 -1 validated p.V425 1.000 303 0% 197 28.4% 32 25% - - - NULL SACS 26278 genome.wustl.edu 37 13 23909101 23909101 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014363.4 -1 reviewed p.P2972S 1.000 184 0% 113 33.6% 1 0% possibly_damaging(0.794) tolerated(0.46) neutral(0.310) NULL SACS 26278 genome.wustl.edu 37 13 23929682 23929682 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014363.4 -1 reviewed p.S357C 0.424 225 0% 149 12.1% 2 50% possibly_damaging(0.872) deleterious(0.04) deleterious(0.688) NULL TNFRSF19 55504 genome.wustl.edu 37 13 24242995 24242995 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018647.2 +1 reviewed p.H335R 0.000 371 0.3% 223 27.8% 22 36.3% benign(0.001) tolerated(0.13) neutral(0.253) NULL MIPEP 4285 genome.wustl.edu 37 13 24449041 24449041 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005932.2 -1 reviewed p.A183T 1.000 471 0.2% 309 14.6% 17 23.5% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_SSF55486 RNF17 56163 genome.wustl.edu 37 13 25363557 25363557 + Silent SNP T T C rs34345738 TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031277.2 +1 reviewed p.P285 0.998 736 0% 587 31.7% 0 - - - - NULL RNF17 56163 genome.wustl.edu 37 13 25376659 25376659 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031277.2 +1 reviewed p.S633 1.000 545 0.4% 346 27.2% 0 - - - - NULL RNF17 56163 genome.wustl.edu 37 13 25428216 25428216 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031277.2 +1 reviewed p.V1182I 0.963 212 0% 137 30.7% 0 - benign(0) tolerated(0.45) neutral(0.012) HMMPfam_TUDOR RNF17 56163 genome.wustl.edu 37 13 25433283 25433283 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031277.2 +1 reviewed p.V1252D 0.990 79 0% 49 26.5% 0 - probably_damaging(0.99) tolerated(0.08) deleterious(0.742) HMMSmart_SM00333,HMMPfam_TUDOR,superfamily_Tudor/PWWP/MBT RNF17 56163 genome.wustl.edu 37 13 25442793 25442793 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031277.2 +1 reviewed p.S1406Y 0.264 371 0% 242 29.8% 0 - possibly_damaging(0.929) tolerated(0.9) neutral(0.376) NULL CENPJ 55835 genome.wustl.edu 37 13 25458137 25458137 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018451.3 -1 reviewed p.S1263I 1.000 244 0.4% 129 31.8% 11 9% probably_damaging(0.991) tolerated(0.06) deleterious(0.766) HMMPfam_Tcp10_C CENPJ 55835 genome.wustl.edu 37 13 25480746 25480746 + Missense_Mutation SNP G G A rs193181742 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018451.3 -1 reviewed p.T477M 0.000 441 0% 247 36.4% 5 0% possibly_damaging(0.939) deleterious(0.04) deleterious(0.734) NULL FAM123A 219287 genome.wustl.edu 37 13 25744541 25744541 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152704.2 -1 validated p.P406L 0.405 65 0% 32 28.1% 0 - benign(0.002) tolerated(0.17) neutral(0.059) HMMPfam_WTX NUPL1 9818 genome.wustl.edu 37 13 25887131 25887131 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014089.3 +1 reviewed p.G133S 0.939 178 0% 142 33.8% 21 47.6% benign(0) tolerated(0.05) neutral(0.345) NULL NUPL1 9818 genome.wustl.edu 37 13 25912854 25912854 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014089.3 +1 reviewed p.G539* 1.000 271 0% 167 23.4% 28 35.7% - - - NULL ATP8A2 51761 genome.wustl.edu 37 13 26148972 26148972 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016529.4 +1 validated p.I563 1.000 233 0.4% 180 11.1% 0 - - - - superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N ATP8A2 51761 genome.wustl.edu 37 13 26153952 26153952 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016529.4 +1 validated p.R625Q 1.000 236 0% 148 31.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N ATP8A2 51761 genome.wustl.edu 37 13 26411366 26411366 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016529.4 +1 validated p.M940I 1.000 267 0% 154 14.9% 0 - benign(0.215) tolerated(0.14) neutral(0.271) NULL SHISA2 387914 genome.wustl.edu 37 13 26620949 26620949 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001007538.1 -1 provisional p.A197V 0.892 108 0% 44 27.3% 0 - benign(0.139) tolerated(0.82) neutral(0.013) NULL RNF6 6049 genome.wustl.edu 37 13 26789198 26789198 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005977.3 -1 reviewed p.R274Q 0.206 515 0% 277 22.7% 18 22.2% probably_damaging(0.999) tolerated(0.18) deleterious(0.546) NULL CDK8 1024 genome.wustl.edu 37 13 26927988 26927988 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001260.1 +1 reviewed p.H143Y 1.000 187 0% 122 10.7% 25 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase WASF3 10810 genome.wustl.edu 37 13 27216522 27216522 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006646.5 +1 reviewed p.R39C 1.000 453 0% 288 28.8% 10 40% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GTF3A 2971 genome.wustl.edu 37 13 28009054 28009054 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002097.2 +1 reviewed p.G252 1.000 544 0% 304 31.2% 266 40.9% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LNX2 222484 genome.wustl.edu 37 13 28127484 28127484 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153371.3 -1 validated p.A547T 0.292 200 0% 138 32.6% 10 70% benign(0) tolerated(0.55) neutral(0.007) HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ LNX2 222484 genome.wustl.edu 37 13 28136741 28136741 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153371.3 -1 validated p.R345W 1.000 180 0.6% 137 31.4% 9 33.3% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_PDZ,superfamily_PDZ LNX2 222484 genome.wustl.edu 37 13 28143366 28143366 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153371.3 -1 validated p.T152I 1.000 789 0% 576 26% 6 50% benign(0.017) tolerated(0.11) neutral(0.272) NULL PAN3 255967 genome.wustl.edu 37 13 28840856 28840856 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175854.7 +1 validated p.V272 0.671 452 0% 358 31.3% 17 70.5% - - - NULL FLT1 2321 genome.wustl.edu 37 13 28896431 28896431 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002019.4 -1 reviewed p.A1007T 1.000 277 0% 185 25.4% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) FLT1 2321 genome.wustl.edu 37 13 29008278 29008278 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002019.4 -1 reviewed p.T198M 0.997 239 0% 139 27.3% 6 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin MTUS2 23281 genome.wustl.edu 37 13 29600570 29600570 + Missense_Mutation SNP C C T rs149038100 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001033602.2 +1 validated p.R589C 0.000 327 0% 176 26.7% 0 - possibly_damaging(0.937) deleterious(0) deleterious(0.828) NULL C13orf33 84935 genome.wustl.edu 37 13 31495255 31495255 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032849.3 +1 validated p.R165W 0.999 119 0% 79 29.1% 2 0% probably_damaging(0.988) deleterious(0) deleterious(0.882) NULL FRY 10129 genome.wustl.edu 37 13 32653139 32653139 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_023037.2 +1 validated p.R80H 1.000 1069 0.1% 647 28.3% 1 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL FRY 10129 genome.wustl.edu 37 13 32785133 32785133 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_023037.2 +1 validated p.R1518H 1.000 164 0% 93 38.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FRY 10129 genome.wustl.edu 37 13 32835786 32835786 + Missense_Mutation SNP C C T rs186477124 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_023037.2 +1 validated p.R2484C 1.000 113 0.9% 73 31.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL BRCA2 675 genome.wustl.edu 37 13 32911691 32911691 + Missense_Mutation SNP A A G rs80359377 TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000059.3 +1 reviewed p.T1067A 0.000 155 0% 98 32.7% 0 - benign(0.046) tolerated(0.24) neutral(0.040) NULL BRCA2 675 genome.wustl.edu 37 13 32911724 32911724 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000059.3 +1 reviewed p.V1078I 0.035 159 0% 101 23.8% 0 - benign(0.231) deleterious(0.03) neutral(0.388) NULL BRCA2 675 genome.wustl.edu 37 13 32950813 32950813 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000059.3 +1 reviewed p.T2880I 0.000 65 0% 45 13.3% 1 0% benign(0.001) tolerated(0.22) neutral(0.042) superfamily_Nucleic_acid_OB,superfamily_SSF81878 N4BP2L1 90634 genome.wustl.edu 37 13 32977190 32977190 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052818.2 -1 validated p.N207 0.000 246 0% 155 28.4% 2 50% - - - NULL KL 9365 genome.wustl.edu 37 13 33629265 33629265 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004795.3 +1 reviewed p.S471I 1.000 314 0% 176 23.9% 0 - benign(0.208) deleterious(0.01) neutral(0.426) HMMPfam_Glyco_hydro_1,superfamily_(Trans)glycosidases STARD13 90627 genome.wustl.edu 37 13 33700237 33700237 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178006.3 -1 validated p.R688H 1.000 162 0% 81 34.6% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP NBEA 26960 genome.wustl.edu 37 13 36229805 36229805 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015678.4 +1 validated p.V2740M 1.000 146 0% 86 27.9% 2 50% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 DCLK1 9201 genome.wustl.edu 37 13 36410234 36410234 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004734.3 -1 validated p.R389* 0.983 532 0.4% 306 23.9% 0 - - - - superfamily_Kinase_like DCLK1 9201 genome.wustl.edu 37 13 36699935 36699935 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004734.3 -1 validated p.L114F 0.859 125 0% 54 27.8% 1 100% benign(0.008) tolerated(0.08) neutral(0.300) HMMPfam_DCX,HMMSmart_DCX,superfamily_SSF89837 DCLK1 9201 genome.wustl.edu 37 13 36699987 36699987 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004734.3 -1 validated p.S96 0.978 149 1.3% 72 34.7% 0 - - - - HMMPfam_DCX,HMMSmart_DCX,superfamily_SSF89837 SOHLH2 54937 genome.wustl.edu 37 13 36744813 36744813 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017826.2 -1 validated p.V371G 0.000 379 0% 235 31.1% 10 70% possibly_damaging(0.681) deleterious(0.03) deleterious(0.607) NULL SPG20 23111 genome.wustl.edu 37 13 36905640 36905640 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142294.1 -1 reviewed p.A302T 0.749 307 0% 219 32% 51 47% benign(0.056) tolerated(0.52) neutral(0.012) NULL CSNK1A1L 122011 genome.wustl.edu 37 13 37678957 37678957 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145203.5 -1 validated p.T146N 1.000 346 0.3% 197 39.1% 0 - benign(0.045) deleterious(0) neutral(0.447) superfamily_Kinase_like,HMMPfam_Pkinase TRPC4 7223 genome.wustl.edu 37 13 38211358 38211358 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003306.1 -1 validated p.A877 0.986 217 0% 132 28.8% 0 - - - - NULL TRPC4 7223 genome.wustl.edu 37 13 38213433 38213433 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003306.1 -1 validated p.R700* 1.000 292 0% 158 34.2% 0 - - - - NULL TRPC4 7223 genome.wustl.edu 37 13 38248505 38248505 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003306.1 -1 validated e4-1 1.000 114 0.9% 85 35.3% 0 - - - - - TRPC4 7223 genome.wustl.edu 37 13 38357206 38357206 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003306.1 -1 validated p.L89F 0.999 356 0% 344 34.6% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK FREM2 341640 genome.wustl.edu 37 13 39433577 39433577 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207361.4 +1 reviewed p.T2457A 1.000 250 0.4% 159 17% 2 50% probably_damaging(0.99) tolerated(0.05) deleterious(0.787) NULL LHFP 10186 genome.wustl.edu 37 13 40175145 40175145 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005780.2 -1 reviewed p.R70H 1.000 345 0% 158 27.2% 18 27.7% probably_damaging(0.983) deleterious(0.02) deleterious(0.812) HMMPfam_L_HGMIC_fpl LHFP 10186 genome.wustl.edu 37 13 40175281 40175281 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005780.2 -1 reviewed p.V25M 1.000 236 0% 120 30.8% 9 33.3% possibly_damaging(0.929) deleterious(0.02) deleterious(0.759) HMMPfam_L_HGMIC_fpl FOXO1 2308 genome.wustl.edu 37 13 41133803 41133803 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002015.3 -1 reviewed p.R609C 1.000 296 0.3% 145 33.1% 10 30% possibly_damaging(0.919) deleterious(0.01) deleterious(0.775) NULL SLC25A15 10166 genome.wustl.edu 37 13 41379386 41379386 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014252.3 +1 reviewed p.S149 1.000 124 0.8% 76 30.3% 18 66.6% - - - superfamily_Mitochondrial carrier,HMMPfam_Mito_carr NAA16 79612 genome.wustl.edu 37 13 41943311 41943311 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024561.4 +1 validated p.K613 1.000 355 0% 250 29.2% 9 44.4% - - - superfamily_TPR-like NAA16 79612 genome.wustl.edu 37 13 41947883 41947883 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024561.4 +1 validated p.R756C 0.028 523 0% 360 25.6% 2 50% possibly_damaging(0.76) tolerated(0.1) deleterious(0.568) NULL KIAA0564 23078 genome.wustl.edu 37 13 42404670 42404670 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015058.1 -1 validated p.Q565 0.817 301 0% 161 21.1% 4 0% - - - HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases KIAA0564 23078 genome.wustl.edu 37 13 42442612 42442612 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015058.1 -1 validated p.R361H 1.000 351 0% 200 33% 1 100% probably_damaging(0.997) tolerated(0.08) deleterious(0.766) NULL KIAA0564 23078 genome.wustl.edu 37 13 42524143 42524143 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015058.1 -1 validated p.T57I 1.000 76 0% 63 28.6% 4 50% possibly_damaging(0.598) tolerated(0.16) neutral(0.266) NULL AKAP11 11215 genome.wustl.edu 37 13 42874186 42874186 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016248.2 +1 reviewed p.R435H 1.000 535 0% 419 31.3% 8 12.5% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL AKAP11 11215 genome.wustl.edu 37 13 42874983 42874983 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016248.2 +1 reviewed p.A701T 1.000 287 0% 221 28.5% 11 72.7% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL AKAP11 11215 genome.wustl.edu 37 13 42877161 42877161 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016248.2 +1 reviewed p.S1427C 0.254 287 0% 208 12.5% 6 33.3% probably_damaging(0.988) tolerated(0.11) deleterious(0.709) NULL EPSTI1 94240 genome.wustl.edu 37 13 43491707 43491707 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001002264.1 -1 validated p.L248 0.601 1169 0.1% 666 27.3% 7 0% - - - NULL EPSTI1 94240 genome.wustl.edu 37 13 43544784 43544784 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001002264.1 -1 validated p.A71S 0.470 280 0% 164 40.9% 4 0% probably_damaging(0.975) deleterious(0) deleterious(0.861) NULL TSC22D1 8848 genome.wustl.edu 37 13 45149686 45149686 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_183422.2 -1 validated p.E175D 1.000 48 0% 19 31.6% 93 44% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL KIAA1704 55425 genome.wustl.edu 37 13 45602031 45602031 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018559.2 +1 predicted p.D306Y 1.000 201 0% 121 19.8% 15 20% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SLC25A30 253512 genome.wustl.edu 37 13 45973125 45973125 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001010875.2 -1 validated p.R235* 0.015 291 0.3% 173 31.8% 11 0% - - - superfamily_Mitoch_carrier,HMMPfam_Mito_carr SIAH3 283514 genome.wustl.edu 37 13 46357611 46357611 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198849.2 -1 validated p.T239 0.926 112 0% 61 21.3% 0 - - - - superfamily_Traf_like,HMMPfam_Sina LCP1 3936 genome.wustl.edu 37 13 46708369 46708369 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002298.4 -1 reviewed p.L507I 1.000 311 0% 161 13.7% 22 0% probably_damaging(0.985) deleterious(0) deleterious(0.877) superfamily_Calponin-homology RB1 5925 genome.wustl.edu 37 13 48934257 48934257 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000321.2 +1 reviewed p.P238S 1.000 178 0% 127 27.6% 27 48.1% possibly_damaging(0.856) tolerated(0.74) neutral(0.332) NULL RCBTB2 1102 genome.wustl.edu 37 13 49077014 49077014 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000430805 -1 known p.V250I 0.005 72 0% 42 23.8% 8 50% benign(0) tolerated(0.12) neutral(0.261) NULL MLNR 2862 genome.wustl.edu 37 13 49796292 49796292 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001507.1 +1 provisional p.A340T 0.796 307 0% 193 30.6% 1 0% possibly_damaging(0.945) tolerated(0.08) deleterious(0.690) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like RCBTB1 55213 genome.wustl.edu 37 13 50115933 50115933 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018191.3 -1 reviewed p.S401 0.002 113 0% 87 21.8% 16 37.5% - - - HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB INTS6 26512 genome.wustl.edu 37 13 51943112 51943112 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012141.2 -1 reviewed p.K813N 1.000 636 0% 382 28.8% 43 58.1% possibly_damaging(0.936) deleterious(0.01) deleterious(0.787) NULL NEK5 341676 genome.wustl.edu 37 13 52667217 52667217 + Missense_Mutation SNP G G A rs145214408 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_199289.1 -1 provisional p.T394M 0.191 254 0% 176 26.7% 4 25% benign(0.144) tolerated(0.22) neutral(0.055) NULL NEK5 341676 genome.wustl.edu 37 13 52686495 52686495 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_199289.1 -1 provisional p.G74D 0.000 123 0% 95 22.1% 1 0% benign(0.001) tolerated(0.08) neutral(0.300) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase THSD1 55901 genome.wustl.edu 37 13 52971655 52971655 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018676.3 -1 reviewed p.V245M 1.000 146 0% 89 23.6% 2 100% benign(0.044) tolerated(0.4) neutral(0.018) NULL LECT1 11061 genome.wustl.edu 37 13 53277862 53277862 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007015.2 -1 reviewed p.T291 0.925 141 0% 112 28.6% 0 - - - - NULL PCDH8 5100 genome.wustl.edu 37 13 53422262 53422262 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002590.2 -1 reviewed p.L104M 1.000 38 2.6% 19 31.6% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDH17 27253 genome.wustl.edu 37 13 58206753 58206753 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001040429.2 +1 reviewed p.V25M 0.996 15 0.000 7 0.571 0 - possibly_damaging(0.952) deleterious(0) deleterious(0.840) HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDH17 27253 genome.wustl.edu 37 13 58207470 58207470 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001040429.2 +1 reviewed p.D264N 1.000 79 0% 44 15.9% 1 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Cadherin,superfamily_Cadherin-like LOC390407 390407 genome.wustl.edu 37 13 61212023 61212023 + RNA SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XR_078475.1 -1 model NULL 1.000 166 0% 114 21.9% 0 - - - - - PCDH20 64881 genome.wustl.edu 37 13 61985588 61985588 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022843.3 -1 validated p.E882* 1.000 223 0% 125 32% 3 0% - - - NULL PCDH20 64881 genome.wustl.edu 37 13 61987142 61987142 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022843.3 -1 validated p.P364S 1.000 483 0% 226 33.6% 1 0% benign(0.005) tolerated(1) - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDH20 64881 genome.wustl.edu 37 13 61988013 61988013 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022843.3 -1 validated p.N73 0.999 36 0% 22 27.3% 1 0% - - - HMMPfam_Cadherin_2 LOC647262 647262 genome.wustl.edu 37 13 64321224 64321224 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_934622.3 +1 model p.G97 0.381 448 0% 217 32.3% 0 - - - - NULL KLHL1 57626 genome.wustl.edu 37 13 70281859 70281859 + Silent SNP G G C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020866.2 -1 validated p.V695 0.586 215 0% 165 31.5% 0 - - - - HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain MZT1 440145 genome.wustl.edu 37 13 73293205 73293205 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001071775.2 -1 validated p.T37N 1.000 375 0% 215 27% 32 56.2% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL BORA 79866 genome.wustl.edu 37 13 73312135 73312135 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024808.2 +1 validated p.W114* 1.000 163 0% 132 22% 5 40% - - - NULL DIS3 22894 genome.wustl.edu 37 13 73347922 73347922 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014953.3 -1 validated p.I380S 1.000 236 0% 143 30.1% 21 42.8% probably_damaging(0.986) deleterious(0) deleterious(0.879) NULL DIS3 22894 genome.wustl.edu 37 13 73352462 73352462 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014953.3 -1 validated p.A148V 1.000 65 0% 50 24% 19 36.8% benign(0.081) deleterious(0.01) neutral(0.412) HMMSmart_SM00670,superfamily_PIN domain-like DIS3 22894 genome.wustl.edu 37 13 73355067 73355067 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014953.3 -1 validated p.R101 0.678 206 0% 82 13.4% 8 0% - - - HMMSmart_SM00670,superfamily_PIN domain-like PIBF1 10464 genome.wustl.edu 37 13 73539478 73539478 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006346.2 +1 validated p.R634C 1.000 136 0% 55 27.3% 23 52.1% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL KLF5 688 genome.wustl.edu 37 13 73636199 73636199 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001730.3 +1 reviewed p.Q154H 1.000 262 0% 187 27.8% 72 43% probably_damaging(0.983) tolerated(0.05) deleterious(0.774) NULL TBC1D4 9882 genome.wustl.edu 37 13 75900464 75900464 + Silent SNP C C T rs184072266 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014832.2 -1 validated p.P634 0.449 98 0% 48 25% 14 35.7% - - - NULL LMO7 4008 genome.wustl.edu 37 13 76395702 76395702 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015842.2 +1 reviewed p.G633V 1.000 264 0% 168 31.5% 16 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MYCBP2 23077 genome.wustl.edu 37 13 77669695 77669695 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015057.4 -1 validated p.R3295C 1.000 183 0.5% 162 22.2% 8 37.5% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL MYCBP2 23077 genome.wustl.edu 37 13 77720341 77720341 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015057.4 -1 validated p.N2343K 0.998 198 0% 159 23.3% 3 66.6% probably_damaging(0.99) tolerated(0.07) deleterious(0.760) superfamily_E set domains MYCBP2 23077 genome.wustl.edu 37 13 77748602 77748602 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015057.4 -1 validated p.R1794H 1.000 293 0% 164 33.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PHR MYCBP2 23077 genome.wustl.edu 37 13 77752032 77752032 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015057.4 -1 validated p.T1693A 1.000 225 0% 134 20.9% 1 100% possibly_damaging(0.734) tolerated(0.17) neutral(0.328) HMMPfam_PHR POU4F1 5457 genome.wustl.edu 37 13 79175651 79175651 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006237.3 -1 validated p.A387T 1.000 48 0% 22 31.8% 1 0% possibly_damaging(0.949) deleterious(0.03) deleterious(0.758) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like RNF219 79596 genome.wustl.edu 37 13 79213138 79213138 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024546.3 -1 validated p.Q123H 1.000 363 0% 199 14.6% 6 33.3% benign(0.064) deleterious(0.02) neutral(0.387) NULL RNF219 79596 genome.wustl.edu 37 13 79219036 79219036 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024546.3 -1 validated p.V57I 1.000 412 0% 218 28% 6 33.3% benign(0.291) tolerated(0.14) neutral(0.339) superfamily_RING/U-box SPRY2 10253 genome.wustl.edu 37 13 80911263 80911263 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005842.2 -1 reviewed p.R193M 1.000 128 0% 73 21.9% 52 32.6% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_Sprouty SPRY2 10253 genome.wustl.edu 37 13 80911348 80911348 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005842.2 -1 reviewed p.P165S 1.000 120 0% 74 16.2% 37 8.1% probably_damaging(0.995) tolerated(0.52) neutral(0.466) NULL SLITRK1 114798 genome.wustl.edu 37 13 84454598 84454598 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052910.1 -1 reviewed p.H349Y 1.000 144 0% 58 31% 0 - benign(0.003) tolerated(0.42) neutral(0.014) HMMSmart_LRRNT,superfamily_SSF52058 SLITRK6 84189 genome.wustl.edu 37 13 86368833 86368833 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032229.2 -1 validated p.A604D 1.000 280 0% 233 28.8% 6 83.3% benign(0.141) tolerated(0.08) neutral(0.312) NULL SLITRK5 26050 genome.wustl.edu 37 13 88329125 88329125 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015567.1 +1 validated p.R494 0.913 239 0% 145 27.6% 4 25% - - - HMMSmart_SM00369,superfamily_L domain-like SLITRK5 26050 genome.wustl.edu 37 13 88329518 88329518 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015567.1 +1 validated p.P625 1.000 246 0% 131 13.7% 1 100% - - - superfamily_L domain-like GPC5 2262 genome.wustl.edu 37 13 92380868 92380868 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004466.4 +1 reviewed p.G368V 0.998 570 0.2% 403 28.3% 0 - benign(0.048) tolerated(0.53) neutral(0.010) HMMPfam_Glypican GPC5 2262 genome.wustl.edu 37 13 92797193 92797193 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004466.4 +1 reviewed p.C504* 0.866 346 0.6% 238 30.7% 0 - - - - HMMPfam_Glypican GPC6 10082 genome.wustl.edu 37 13 95050870 95050870 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005708.3 +1 reviewed p.G480 1.000 261 0% 187 25.1% 13 46.1% - - - HMMPfam_Glypican DCT 1638 genome.wustl.edu 37 13 95131420 95131420 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001129889.1 -1 validated p.M30I 1.000 131 0% 58 37.9% 0 - benign(0.124) tolerated(0.06) neutral(0.333) NULL DZIP1 22873 genome.wustl.edu 37 13 96293855 96293855 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198968.2 -1 validated p.T97 1.000 109 0% 39 30.8% 2 0% - - - NULL UGGT2 55757 genome.wustl.edu 37 13 96599291 96599291 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020121.3 -1 validated p.H559 0.001 212 0.5% 164 26.8% 2 50% - - - NULL UGGT2 55757 genome.wustl.edu 37 13 96599307 96599307 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020121.3 -1 validated p.F554C 1.000 240 0% 184 29.9% 3 33.3% probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL MBNL2 10150 genome.wustl.edu 37 13 97999257 97999257 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144778.2 +1 reviewed p.A247V 1.000 31 0% 17 64.7% 22 31.8% possibly_damaging(0.659) deleterious(0.04) deleterious(0.582) NULL RAP2A 5911 genome.wustl.edu 37 13 98116647 98116647 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021033.6 +1 validated p.A168V 0.997 221 0% 143 14.7% 20 15% benign(0.009) tolerated(0.23) neutral(0.042) HMMSmart_SM00176,superfamily_P-loop containing nucleoside triphosphate hydrolases IPO5 3843 genome.wustl.edu 37 13 98637706 98637706 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002271.4 +1 reviewed p.R86H 1.000 191 0% 116 25% 70 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM-type_fold FARP1 10160 genome.wustl.edu 37 13 99040701 99040701 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005766.2 +1 reviewed p.R275H 1.000 62 0% 36 22.2% 44 25% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_FERM_C,superfamily_PH domain-like FARP1 10160 genome.wustl.edu 37 13 99063018 99063018 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005766.2 +1 reviewed p.A545T 1.000 40 0% 27 25.9% 44 38.6% probably_damaging(0.999) tolerated(0.09) deleterious(0.787) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) FARP1 10160 genome.wustl.edu 37 13 99091387 99091387 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005766.2 +1 reviewed p.S790 0.996 126 0% 54 11.1% 62 11.2% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like STK24 8428 genome.wustl.edu 37 13 99127579 99127579 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003576.3 -1 validated p.A134T 1.000 104 0% 45 26.7% 118 40.6% probably_damaging(0.989) deleterious(0.01) deleterious(0.845) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DOCK9 23348 genome.wustl.edu 37 13 99449492 99449492 + Silent SNP A A C rs78977328 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000400228 -1 known p.L588V 0.998 73 0% 32 25% 21 33.3% - - - HMMPfam_Ded_cyto ZIC5 85416 genome.wustl.edu 37 13 100617821 100617821 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033132.3 -1 validated p.P601H 1.000 65 0% 41 24.4% 0 - unknown(0) deleterious(0) - NULL PCCA 5095 genome.wustl.edu 37 13 100925468 100925468 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000282.3 +1 reviewed p.E311D 0.999 244 0% 140 24.3% 20 40% benign(0) tolerated(0.27) neutral(0.034) HMMPfam_CPSase_L_D2,superfamily_SSF56059 TMTC4 84899 genome.wustl.edu 37 13 101287075 101287075 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032813.2 -1 validated p.C497Y 1.000 385 0% 182 24.7% 27 59.2% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_TPR-like TMTC4 84899 genome.wustl.edu 37 13 101287433 101287433 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032813.2 -1 validated p.L407 1.000 79 0% 40 32.5% 17 52.9% - - - NULL TMTC4 84899 genome.wustl.edu 37 13 101315352 101315352 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032813.2 -1 validated p.L140I 0.991 132 0% 74 13.5% 21 9.5% probably_damaging(0.994) tolerated(0.07) deleterious(0.771) NULL NALCN 259232 genome.wustl.edu 37 13 101756888 101756888 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052867.2 -1 validated p.T917N 1.000 263 0% 208 25.5% 0 - benign(0.008) tolerated(0.48) neutral(0.011) superfamily_Voltage-gated potassium channels NALCN 259232 genome.wustl.edu 37 13 101833635 101833635 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000376196 -1 known p.C606 0.000 110 0% 58 25.9% 0 - - - - NULL NALCN 259232 genome.wustl.edu 37 13 102029055 102029055 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052867.2 -1 validated p.P214S 0.853 460 0% 354 13% 0 - benign(0) tolerated(0.07) neutral(0.319) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels TPP2 7174 genome.wustl.edu 37 13 103297309 103297309 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003291.2 +1 reviewed p.Y781 0.348 255 0% 220 25.9% 38 68.4% - - - NULL ERCC5 2073 genome.wustl.edu 37 13 103518988 103518988 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000123.2 +1 reviewed p.L776M 1.000 58 0% 30 40% 40 30% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_PIN domain-like SLC10A2 6555 genome.wustl.edu 37 13 103718399 103718399 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000452.2 -1 reviewed p.G67 1.000 428 0% 265 27.5% 0 - - - - HMMPfam_SBF SLC10A2 6555 genome.wustl.edu 37 13 103718444 103718444 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000452.2 -1 reviewed p.N52 0.975 519 0.2% 338 31.7% 0 - - - - HMMPfam_SBF ABHD13 84945 genome.wustl.edu 37 13 108881859 108881859 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032859.2 +1 validated p.R98H 1.000 220 0.9% 129 28.7% 22 59% benign(0.004) tolerated(0.12) neutral(0.261) superfamily_alpha/beta-Hydrolases MYO16 23026 genome.wustl.edu 37 13 109644730 109644730 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015011.1 +1 validated p.Q770H 0.686 121 0% 94 26.6% 0 - benign(0.144) tolerated(0.12) neutral(0.273) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO16 23026 genome.wustl.edu 37 13 109672232 109672232 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000397268 +1 known p.L922I 0.024 150 0% 110 29.1% 0 - - - - HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO16 23026 genome.wustl.edu 37 13 109672251 109672251 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015011.1 +1 validated p.A908T 0.994 146 0% 106 38.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO16 23026 genome.wustl.edu 37 13 109704717 109704717 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015011.1 +1 validated p.A959D 0.145 476 0% 321 28.3% 0 - benign(0.003) tolerated(0.14) neutral(0.249) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO16 23026 genome.wustl.edu 37 13 109777511 109777511 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015011.1 +1 validated p.R1174I 0.006 123 0% 60 28.3% 0 - probably_damaging(0.984) deleterious(0.02) deleterious(0.814) NULL MYO16 23026 genome.wustl.edu 37 13 109792641 109792641 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015011.1 +1 validated p.D1339N 1.000 19 0% 12 33.3% 0 - possibly_damaging(0.879) deleterious(0) deleterious(0.787) NULL MYO16 23026 genome.wustl.edu 37 13 109817294 109817294 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015011.1 +1 validated p.T1715M 0.085 110 0.9% 66 24.2% 0 - benign(0.034) deleterious(0) neutral(0.447) NULL COL4A1 1282 genome.wustl.edu 37 13 110864820 110864820 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001845.4 -1 reviewed p.P111S 1.000 301 0% 145 26.2% 42 7.1% unknown(0) tolerated(0.24) - HMMPfam_Collagen COL4A2 1284 genome.wustl.edu 37 13 111082271 111082271 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001846.2 +1 reviewed p.A173T 0.081 124 0% 76 18.4% 81 1.2% unknown(0) tolerated(0.55) - HMMPfam_Collagen COL4A2 1284 genome.wustl.edu 37 13 111160338 111160338 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001846.2 +1 reviewed p.P1551T 1.000 85 0% 25 52% 260 9.2% possibly_damaging(0.739) tolerated(0.32) neutral(0.295) HMMPfam_C4,HMMSmart_C4,superfamily_C-type_lectin_fold COL4A2 1284 genome.wustl.edu 37 13 111160418 111160418 + Silent SNP C C A rs72659607 byCluster;by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001846.2 +1 reviewed p.P1577 0.006 90 0% 36 13.9% 294 5.1% - - - HMMPfam_C4,HMMSmart_C4,superfamily_C-type_lectin_fold COL4A2 1284 genome.wustl.edu 37 13 111164403 111164403 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001846.2 +1 reviewed p.Y1668 0.985 73 0% 33 42.4% 238 10.9% - - - HMMPfam_C4,HMMSmart_C4,superfamily_C-type_lectin_fold CARS2 79587 genome.wustl.edu 37 13 111298324 111298324 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024537.2 -1 validated p.A436V 0.485 61 1.6% 20 25% 72 41.6% possibly_damaging(0.951) deleterious(0.04) deleterious(0.743) superfamily_tRNAsyn_1a_bind SPACA7 122258 genome.wustl.edu 37 13 113086790 113086790 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145248.3 +1 provisional p.L160I 0.000 161 0% 93 24.7% 0 - benign(0.35) deleterious(0) deleterious(0.555) NULL ATP11A 23250 genome.wustl.edu 37 13 113479819 113479819 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000418678 +1 known p.T291I 1.000 100 0% 37 35.1% 4 25% - - - NULL ATP11A 23250 genome.wustl.edu 37 13 113514652 113514652 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032189.3 +1 reviewed p.L927F 1.000 187 0% 93 29% 23 52.1% probably_damaging(0.994) tolerated(0.19) deleterious(0.502) superfamily_Calcium ATPase transmembrane domain M CUL4A 8451 genome.wustl.edu 37 13 113891167 113891167 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001008895.1 +1 validated p.Q293H 1.000 137 0% 76 13.2% 74 29.7% probably_damaging(0.999) tolerated(0.05) deleterious(0.836) HMMPfam_Cullin,superfamily_Cullin repeat DCUN1D2 55208 genome.wustl.edu 37 13 114128570 114128570 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001014283.1 -1 validated e4-1 1.000 260 0% 137 14.6% 0 - - - - - TFDP1 7027 genome.wustl.edu 37 13 114292158 114292158 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007111.4 +1 reviewed p.G344 0.891 91 0% 53 11.3% 186 5.3% - - - HMMPfam_DP ATP4B 496 genome.wustl.edu 37 13 114309204 114309204 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000705.3 -1 reviewed p.A56T 0.693 67 0% 35 20% 0 - probably_damaging(0.989) tolerated(0.85) neutral(0.440) HMMPfam_Na_K-ATPase CDC16 8881 genome.wustl.edu 37 13 115007621 115007621 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001078645.1 +1 reviewed p.R136H 1.000 296 0% 159 33.3% 70 35.7% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like POTEM 641455 genome.wustl.edu 37 14 20019852 20019852 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001145442.1 -1 provisional p.Y123 0.000 159 0.6% 98 35.7% 0 - - - - superfamily_ANK OR4K1 79544 genome.wustl.edu 37 14 20404387 20404387 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004063.2 +1 validated p.A188S 0.987 337 0% 239 18.8% 0 - probably_damaging(0.995) deleterious(0.02) deleterious(0.841) HMMPfam_7tm_1,superfamily_SSF81321 OR4K15 81127 genome.wustl.edu 37 14 20444639 20444639 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005486.1 +1 provisional p.A321V 0.803 291 0% 201 28.9% 0 - possibly_damaging(0.498) deleterious(0.01) deleterious(0.572) superfamily_SSF81321 OR4L1 122742 genome.wustl.edu 37 14 20528912 20528912 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004717.1 +1 provisional p.L237M 0.989 305 0.3% 234 28.6% 0 - benign(0.283) deleterious(0.03) neutral(0.452) HMMPfam_7tm_1,superfamily_SSF81321 PARP2 10038 genome.wustl.edu 37 14 20825912 20825912 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005484.3 +1 reviewed p.R570W 1.000 368 0% 202 25.7% 18 22.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PARP,superfamily_ADP-ribosylation TEP1 7011 genome.wustl.edu 37 14 20871889 20871889 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007110.4 -1 reviewed p.R396H 0.002 216 0% 138 31.2% 1 0% benign(0.007) tolerated(0.09) neutral(0.296) HMMPfam_TROVE RNASE11 122651 genome.wustl.edu 37 14 21052622 21052622 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145250.3 -1 validated p.F4 0.000 321 0% 212 35.8% 0 - - - - NULL ANG 283 genome.wustl.edu 37 14 21162122 21162122 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001097577.2 +1 reviewed p.N133 0.000 319 0% 176 26.1% 7 28.5% - - - HMMPfam_RnaseA,HMMSmart_SM00092,superfamily_RNase A-like LOC100287557 100287557 genome.wustl.edu 37 14 21269745 21269745 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002343252.1 +1 model p.A10T 0.000 100 0% 53 20.8% 171 0.5% - - - NULL SUPT16H 11198 genome.wustl.edu 37 14 21841580 21841580 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007192.3 -1 reviewed p.D26N 1.000 337 0% 218 33% 31 25.8% benign(0.026) tolerated(0.24) neutral(0.038) NULL CHD8 57680 genome.wustl.edu 37 14 21862613 21862613 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020920.3 -1 reviewed p.R1529* 1.000 92 1.1% 48 35.4% 18 5.5% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases CHD8 57680 genome.wustl.edu 37 14 21863188 21863188 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020920.3 -1 reviewed p.R1479H 1.000 159 0% 90 31.1% 15 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases CHD8 57680 genome.wustl.edu 37 14 21870169 21870169 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020920.3 -1 reviewed p.R1058* 1.000 342 0% 187 28.3% 25 4% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases CHD8 57680 genome.wustl.edu 37 14 21870262 21870262 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020920.3 -1 reviewed p.L1027I 1.000 215 0.5% 106 29.2% 13 15.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases CHD8 57680 genome.wustl.edu 37 14 21876596 21876596 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020920.3 -1 reviewed p.S590P 1.000 348 0% 212 28.3% 15 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases CHD8 57680 genome.wustl.edu 37 14 21897480 21897480 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020920.3 -1 reviewed p.R7 1.000 123 0% 64 29.7% 5 0% - - - NULL TOX4 9878 genome.wustl.edu 37 14 21956944 21956944 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014828.2 +1 validated p.R172C 1.000 295 0% 171 15.8% 54 27.7% probably_damaging(0.966) deleterious(0.05) deleterious(0.753) NULL TOX4 9878 genome.wustl.edu 37 14 21957480 21957480 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014828.2 +1 validated p.G243E 1.000 494 0.2% 311 23.8% 34 50% probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_HMG_box,HMMSmart_HMG,superfamily_HMG-box TOX4 9878 genome.wustl.edu 37 14 21961327 21961327 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014828.2 +1 validated p.R518W 1.000 247 0% 168 32.1% 78 52.5% possibly_damaging(0.938) deleterious(0.04) deleterious(0.732) NULL METTL3 56339 genome.wustl.edu 37 14 21971601 21971601 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019852.3 -1 reviewed p.T146 1.000 215 0% 106 29.2% 26 46.1% - - - NULL OR10G3 26533 genome.wustl.edu 37 14 22038633 22038633 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005465.1 -1 validated p.R81 0.487 146 0% 74 25.7% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OXA1L 5018 genome.wustl.edu 37 14 23239425 23239425 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005015.3 +1 validated p.A263T 0.410 304 0% 157 29.3% 170 47% benign(0) tolerated(1) - HMMPfam_60KD_IMP SLC7A7 9056 genome.wustl.edu 37 14 23249241 23249241 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001126105.1 -1 reviewed p.N173K 1.000 600 0.2% 407 26.5% 21 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AA_permease MMP14 4323 genome.wustl.edu 37 14 23310849 23310849 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004995.2 +1 reviewed e2+1 1.000 63 0% 27 29.6% 12 100% - - - - MMP14 4323 genome.wustl.edu 37 14 23312549 23312549 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004995.2 +1 reviewed p.A258S 1.000 85 0% 40 32.5% 96 8.3% probably_damaging(1) tolerated(0.05) deleterious(0.845) "HMMPfam_Peptidase_M10,HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain" PRMT5 10419 genome.wustl.edu 37 14 23390118 23390118 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006109.3 -1 validated p.L637I 1.000 163 0% 76 13.2% 87 1.1% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_S-adenosyl-L-methionine-dependent methyltransferases PRMT5 10419 genome.wustl.edu 37 14 23395506 23395506 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006109.3 -1 validated e7-1 1.000 397 0% 185 29.2% 3 33.3% - - - - HAUS4 54930 genome.wustl.edu 37 14 23420773 23420773 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017815.2 -1 reviewed p.P152 0.948 183 0% 101 29.7% 18 33.3% - - - NULL PSMB5 5693 genome.wustl.edu 37 14 23495561 23495561 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002797.3 -1 reviewed p.G177W 1.000 429 0% 270 13.7% 520 23.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Proteasome,superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) SLC7A8 23428 genome.wustl.edu 37 14 23600736 23600736 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000334354 -1 known p.P146S 1.000 79 0% 36 44.4% 5 0% unknown(0) tolerated(0.11) - NULL BCL2L2 599 genome.wustl.edu 37 14 23777260 23777260 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004050.3 +1 reviewed p.R95H 1.000 51 0% 26 30.8% 20 70% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Bcl-2,HMMSmart_SM00337,PatternScan_BH1,superfamily_Bcl-2 inhibitors of programmed cell death PABPN1 8106 genome.wustl.edu 37 14 23793180 23793180 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004643.2 +1 reviewed p.A216 0.157 225 0% 126 31% 239 38.4% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD MYH6 4624 genome.wustl.edu 37 14 23855802 23855802 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002471.3 -1 validated p.L1561I 1.000 189 0% 83 31.3% 0 - probably_damaging(0.997) deleterious(0.04) deleterious(0.815) HMMPfam_Myosin_tail_1 MIR208B 100126336 genome.wustl.edu 37 14 23887212 23887212 + RNA SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000401172 -1 known NULL 1.000 125 0% 79 30.4% 0 - - - - - MYH7 4625 genome.wustl.edu 37 14 23889132 23889132 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000257.2 -1 reviewed p.K1216 1.000 193 0% 124 17.7% 1 0% - - - HMMPfam_Myosin_tail_1,superfamily_Prefoldin MYH7 4625 genome.wustl.edu 37 14 23898515 23898515 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000257.2 -1 reviewed p.D394N 1.000 408 0.2% 211 28% 0 - possibly_damaging(0.87) deleterious(0.02) deleterious(0.721) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYH7 4625 genome.wustl.edu 37 14 23901906 23901906 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000257.2 -1 reviewed p.S148 0.424 393 0% 204 28.9% 0 - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases NGDN 25983 genome.wustl.edu 37 14 23944953 23944953 + Missense_Mutation SNP G G A rs182201186 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001042635.1 +1 validated p.R129H 0.999 323 0.3% 193 28.5% 50 36% benign(0.341) tolerated(0.28) neutral(0.139) NULL NGDN 25983 genome.wustl.edu 37 14 23946746 23946746 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001042635.1 +1 validated p.P302H 0.005 270 0.4% 134 22.4% 31 48.3% unknown(0) tolerated(0.07) - NULL DHRS2 10202 genome.wustl.edu 37 14 24108391 24108391 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182908.4 +1 validated p.I48 0.623 124 0% 58 29.3% 1 0% - - - HMMPfam_adh_short,superfamily_NAD(P)-bd LRRC16B 90668 genome.wustl.edu 37 14 24535833 24535833 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138360.3 +1 validated p.A1217D 1.000 149 0.7% 94 36.2% 0 - probably_damaging(0.998) tolerated(0.09) deleterious(0.771) NULL FITM1 161247 genome.wustl.edu 37 14 24601521 24601521 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_203402.2 +1 validated p.R123K 0.995 61 0% 24 41.7% 4 25% benign(0.07) tolerated(0.16) neutral(0.065) HMMPfam_Scs3p PSME2 5721 genome.wustl.edu 37 14 24613226 24613226 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002818.2 -1 reviewed p.E170 1.000 259 0.4% 141 31.9% 291 32.9% - - - HMMPfam_PA28_beta,superfamily_Prot_act_regA RNF31 55072 genome.wustl.edu 37 14 24619946 24619946 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017999.4 +1 validated p.R446Q 0.000 170 0.6% 68 10.3% 21 19% benign(0) tolerated(0.83) neutral(0.001) NULL RNF31 55072 genome.wustl.edu 37 14 24629122 24629122 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017999.4 +1 validated p.D983 0.139 315 0% 161 23% 26 26.9% - - - NULL TM9SF1 10548 genome.wustl.edu 37 14 24658772 24658772 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006405.5 -1 validated p.R557H 1.000 183 0.5% 89 31.5% 98 41.8% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_EMP70 TSSK4 283629 genome.wustl.edu 37 14 24677206 24677206 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_174944.3 +1 reviewed p.R281C 1.000 389 0% 175 15.4% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase MDP1 145553 genome.wustl.edu 37 14 24683257 24683257 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000396833 -1 known p.P122S 0.138 271 0% 122 27.9% 19 57.8% benign(0.014) - - NULL GMPR2 51292 genome.wustl.edu 37 14 24702774 24702774 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016576.3 +1 validated p.G77 1.000 196 0% 73 21.9% 42 42.8% - - - HMMPfam_IMPDH,superfamily_Inosine monophosphate dehydrogenase (IMPDH) GMPR2 51292 genome.wustl.edu 37 14 24707487 24707487 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016576.3 +1 validated p.L263 1.000 85 0% 36 27.8% 54 40.7% - - - HMMPfam_IMPDH,superfamily_Inosine monophosphate dehydrogenase (IMPDH) TGM1 7051 genome.wustl.edu 37 14 24718631 24718631 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000359.2 -1 reviewed p.V781A 1.000 42 0% 19 21.1% 0 - possibly_damaging(0.807) tolerated(0.21) neutral(0.348) HMMPfam_Transglut_C,superfamily_Transglut_C TGM1 7051 genome.wustl.edu 37 14 24727595 24727595 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000359.2 -1 reviewed e8-1 1.000 54 0% 15 33.3% 0 - - - - - TGM1 7051 genome.wustl.edu 37 14 24731452 24731452 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000359.2 -1 reviewed p.R36H 0.026 47 0% 17 29.4% 0 - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) NULL LTB4R2 56413 genome.wustl.edu 37 14 24780695 24780695 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019839.4 +1 validated p.A306 0.004 36 0% 15 40% 2 0% - - - HMMPfam_7tm_1,superfamily_SSF81321 ADCY4 196883 genome.wustl.edu 37 14 24787904 24787904 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_139247.2 -1 reviewed p.V1013M 1.000 88 0% 38 18.4% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain,PatternScan_GUANYLATE_CYCLASE_1 ADCY4 196883 genome.wustl.edu 37 14 24788644 24788644 + Splice_Site SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_139247.2 -1 reviewed e22-2 1.000 76 0% 40 37.5% 0 - - - - - RIPK3 11035 genome.wustl.edu 37 14 24806337 24806337 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006871.3 -1 reviewed p.S410 0.000 137 0% 56 23.2% 1 0% - - - NULL NFATC4 4776 genome.wustl.edu 37 14 24838784 24838784 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001136022.1 +1 reviewed p.G123 0.997 144 0% 78 24.4% 0 - - - - NULL NFATC4 4776 genome.wustl.edu 37 14 24838873 24838873 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001136022.1 +1 reviewed p.A153V 0.963 55 0% 30 16.7% 1 0% possibly_damaging(0.668) deleterious(0.03) deleterious(0.601) NULL NFATC4 4776 genome.wustl.edu 37 14 24839240 24839240 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001136022.1 +1 reviewed p.G275 0.996 32 0% 19 31.6% 3 33.3% - - - NULL NFATC4 4776 genome.wustl.edu 37 14 24839788 24839788 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001136022.1 +1 reviewed p.S458I 1.000 59 0% 27 33.3% 4 0% probably_damaging(0.998) tolerated(0.11) deleterious(0.746) NULL NYNRIN 57523 genome.wustl.edu 37 14 24885568 24885568 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025081.2 +1 validated p.T1538M 0.255 39 0% 23 17.4% 3 33.3% benign(0.112) deleterious(0.04) neutral(0.358) NULL KHNYN 23351 genome.wustl.edu 37 14 24901227 24901227 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015299.2 +1 validated p.A254T 0.000 59 0% 24 29.2% 1 0% benign(0) tolerated(0.43) neutral(0.013) NULL CTSG 1511 genome.wustl.edu 37 14 25044565 25044565 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001911.2 -1 reviewed p.Y37H 0.005 290 0% 156 40.4% 0 - benign(0.017) tolerated(0.45) neutral(0.013) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys NOVA1 4857 genome.wustl.edu 37 14 26917827 26917827 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002515.2 -1 reviewed p.L288I 1.000 154 0% 85 27.1% 0 - benign(0.03) deleterious(0.05) neutral(0.347) NULL ENSG00000197358 0 genome.wustl.edu 37 14 28734164 28734164 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000355069 +1 known p.N135 0.957 169 0% 88 23.9% 38 0% - - - NULL HECTD1 25831 genome.wustl.edu 37 14 31598583 31598583 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015382.2 -1 validated p.L1332I 1.000 208 0% 145 29.7% 18 61.1% probably_damaging(0.998) tolerated(0.06) deleterious(0.797) HMMPfam_MIB_HERC2 HECTD1 25831 genome.wustl.edu 37 14 31604111 31604111 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015382.2 -1 validated p.T1182I 1.000 282 0% 212 25.9% 23 39.1% possibly_damaging(0.853) deleterious(0.01) deleterious(0.734) superfamily_Galactose-binding domain-like,HMMPfam_Sad1_UNC HEATR5A 25938 genome.wustl.edu 37 14 31844075 31844075 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015473.2 -1 validated p.G310V 1.000 126 0% 59 22% 3 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat ARHGAP5 394 genome.wustl.edu 37 14 32559968 32559968 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001030055.1 +1 reviewed p.G31 0.986 402 0.2% 265 32.5% 20 30% - - - HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases ARHGAP5 394 genome.wustl.edu 37 14 32560947 32560947 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001030055.1 +1 reviewed p.H358Y 1.000 607 0% 402 29.6% 11 27.2% benign(0.133) tolerated(0.41) neutral(0.026) NULL ARHGAP5 394 genome.wustl.edu 37 14 32561988 32561988 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001030055.1 +1 reviewed p.D705Y 1.000 470 0% 291 25.8% 19 52.6% benign(0.049) deleterious(0.05) neutral(0.348) NULL AKAP6 9472 genome.wustl.edu 37 14 33243039 33243039 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004274.4 +1 reviewed p.A1176 1.000 199 0% 174 30.5% 1 0% - - - HMMSmart_SM00150,superfamily_Spectrin repeat AKAP6 9472 genome.wustl.edu 37 14 33291250 33291250 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004274.4 +1 reviewed p.Q1411* 1.000 256 0% 214 30.8% 0 - - - - NULL NPAS3 64067 genome.wustl.edu 37 14 33684632 33684632 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173159.2 +1 reviewed p.G99W 1.000 100 0% 98 14.3% 8 12.5% possibly_damaging(0.923) tolerated(0.14) deleterious(0.622) NULL BAZ1A 11177 genome.wustl.edu 37 14 35231173 35231173 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013448.2 -1 validated p.A1345T 1.000 383 0% 244 34.4% 20 75% probably_damaging(0.982) tolerated(0.22) neutral(0.468) NULL BAZ1A 11177 genome.wustl.edu 37 14 35245608 35245608 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013448.2 -1 validated p.R784* 0.891 296 0.3% 211 30.8% 9 22.2% - - - NULL PPP2R3C 55012 genome.wustl.edu 37 14 35579108 35579108 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017917.2 -1 provisional p.Q107H 1.000 263 0% 157 27.4% 13 38.4% - - - superfamily_EF-hand PSMA6 5687 genome.wustl.edu 37 14 35761686 35761686 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002791.1 +1 reviewed p.S2P 1.000 66 0% 49 20.4% 239 30.5% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL RALGAPA1 253959 genome.wustl.edu 37 14 36008798 36008798 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_194301.2 -1 provisional p.R2068C 1.000 111 0% 51 17.6% 15 86.6% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL RALGAPA1 253959 genome.wustl.edu 37 14 36104693 36104693 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_194301.2 -1 provisional p.S1424P 1.000 190 0% 108 14.8% 7 0% benign(0.062) tolerated(0.42) neutral(0.018) NULL RALGAPA1 253959 genome.wustl.edu 37 14 36154163 36154163 + Silent SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_194301.2 -1 provisional p.A916 0.998 90 0% 58 13.8% 4 0% - - - NULL BRMS1L 84312 genome.wustl.edu 37 14 36333147 36333147 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032352.3 +1 reviewed p.V204F 1.000 238 0.4% 157 28.7% 4 25% possibly_damaging(0.95) deleterious(0.01) deleterious(0.799) HMMPfam_Sds3 SSTR1 6751 genome.wustl.edu 37 14 38679680 38679680 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001049.2 +1 reviewed p.A362 0.544 106 0% 69 15.9% 0 - - - - NULL CLEC14A 161198 genome.wustl.edu 37 14 38724071 38724071 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175060.1 -1 provisional p.S386F 0.006 128 0% 52 23.1% 15 0% possibly_damaging(0.861) deleterious(0.03) deleterious(0.698) NULL CLEC14A 161198 genome.wustl.edu 37 14 38724103 38724103 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175060.1 -1 provisional p.S375 0.000 150 0.7% 54 24.1% 13 0% - - - NULL CLEC14A 161198 genome.wustl.edu 37 14 38724408 38724408 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175060.1 -1 provisional p.A274T 0.953 142 0% 64 26.6% 10 0% possibly_damaging(0.815) tolerated(0.34) neutral(0.331) HMMSmart_EGF,PatternScan_EGF_2,superfamily_SSF57196 CLEC14A 161198 genome.wustl.edu 37 14 38724733 38724733 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175060.1 -1 provisional p.R165 0.960 65 0% 28 35.7% 10 0% - - - HMMSmart_CLECT,superfamily_C-type_lectin_fold SEC23A 10484 genome.wustl.edu 37 14 39512039 39512039 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006364.2 -1 reviewed p.R646H 1.000 257 0% 146 28.1% 27 51.8% probably_damaging(0.979) tolerated(0.22) neutral(0.464) HMMPfam_Gelsolin,superfamily_SSF82754 SEC23A 10484 genome.wustl.edu 37 14 39555009 39555009 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006364.2 -1 reviewed p.R262H 1.000 530 0% 323 25.7% 39 51.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sec23_trunk,superfamily_SSF53300,superfamily_SSF81995 GEMIN2 8487 genome.wustl.edu 37 14 39601217 39601217 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003616.2 +1 reviewed p.A230V 1.000 204 0.5% 135 12.6% 52 11.5% benign(0.013) tolerated(0.09) neutral(0.297) HMMPfam_SIP1 MIA2 117153 genome.wustl.edu 37 14 39717154 39717154 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_054024.3 +1 validated p.K459T 0.001 293 0% 228 25% 0 - possibly_damaging(0.671) deleterious(0.01) deleterious(0.643) NULL FSCB 84075 genome.wustl.edu 37 14 44973989 44973989 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032135.3 -1 validated p.A734 0.000 202 0% 104 24% 0 - - - - NULL FSCB 84075 genome.wustl.edu 37 14 44974680 44974680 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032135.3 -1 validated p.A504D 0.000 137 0% 73 31.5% 0 - possibly_damaging(0.847) tolerated(0.61) neutral(0.329) NULL FAM179B 23116 genome.wustl.edu 37 14 45431819 45431819 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015091.2 +1 validated p.S65 0.034 79 0% 35 31.4% 2 0% - - - NULL PRPF39 55015 genome.wustl.edu 37 14 45578918 45578918 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017922.3 +1 validated p.R371* 1.000 55 0% 34 32.4% 19 26.3% - - - HMMSmart_SM00386,superfamily_TPR-like FANCM 57697 genome.wustl.edu 37 14 45628483 45628483 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020937.2 +1 reviewed p.E527D 1.000 165 0% 95 24.2% 0 - benign(0.043) tolerated(0.16) neutral(0.062) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases MIS18BP1 55320 genome.wustl.edu 37 14 45675304 45675304 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018353.4 -1 validated p.G1074 1.000 153 0% 110 20.9% 18 72.2% - - - NULL RPL10L 140801 genome.wustl.edu 37 14 47120311 47120311 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080746.2 -1 reviewed p.R210Q 1.000 152 0% 92 22.8% 0 - benign(0.004) tolerated(0.08) neutral(0.300) NULL MDGA2 161357 genome.wustl.edu 37 14 47600939 47600939 + Silent SNP C C T rs189572619 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001113498.1 -1 validated p.S232 0.590 140 0% 127 11% 0 - - - - HMMSmart_IG,superfamily_SSF48726 ENSG00000248934 0 genome.wustl.edu 37 14 50089350 50089350 + RNA SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000504161 -1 novel NULL 0.917 105 0% 42 40.5% 38 57.8% - - - - ENSG00000248934 0 genome.wustl.edu 37 14 50089546 50089546 + RNA SNP C C A rs147608450 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000504161 -1 novel NULL 0.001 9 0.000 8 0.500 24 37.5% - - - - POLE2 5427 genome.wustl.edu 37 14 50150360 50150360 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002692.2 -1 provisional p.E40D 1.000 155 0% 81 23.5% 2 0% benign(0.107) deleterious(0.03) neutral(0.373) NULL KLHDC1 122773 genome.wustl.edu 37 14 50199444 50199444 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_172193.2 +1 validated p.P245T 1.000 165 0% 125 15.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Galactose oxidase central domain KLHDC1 122773 genome.wustl.edu 37 14 50218490 50218490 + Nonstop_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_172193.2 +1 validated p.*407Y 0.826 174 0% 100 38% 0 - - - - NULL NEMF 9147 genome.wustl.edu 37 14 50262614 50262614 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004713.3 -1 validated p.A838 0.000 217 0% 130 23.8% 19 52.6% - - - NULL SOS2 6655 genome.wustl.edu 37 14 50611954 50611954 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006939.2 -1 validated p.N867 1.000 209 0% 136 27.9% 6 33.3% - - - HMMPfam_RasGEF,HMMSmart_RasGEF,superfamily_Ras_GEF L2HGDH 79944 genome.wustl.edu 37 14 50734550 50734550 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024884.2 -1 reviewed p.A329T 1.000 457 0.2% 280 26.4% 13 61.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DAO,superfamily_FAD/NAD(P)-binding domain CDKL1 8814 genome.wustl.edu 37 14 50809701 50809701 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000356146 -1 known p.A768T 0.002 50 0% 37 18.9% 0 - - - - superfamily_Kinase_like ATL1 51062 genome.wustl.edu 37 14 51054666 51054666 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015915.4 +1 reviewed p.T51N 0.308 381 0.3% 257 24.1% 8 50% benign(0) tolerated(0.12) neutral(0.261) HMMPfam_GBP,superfamily_P-loop containing nucleoside triphosphate hydrolases NIN 51199 genome.wustl.edu 37 14 51210135 51210135 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020921.3 -1 reviewed p.K1767R 1.000 118 0% 73 19.2% 12 41.6% possibly_damaging(0.817) tolerated(0.39) neutral(0.325) NULL NIN 51199 genome.wustl.edu 37 14 51224178 51224178 + Missense_Mutation SNP C C A rs185029649 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020921.3 -1 reviewed p.R1190S 0.344 474 0% 294 28.6% 2 0% benign(0.004) deleterious(0) neutral(0.445) NULL ABHD12B 145447 genome.wustl.edu 37 14 51352339 51352339 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181814.1 +1 validated p.S88N 1.000 260 0% 145 26.9% 0 - probably_damaging(0.995) tolerated(0.18) deleterious(0.514) superfamily_SSF53474 TRIM9 114088 genome.wustl.edu 37 14 51475871 51475871 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015163.5 -1 reviewed p.T411 0.242 304 0% 143 30.1% 0 - - - - NULL TRIM9 114088 genome.wustl.edu 37 14 51477173 51477173 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015163.5 -1 reviewed p.R361C 1.000 355 0% 191 28.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00502 FRMD6 122786 genome.wustl.edu 37 14 52169236 52169236 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001042481.1 +1 validated p.D93N 1.000 401 0% 327 24.8% 3 33.3% possibly_damaging(0.895) tolerated(0.09) deleterious(0.649) HMMPfam_FERM_N,HMMSmart_B41,superfamily_SSF54236 C14orf166 51637 genome.wustl.edu 37 14 52466429 52466429 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016039.2 +1 validated p.N126T 1.000 121 0% 84 23.8% 318 44.6% possibly_damaging(0.72) tolerated(0.36) neutral(0.281) HMMPfam_RLL NID2 22795 genome.wustl.edu 37 14 52477679 52477679 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007361.3 -1 validated p.A1213T 0.986 311 0% 172 22.7% 5 20% possibly_damaging(0.858) deleterious(0.03) deleterious(0.696) HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain NID2 22795 genome.wustl.edu 37 14 52495538 52495538 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007361.3 -1 validated p.R811H 0.003 194 0% 110 26.4% 2 0% benign(0.007) tolerated(0.42) neutral(0.014) HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin NID2 22795 genome.wustl.edu 37 14 52508917 52508917 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007361.3 -1 validated p.A577 0.999 145 0% 80 37.5% 1 0% - - - HMMPfam_G2F,HMMSmart_SM00682,superfamily_GFP-like NID2 22795 genome.wustl.edu 37 14 52508981 52508981 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007361.3 -1 validated p.A556V 1.000 154 0% 65 21.5% 4 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_G2F,HMMSmart_SM00682,superfamily_GFP-like PSMC6 5706 genome.wustl.edu 37 14 53190704 53190704 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002806.3 +1 reviewed p.L348R 1.000 220 0% 139 26.6% 146 34.2% benign(0.006) deleterious(0.02) neutral(0.383) HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases BMP4 652 genome.wustl.edu 37 14 54416789 54416789 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001202.3 -1 reviewed p.N396K 1.000 242 0% 107 35.5% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TGF_beta,HMMSmart_SM00204,superfamily_Cystine-knot cytokines BMP4 652 genome.wustl.edu 37 14 54417227 54417227 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001202.3 -1 reviewed p.Q250H 1.000 227 0% 137 23.4% 6 0% benign(0.247) tolerated(0.31) neutral(0.052) HMMPfam_TGFb_propeptide DLGAP5 9787 genome.wustl.edu 37 14 55636159 55636159 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014750.4 -1 validated p.T502 0.985 342 0% 164 36% 26 50% - - - HMMPfam_GKAP ATG14 22863 genome.wustl.edu 37 14 55848902 55848902 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014924.3 -1 provisional p.A219T 0.982 233 0% 109 26.6% 8 50% probably_damaging(1) tolerated(0.32) deleterious(0.524) HMMPfam_DUF2355 TBPL2 387332 genome.wustl.edu 37 14 55907215 55907215 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_199047.2 -1 validated p.R17C 0.000 27 0% 17 41.2% 0 - benign(0) deleterious(0) neutral(0.445) NULL KTN1 3895 genome.wustl.edu 37 14 56101318 56101318 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001079521.1 +1 validated p.K468R 1.000 217 0% 173 12.1% 82 34.1% possibly_damaging(0.582) tolerated(0.31) neutral(0.227) NULL PELI2 57161 genome.wustl.edu 37 14 56763595 56763595 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021255.2 +1 validated p.R325Q 1.000 129 0% 67 29.9% 0 - benign(0.269) tolerated(0.53) neutral(0.036) HMMPfam_Pellino C14orf101 54916 genome.wustl.edu 37 14 57085351 57085351 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017799.3 +1 validated p.V366I 0.998 141 0% 87 23% 9 55.5% possibly_damaging(0.934) tolerated(0.66) neutral(0.383) NULL C14orf101 54916 genome.wustl.edu 37 14 57092212 57092212 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017799.3 +1 validated p.T504I 0.999 285 0% 178 22.5% 6 33.3% benign(0.282) tolerated(0.08) neutral(0.386) NULL OTX2 5015 genome.wustl.edu 37 14 57271027 57271027 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021728.2 -1 reviewed p.T51M 1.000 36 0% 26 38.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like EXOC5 10640 genome.wustl.edu 37 14 57713467 57713467 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006544.3 -1 reviewed p.F78I 1.000 446 0% 360 26.7% 9 33.3% possibly_damaging(0.849) tolerated(0.24) neutral(0.363) NULL SLC35F4 341880 genome.wustl.edu 37 14 58031072 58031072 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080455.1 -1 provisional p.E449D 1.000 162 0.6% 141 11.3% 0 - benign(0) tolerated(0.61) neutral(0.004) NULL C14orf37 145407 genome.wustl.edu 37 14 58563688 58563688 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001872.2 -1 predicted p.D615Y 1.000 158 0% 104 26% 1 100% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) NULL C14orf37 145407 genome.wustl.edu 37 14 58606092 58606092 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000438670 -1 known p.C13 0.004 187 0% 99 21.2% 0 - - - - NULL KIAA0586 9786 genome.wustl.edu 37 14 58909423 58909423 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014749.3 +1 validated e5-1 0.995 40 0% 27 29.6% 0 - - - - - DACT1 51339 genome.wustl.edu 37 14 59112329 59112329 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016651.5 +1 validated p.S330A 0.510 187 0.5% 82 30.5% 0 - benign(0.151) tolerated(1) neutral(0.013) NULL DACT1 51339 genome.wustl.edu 37 14 59113577 59113577 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016651.5 +1 validated p.Q746* 0.780 158 0% 65 24.6% 3 0% - - - NULL JKAMP 51528 genome.wustl.edu 37 14 59961886 59961886 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016475.3 +1 validated p.N134K 1.000 245 0% 101 19.8% 84 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DUF766 RTN1 6252 genome.wustl.edu 37 14 60212572 60212572 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021136.2 -1 reviewed p.P290H 0.017 438 0% 343 12% 1 0% probably_damaging(0.987) tolerated(0.15) deleterious(0.677) NULL RTN1 6252 genome.wustl.edu 37 14 60212708 60212708 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021136.2 -1 reviewed p.V245M 0.980 770 0.1% 636 27.4% 5 0% benign(0.015) deleterious(0) neutral(0.445) NULL RTN1 6252 genome.wustl.edu 37 14 60213102 60213102 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021136.2 -1 reviewed p.C113* 0.042 233 0% 194 37.1% 0 - - - - NULL C14orf135 64430 genome.wustl.edu 37 14 60591100 60591100 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022495.5 +1 validated p.S503 1.000 138 0% 97 30.9% 20 70% - - - NULL C14orf135 64430 genome.wustl.edu 37 14 60600866 60600866 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022495.5 +1 validated p.T915M 1.000 560 0% 423 29.8% 54 38.8% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Pecanex_C PPM1A 5494 genome.wustl.edu 37 14 60749956 60749956 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_177952.2 +1 reviewed p.G252S 1.000 302 0% 185 28.6% 59 59.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C PRKCH 5583 genome.wustl.edu 37 14 61997194 61997194 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006255.3 +1 reviewed p.L548I 1.000 222 0.5% 114 36.8% 11 18.1% probably_damaging(0.99) deleterious(0.02) deleterious(0.825) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HIF1A 3091 genome.wustl.edu 37 14 62207880 62207880 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001530.3 +1 validated p.N689 0.755 296 0% 186 31.2% 189 43.3% - - - NULL SYT16 83851 genome.wustl.edu 37 14 62567384 62567384 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031914.2 +1 validated p.G633C 1.000 166 0% 118 20.3% 0 - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMSmart_C2,superfamily_C2_CaLB KCNH5 27133 genome.wustl.edu 37 14 63179413 63179413 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_172376.1 -1 reviewed p.A623T 0.001 78 0% 48 43.8% 0 - unknown(0) tolerated(0.18) - NULL PPP2R5E 5529 genome.wustl.edu 37 14 63920601 63920601 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006246.2 -1 reviewed p.V54I 1.000 295 0% 142 31.7% 40 57.5% benign(0.017) deleterious(0.01) neutral(0.406) HMMPfam_B56 WDR89 112840 genome.wustl.edu 37 14 64066033 64066033 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001008726.1 -1 validated p.V210I 0.898 329 0.3% 175 28.6% 19 57.8% benign(0) tolerated(0.14) neutral(0.249) HMMSmart_WD40,superfamily_WD40_like WDR89 112840 genome.wustl.edu 37 14 64066239 64066239 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001008726.1 -1 validated p.A141V 0.998 242 0% 126 34.9% 12 50% possibly_damaging(0.903) tolerated(0.33) neutral(0.382) superfamily_WD40_like SGPP1 81537 genome.wustl.edu 37 14 64153129 64153129 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030791.2 -1 provisional p.G340 1.000 134 0% 98 25.5% 13 38.4% - - - NULL SYNE2 23224 genome.wustl.edu 37 14 64518781 64518781 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182914.2 +1 reviewed p.E2717V 0.406 411 0% 243 16.9% 3 33.3% probably_damaging(0.999) - - NULL SYNE2 23224 genome.wustl.edu 37 14 64560171 64560171 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182914.2 +1 reviewed p.D4027 0.250 489 0% 265 20.8% 8 0% - - - NULL SYNE2 23224 genome.wustl.edu 37 14 64565527 64565527 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182914.2 +1 reviewed p.S4123 0.184 182 0.5% 106 28.3% 1 100% - - - NULL SYNE2 23224 genome.wustl.edu 37 14 64692048 64692048 + Missense_Mutation SNP G G C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182914.2 +1 reviewed p.S6843T 0.008 62 0% 42 21.4% 41 24.3% unknown(0) - - NULL MTHFD1 4522 genome.wustl.edu 37 14 64915022 64915022 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005956.3 +1 reviewed p.V756M 0.998 65 0% 37 27% 123 40.6% benign(0.005) deleterious(0.02) neutral(0.383) HMMPfam_FTHFS,superfamily_P-loop containing nucleoside triphosphate hydrolases ZBTB25 7597 genome.wustl.edu 37 14 64954376 64954376 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006977.2 -1 validated p.Q191H 1.000 217 0% 143 33.6% 7 57.1% possibly_damaging(0.66) tolerated(0.16) neutral(0.292) NULL PLEKHG3 26030 genome.wustl.edu 37 14 65198135 65198135 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015549.1 +1 validated p.E246 0.999 68 0% 32 46.9% 16 18.7% - - - superfamily_SSF50729 PLEKHG3 26030 genome.wustl.edu 37 14 65198226 65198226 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015549.1 +1 validated p.R277W 1.000 106 0% 57 24.6% 19 21% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 SPTB 6710 genome.wustl.edu 37 14 65251054 65251054 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001024858.2 -1 reviewed p.A1305S 1.000 164 0% 85 22.4% 0 - possibly_damaging(0.865) tolerated(0.18) neutral(0.391) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin SPTB 6710 genome.wustl.edu 37 14 65266644 65266644 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001024858.2 -1 reviewed p.D295 1.000 201 0% 116 25.9% 0 - - - - superfamily_Spectrin SPTB 6710 genome.wustl.edu 37 14 65268476 65268476 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001024858.2 -1 reviewed p.H215N 1.000 398 0% 189 22.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology FUT8 2530 genome.wustl.edu 37 14 66083055 66083055 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178154.1 +1 reviewed p.A149V 0.988 260 0% 162 10.5% 6 33.3% benign(0) tolerated(1) - NULL GPHN 10243 genome.wustl.edu 37 14 67631904 67631904 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020806.4 +1 reviewed p.D646N 1.000 156 0% 97 25.8% 21 47.6% benign(0.006) tolerated(0.4) neutral(0.016) HMMPfam_MoCF_biosynth,superfamily_MoCF_biosynth GPHN 10243 genome.wustl.edu 37 14 67635749 67635749 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020806.4 +1 reviewed p.A692V 1.000 228 0% 130 12.3% 14 0% benign(0.094) tolerated(0.42) neutral(0.021) HMMPfam_MoeA_C,superfamily_MoeA_C GPHN 10243 genome.wustl.edu 37 14 67647646 67647646 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020806.4 +1 reviewed p.R768W 1.000 80 0% 53 24.5% 19 21% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_MoeA_C FAM71D 161142 genome.wustl.edu 37 14 67665007 67665007 + Silent SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173526.2 +1 validated p.S43 0.995 546 0% 333 18.9% 0 - - - - NULL MPP5 64398 genome.wustl.edu 37 14 67746178 67746178 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022474.2 +1 validated p.T97 1.000 282 0.4% 195 29.2% 14 64.2% - - - NULL ATP6V1D 51382 genome.wustl.edu 37 14 67817377 67817377 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015994.2 -1 reviewed p.E64* 1.000 139 0.7% 91 12.1% 61 1.6% - - - HMMPfam_ATP-synt_D TMEM229B 161145 genome.wustl.edu 37 14 67940636 67940636 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182526.2 -1 provisional p.A2V 0.995 15 0.000 7 0.571 2 100% benign(0.075) deleterious(0.02) neutral(0.388) NULL PLEKHH1 57475 genome.wustl.edu 37 14 68029026 68029026 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020715.2 +1 validated p.K226N 0.594 78 0% 42 31% 9 22.2% possibly_damaging(0.602) tolerated(0.12) deleterious(0.469) NULL ZFYVE26 23503 genome.wustl.edu 37 14 68249698 68249698 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015346.3 -1 reviewed p.L1391F 0.247 213 0% 131 29% 6 0% benign(0.214) deleterious(0.02) neutral(0.404) NULL ZFYVE26 23503 genome.wustl.edu 37 14 68249963 68249963 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015346.3 -1 reviewed p.S1302 0.844 223 0% 116 31.9% 10 30% - - - NULL ACTN1 87 genome.wustl.edu 37 14 69351509 69351509 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130004.1 -1 reviewed p.R493* 1.000 177 0% 97 26.8% 63 3.1% - - - HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin ACTN1 87 genome.wustl.edu 37 14 69392372 69392372 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130004.1 -1 reviewed p.C41 1.000 121 0% 65 32.3% 47 2.1% - - - PatternScan_ACTININ_1,HMMPfam_CH,HMMSmart_CH,superfamily_Calponin-homology DCAF5 8816 genome.wustl.edu 37 14 69619497 69619497 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003861.2 -1 validated p.Q67K 1.000 32 0% 20 45% 7 14.2% benign(0.001) tolerated(0.16) neutral(0.059) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 EXD2 55218 genome.wustl.edu 37 14 69704349 69704349 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018199.2 +1 provisional p.H325 1.000 131 0% 81 13.6% 31 29% - - - NULL SLC8A3 6547 genome.wustl.edu 37 14 70635060 70635060 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_183002.1 -1 reviewed p.G27D 1.000 157 0% 92 29.3% 0 - possibly_damaging(0.496) tolerated(0.26) neutral(0.200) NULL ENSG00000235812 0 genome.wustl.edu 37 14 70713701 70713701 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000433248 -1 known p.S56I 0.001 353 0% 219 22.4% 0 - - - - "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" SYNJ2BP 55333 genome.wustl.edu 37 14 70839815 70839815 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018373.2 -1 validated p.G111C 0.976 252 0.4% 161 27.3% 27 48.1% benign(0.192) tolerated(0.08) neutral(0.318) superfamily_PDZ ADAM21 8747 genome.wustl.edu 37 14 70925692 70925692 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003813.2 +1 reviewed p.D492 0.997 448 0% 243 25.9% 0 - - - - HMMPfam_ADAM_CR,HMMSmart_SM00608 ADAM20 8748 genome.wustl.edu 37 14 70991061 70991061 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003814.4 -1 reviewed p.I188M 0.957 419 0% 321 25.5% 0 - possibly_damaging(0.936) deleterious(0.05) deleterious(0.727) HMMPfam_Pep_M12B_propep MAP3K9 4293 genome.wustl.edu 37 14 71197583 71197583 + Splice_Site SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033141.2 -1 validated e13-2 1.000 44 0% 22 54.5% 0 - - - - - PCNX 22990 genome.wustl.edu 37 14 71444211 71444211 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014982.2 +1 validated p.C386Y 1.000 323 0% 172 34.9% 7 71.4% unknown(0) tolerated(0.33) - NULL PCNX 22990 genome.wustl.edu 37 14 71455352 71455352 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014982.2 +1 validated p.R794W 0.999 284 0% 125 31.2% 2 0% possibly_damaging(0.737) deleterious(0) deleterious(0.714) NULL PCNX 22990 genome.wustl.edu 37 14 71575562 71575562 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014982.2 +1 validated p.S2181 0.438 139 0% 78 28.2% 28 50% - - - NULL PCNX 22990 genome.wustl.edu 37 14 71575680 71575680 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014982.2 +1 validated p.A2221T 0.996 173 0% 85 30.6% 20 50% possibly_damaging(0.83) tolerated(0.48) neutral(0.326) NULL SIPA1L1 26037 genome.wustl.edu 37 14 72117175 72117175 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015556.1 +1 provisional p.R648* 1.000 421 0% 283 25.4% 8 25% - - - HMMPfam_Rap_GAP,superfamily_Rap/Ran-GAP (Pfam 02145) SIPA1L1 26037 genome.wustl.edu 37 14 72128131 72128131 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015556.1 +1 provisional p.H734 0.946 140 0% 107 23.4% 15 60% - - - HMMPfam_Rap_GAP,superfamily_Rap/Ran-GAP (Pfam 02145) SIPA1L1 26037 genome.wustl.edu 37 14 72200431 72200431 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015556.1 +1 provisional p.R1658H 0.610 93 0% 31 45.2% 31 58% benign(0.084) tolerated(0.16) neutral(0.066) NULL NUMB 8650 genome.wustl.edu 37 14 73743684 73743684 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005743.1 -1 reviewed p.P520S 0.974 51 0% 29 24.1% 79 27.8% benign(0.002) deleterious(0.01) neutral(0.406) NULL HEATR4 399671 genome.wustl.edu 37 14 73989255 73989255 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_203309.1 -1 provisional p.A154V 0.971 116 0% 51 21.6% 0 - probably_damaging(0.975) deleterious(0.04) deleterious(0.766) NULL ACOT2 10965 genome.wustl.edu 37 14 74035946 74035946 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006821.4 +1 validated p.M1T 0.005 214 0.5% 119 28.6% 19 42.1% unknown(0) - - NULL ACOT2 10965 genome.wustl.edu 37 14 74042125 74042125 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006821.4 +1 validated p.A454T 0.793 499 0% 293 17.7% 31 9.6% benign(0.263) deleterious(0.01) neutral(0.433) HMMPfam_BAAT_C,superfamily_alpha/beta-Hydrolases ACOT4 122970 genome.wustl.edu 37 14 74062326 74062326 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152331.3 +1 validated p.G412C 0.000 150 0% 73 24.7% 9 33.3% possibly_damaging(0.924) tolerated(0.06) deleterious(0.696) HMMPfam_BAAT_C ACOT6 641372 genome.wustl.edu 37 14 74086200 74086200 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001037162.1 +1 validated p.L94R 0.910 306 0% 147 15% 0 - benign(0.088) deleterious(0.01) neutral(0.412) HMMPfam_BAAT_C,superfamily_SSF53474 ENTPD5 957 genome.wustl.edu 37 14 74438596 74438596 + Missense_Mutation SNP C C G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001249.2 -1 reviewed p.G348A 1.000 826 0% 446 16.6% 12 41.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GDA1_CD39 C14orf45 80127 genome.wustl.edu 37 14 74523863 74523863 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025057.2 +1 validated p.Q494* 0.077 169 0% 105 30.5% 7 57.1% - - - NULL VSX2 338917 genome.wustl.edu 37 14 74711935 74711935 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182894.2 +1 reviewed p.V175I 1.000 106 0% 64 25% 0 - possibly_damaging(0.932) deleterious(0.01) deleterious(0.784) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like PROX2 283571 genome.wustl.edu 37 14 75329595 75329595 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080408.1 -1 provisional p.P315T 0.002 243 0.4% 130 30% 0 - probably_damaging(0.98) deleterious(0.03) deleterious(0.788) NULL RPS6KL1 83694 genome.wustl.edu 37 14 75376246 75376246 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031464.3 -1 validated p.G393C 1.000 30 0% 11 45.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Kinase_like,HMMPfam_Pkinase PGF 5228 genome.wustl.edu 37 14 75413455 75413455 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000405431 -1 known p.G197R 0.020 12 0.000 9 0.444 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL MLH3 27030 genome.wustl.edu 37 14 75509149 75509149 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001040108.1 -1 reviewed p.S1104 0.996 272 0% 153 35.9% 12 8.3% - - - NULL ZC2HC1C 79696 genome.wustl.edu 37 14 75537606 75537606 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024643.2 +1 validated p.S110 0.000 1181 0% 666 16.2% 2 0% - - - NULL TTLL5 23093 genome.wustl.edu 37 14 76165559 76165559 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015072.4 +1 reviewed p.W177* 1.000 185 0% 107 26.2% 5 20% - - - HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like TTLL5 23093 genome.wustl.edu 37 14 76249520 76249520 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015072.4 +1 reviewed p.K878T 0.998 586 0% 434 27.2% 18 50% probably_damaging(0.983) deleterious(0.02) deleterious(0.812) NULL AHSA1 10598 genome.wustl.edu 37 14 77928570 77928570 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012111.2 +1 validated p.S113 1.000 112 0% 59 27.1% 219 35.1% - - - HMMPfam_Aha1_N,superfamily_Activator of Hsp90 ATPase Aha1 AHSA1 10598 genome.wustl.edu 37 14 77935515 77935515 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012111.2 +1 validated p.R314W 1.000 161 0.6% 81 27.2% 305 45.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_AHSA1,superfamily_Bet v1-like ISM2 145501 genome.wustl.edu 37 14 77942418 77942418 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_199296.2 -1 reviewed p.S412 0.891 81 0% 44 13.6% 0 - - - - HMMPfam_AMOP,HMMSmart_SM00723 ISM2 145501 genome.wustl.edu 37 14 77948681 77948681 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_199296.2 -1 reviewed p.K319N 0.921 78 0% 41 26.8% 0 - possibly_damaging(0.707) tolerated(0.3) neutral(0.284) NULL SPTLC2 9517 genome.wustl.edu 37 14 78063721 78063721 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004863.2 -1 validated p.I45 0.997 216 0% 135 27.4% 13 30.7% - - - NULL SNW1 22938 genome.wustl.edu 37 14 78198920 78198920 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012245.2 -1 reviewed p.R267C 1.000 188 0% 101 35.6% 57 40.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SKIP_SNW ADCK1 57143 genome.wustl.edu 37 14 78392232 78392232 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020421.3 +1 validated p.A378 1.000 283 0% 181 11.6% 12 33.3% - - - NULL NRXN3 9369 genome.wustl.edu 37 14 79270142 79270142 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004796.4 +1 reviewed p.R369C 0.969 188 0% 128 29.7% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 NRXN3 9369 genome.wustl.edu 37 14 79454449 79454449 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004796.4 +1 reviewed p.S703Y 1.000 267 0% 171 30.4% 0 - probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_EGF,HMMSmart_EGF,superfamily_ConA_like_lec_gl FLRT2 23768 genome.wustl.edu 37 14 86089757 86089757 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013231.4 +1 reviewed p.G633 1.000 562 0.2% 284 23.9% 0 - - - - NULL GPR65 8477 genome.wustl.edu 37 14 88477276 88477277 + Frame_Shift_Ins INS - - T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003608.3 +1 validated p.P30fs 0.002:0.545 - - - - - - - - - superfamily_Family A G protein-coupled receptor-like KCNK10 54207 genome.wustl.edu 37 14 88652224 88652224 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138317.2 -1 reviewed p.R429 0.979 117 0% 58 17.2% 0 - - - - NULL ZC3H14 79882 genome.wustl.edu 37 14 89034493 89034493 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024824.4 +1 validated p.V64I 0.998 79 0% 45 11.1% 42 19% possibly_damaging(0.946) tolerated(0.18) neutral(0.446) NULL ZC3H14 79882 genome.wustl.edu 37 14 89075730 89075730 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024824.4 +1 validated p.V663A 0.075 160 0% 86 26.7% 157 49% benign(0.001) tolerated(0.45) neutral(0.012) NULL EML5 161436 genome.wustl.edu 37 14 89148307 89148307 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_183387.2 -1 validated p.S1017 1.000 401 0% 211 30.3% 1 0% - - - HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,PatternScan_WD_REPEATS_1,HMMPfam_WD40 EML5 161436 genome.wustl.edu 37 14 89181408 89181408 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_183387.2 -1 validated p.R440H 1.000 242 0% 163 26.4% 0 - benign(0.309) tolerated(0.2) neutral(0.146) superfamily_WD40 repeat-like EFCAB11 90141 genome.wustl.edu 37 14 90398890 90398890 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145231.2 -1 validated p.F100Y 1.000 163 0.6% 135 29.6% 22 54.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00054,superfamily_EF-hand KCNK13 56659 genome.wustl.edu 37 14 90651138 90651138 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022054.2 +1 reviewed p.R340C 1.000 120 0% 45 31.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL RPS6KA5 9252 genome.wustl.edu 37 14 91356870 91356870 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004755.2 -1 validated p.Y599 0.990 125 0% 102 29.4% 11 63.6% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase CCDC88C 440193 genome.wustl.edu 37 14 91780357 91780357 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080414.2 -1 validated p.E601D 0.992 75 0% 54 24.1% 5 40% benign(0.006) tolerated(0.31) neutral(0.027) NULL CCDC88C 440193 genome.wustl.edu 37 14 91782002 91782002 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080414.2 -1 validated p.A553T 1.000 57 0% 28 14.3% 13 46.1% possibly_damaging(0.521) tolerated(0.28) neutral(0.207) NULL CCDC88C 440193 genome.wustl.edu 37 14 91875074 91875074 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080414.2 -1 validated p.V67I 1.000 63 0% 29 34.5% 13 23% probably_damaging(0.986) tolerated(0.51) neutral(0.444) NULL SMEK1 55671 genome.wustl.edu 37 14 91931709 91931709 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032560.4 -1 validated p.R559H 1.000 313 0.3% 224 26.3% 53 39.6% probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL SMEK1 55671 genome.wustl.edu 37 14 91937313 91937313 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032560.4 -1 validated p.A497T 1.000 194 0% 110 33.6% 85 42.3% possibly_damaging(0.659) deleterious(0.05) deleterious(0.578) superfamily_ARM-type_fold TC2N 123036 genome.wustl.edu 37 14 92278758 92278758 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001128595.1 -1 validated p.P67S 1.000 338 0% 285 29.5% 40 60% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL FBLN5 10516 genome.wustl.edu 37 14 92349413 92349413 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006329.3 -1 reviewed p.D249 0.961 211 0% 112 27.7% 31 0% - - - HMMSmart_SM00179,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin FBLN5 10516 genome.wustl.edu 37 14 92403527 92403527 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006329.3 -1 reviewed p.T48I 1.000 91 0% 56 23.2% 18 0% benign(0.002) tolerated(0.37) neutral(0.019) HMMSmart_SM00179,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin TRIP11 9321 genome.wustl.edu 37 14 92441563 92441563 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004239.3 -1 reviewed p.R1804W 1.000 323 0% 208 22.6% 39 51.2% probably_damaging(0.985) deleterious(0) deleterious(0.877) NULL TRIP11 9321 genome.wustl.edu 37 14 92461859 92461859 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004239.3 -1 reviewed p.S1631 0.997 190 0% 128 32.8% 25 44% - - - NULL TRIP11 9321 genome.wustl.edu 37 14 92471539 92471539 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004239.3 -1 reviewed p.M927I 0.111 392 0% 266 27.8% 9 55.5% benign(0) tolerated(0.37) neutral(0.019) NULL CPSF2 53981 genome.wustl.edu 37 14 92601793 92601795 + In_Frame_Del DEL AGA AGA - novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017437.1 +1 validated p.E169in_frame_del 0.997:1.000:1.000 - - - - - - - - - superfamily_Metallo-hydrolase/oxidoreductase CPSF2 53981 genome.wustl.edu 37 14 92609415 92609415 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017437.1 +1 validated p.R306H 1.000 451 0% 249 29.3% 25 48% probably_damaging(0.987) deleterious(0.01) deleterious(0.842) NULL CPSF2 53981 genome.wustl.edu 37 14 92621571 92621571 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017437.1 +1 validated p.R449H 1.000 208 0% 127 24.4% 42 45.2% possibly_damaging(0.568) tolerated(0.14) neutral(0.444) NULL BTBD7 55727 genome.wustl.edu 37 14 93720045 93720045 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001002860.2 -1 validated p.A567D 1.000 557 0% 287 25.8% 5 20% probably_damaging(1) tolerated(0.18) deleterious(0.556) NULL UNC79 57578 genome.wustl.edu 37 14 94004423 94004423 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020818.3 +1 validated p.C227Y 1.000 69 0% 37 18.9% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL UNC79 57578 genome.wustl.edu 37 14 94039145 94039145 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020818.3 +1 validated p.A508T 1.000 537 0% 314 35.4% 0 - benign(0.247) deleterious(0.03) neutral(0.390) NULL ASB2 51676 genome.wustl.edu 37 14 94423270 94423270 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016150.3 -1 reviewed p.R3 1.000 47 0% 19 36.8% 0 - - - - NULL LINC00521 256369 genome.wustl.edu 37 14 94465965 94465965 + RNA SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NR_024182.1 +1 validated NULL 0.014 134 0% 72 29.2% 0 - - - - - OTUB2 78990 genome.wustl.edu 37 14 94510379 94510379 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_023112.3 +1 validated p.K94R 1.000 469 0% 205 31.2% 5 80% benign(0.059) deleterious(0) neutral(0.449) HMMPfam_Peptidase_C65,superfamily_Cysteine proteinases DDX24 57062 genome.wustl.edu 37 14 94526629 94526629 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020414.3 -1 reviewed p.D576E 1.000 278 0% 190 29.5% 110 51.8% benign(0.39) deleterious(0) deleterious(0.570) superfamily_SSF52540 DDX24 57062 genome.wustl.edu 37 14 94528677 94528677 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020414.3 -1 reviewed p.A337S 0.985 405 0% 283 26.1% 72 43% possibly_damaging(0.83) tolerated(0.07) deleterious(0.635) HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540 PPP4R4 57718 genome.wustl.edu 37 14 94696961 94696961 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_058237.1 +1 reviewed p.T111M 0.999 212 0% 173 17.9% 0 - possibly_damaging(0.92) deleterious(0.05) deleterious(0.716) superfamily_ARM repeat SERPINA2 390502 genome.wustl.edu 37 14 94832786 94832786 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000238576 -1 known p.V81M 0.038 37 0% 16 31.2% 0 - - - - HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins SERPINA12 145264 genome.wustl.edu 37 14 94964270 94964270 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173850.2 -1 provisional p.K155N 0.035 411 0% 248 10.9% 0 - benign(0.053) deleterious(0) neutral(0.448) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SERPINA5 5104 genome.wustl.edu 37 14 95057127 95057127 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000624.4 +1 validated p.S311F 0.963 306 0% 184 15.2% 195 0.5% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins SERPINA3 12 genome.wustl.edu 37 14 95088735 95088735 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001085.4 +1 reviewed p.N325 0.000 159 0% 68 25% 56 7.1% - - - HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins DICER1 23405 genome.wustl.edu 37 14 95590777 95590777 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030621.3 -1 reviewed p.I378F 0.989 197 0.5% 105 23.8% 5 40% benign(0.03) tolerated(0.74) neutral(0.003) superfamily_SSF52540 DICER1 23405 genome.wustl.edu 37 14 95595809 95595809 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030621.3 -1 reviewed p.R245K 1.000 300 0% 180 17.2% 7 0% probably_damaging(0.987) tolerated(0.32) neutral(0.461) HMMSmart_DEXDc,superfamily_SSF52540 DICER1 23405 genome.wustl.edu 37 14 95599668 95599668 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030621.3 -1 reviewed p.T43M 1.000 126 0% 77 20.8% 8 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_DEXDc,superfamily_SSF52540 BDKRB1 623 genome.wustl.edu 37 14 96730747 96730747 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000710.2 +1 reviewed p.R243H 0.000 63 0% 25 32% 0 - benign(0.003) tolerated(0.2) neutral(0.049) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ATG2B 55102 genome.wustl.edu 37 14 96752179 96752179 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018036.5 -1 validated p.T2050 0.590 174 0% 93 24.7% 12 25% - - - HMMPfam_ATG_C ATG2B 55102 genome.wustl.edu 37 14 96777592 96777592 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018036.5 -1 validated p.S1341 0.997 440 0% 254 22.4% 4 25% - - - NULL ATG2B 55102 genome.wustl.edu 37 14 96798976 96798976 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018036.5 -1 validated p.F408L 1.000 287 0% 160 10.6% 3 0% probably_damaging(0.987) tolerated(0.17) deleterious(0.495) NULL AK7 122481 genome.wustl.edu 37 14 96916193 96916193 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152327.2 +1 validated p.A309T 1.000 98 0% 47 10.6% 2 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL PAPOLA 10914 genome.wustl.edu 37 14 97014145 97014145 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032632.3 +1 validated p.A471T 1.000 136 0% 101 26.7% 109 52.2% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_PAP_RNA-bind,superfamily_PAP/Archaeal CCA-adding enzyme C-terminal domain VRK1 7443 genome.wustl.edu 37 14 97321598 97321598 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003384.2 +1 reviewed p.C205Y 1.000 183 0.5% 144 25.7% 21 52.3% possibly_damaging(0.878) deleterious(0) deleterious(0.786) superfamily_Kinase_like EML1 2009 genome.wustl.edu 37 14 100377834 100377834 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001008707.1 +1 reviewed p.G491D 1.000 240 0% 119 23.5% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_WD40,superfamily_WD40_like EML1 2009 genome.wustl.edu 37 14 100405613 100405613 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001008707.1 +1 reviewed p.G776 0.844 72 0% 44 22.7% 13 30.7% - - - superfamily_WD40_like DLK1 8788 genome.wustl.edu 37 14 101198442 101198442 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003836.5 +1 reviewed p.G109V 0.982 79 0% 37 37.8% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin RTL1 388015 genome.wustl.edu 37 14 101349302 101349302 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001134888.2 -1 reviewed p.Y608 0.001 52 0% 29 44.8% 0 - - - - superfamily_DNA/RNA polymerases MIR485 574436 genome.wustl.edu 37 14 101521810 101521810 + RNA SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000385292 +1 known NULL 1.000 116 0% 42 40.5% 0 - - - - - DIO3 1735 genome.wustl.edu 37 14 102028686 102028686 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001362.3 +1 reviewed p.L259 1.000 35 0% 18 55.6% 1 0% - - - HMMPfam_T4_deiodinase PPP2R5C 5527 genome.wustl.edu 37 14 102372806 102372806 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002719.3 +1 reviewed p.A364V 1.000 219 0% 121 34.7% 106 33.9% benign(0.001) tolerated(0.16) neutral(0.059) HMMPfam_B56,superfamily_ARM repeat DYNC1H1 1778 genome.wustl.edu 37 14 102478372 102478372 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001376.4 +1 reviewed p.S2260I 1.000 146 0% 81 30.9% 49 55.1% probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMSmart_AAA,HMMPfam_AAA_5,superfamily_SSF52540 DYNC1H1 1778 genome.wustl.edu 37 14 102507971 102507971 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001376.4 +1 reviewed p.L4001P 1.000 193 0% 82 28% 160 39.3% benign(0.088) deleterious(0.01) neutral(0.412) HMMPfam_Dynein_heavy DYNC1H1 1778 genome.wustl.edu 37 14 102508999 102508999 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001376.4 +1 reviewed p.R4143C 0.998 57 0% 24 25% 232 46.5% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Dynein_heavy DYNC1H1 1778 genome.wustl.edu 37 14 102514345 102514345 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001376.4 +1 reviewed p.R4400C 1.000 42 0% 26 38.5% 287 40.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Dynein_heavy WDR20 91833 genome.wustl.edu 37 14 102675425 102675425 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181291.1 +1 reviewed p.W306C 1.000 108 1.9% 66 31.8% 20 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 WDR20 91833 genome.wustl.edu 37 14 102675610 102675610 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181291.1 +1 reviewed p.R368Q 1.000 209 0% 113 16.8% 20 35% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 ZNF839 55778 genome.wustl.edu 37 14 102807752 102807752 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018335.3 +1 validated p.A674T 0.000 78 0% 37 27% 31 38.7% possibly_damaging(0.67) deleterious(0) deleterious(0.682) NULL TECPR2 9895 genome.wustl.edu 37 14 102873695 102873695 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014844.3 +1 validated p.T80 0.411 228 0.4% 144 22.2% 1 100% - - - HMMSmart_WD40,superfamily_WD40_like TECPR2 9895 genome.wustl.edu 37 14 102901436 102901436 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014844.3 +1 validated p.G761V 1.000 87 0% 36 27.8% 7 28.5% possibly_damaging(0.943) deleterious(0.01) deleterious(0.793) NULL TECPR2 9895 genome.wustl.edu 37 14 102916188 102916188 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014844.3 +1 validated p.A1100T 0.998 141 0% 69 27.5% 6 33.3% possibly_damaging(0.741) tolerated(0.21) neutral(0.316) NULL TECPR2 9895 genome.wustl.edu 37 14 102931491 102931491 + Missense_Mutation SNP G G C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014844.3 +1 validated p.L1218F 0.109 202 0% 97 26.8% 3 33.3% probably_damaging(0.966) tolerated(0.14) deleterious(0.657) HMMSmart_TECPR MARK3 4140 genome.wustl.edu 37 14 103925068 103925068 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000335102 +1 known p.C163Y 0.048 36 0% 20 20% 0 - benign(0) deleterious(0) neutral(0.445) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase MARK3 4140 genome.wustl.edu 37 14 103941507 103941507 + Missense_Mutation SNP C C T rs183634888 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001128918.1 +1 validated p.A481V 0.999 146 0% 93 24.7% 89 40.4% possibly_damaging(0.892) tolerated(0.09) deleterious(0.648) NULL MARK3 4140 genome.wustl.edu 37 14 103969323 103969323 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001128918.1 +1 validated p.D674G 1.000 84 0% 39 30.8% 85 42.3% benign(0.141) deleterious(0.03) neutral(0.377) superfamily_Kinase associated domain 1 KA1 TDRD9 122402 genome.wustl.edu 37 14 104493223 104493223 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153046.2 +1 validated p.V1077I 0.921 206 0% 125 31.2% 0 - benign(0) tolerated(0.81) neutral(0.001) NULL SIVA1 10572 genome.wustl.edu 37 14 105222956 105222956 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006427.3 +1 reviewed p.A110V 0.000 72 0% 32 40.6% 249 59.4% probably_damaging(0.959) tolerated(0.13) deleterious(0.655) HMMPfam_Siva AHNAK2 113146 genome.wustl.edu 37 14 105405653 105405653 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138420.2 -1 validated p.D5379Y 0.012 63 0% 28 32.1% 5 0% probably_damaging(0.992) tolerated(0.07) deleterious(0.766) NULL AHNAK2 113146 genome.wustl.edu 37 14 105414478 105414478 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138420.2 -1 validated p.V2437A 0.001 99 0% 44 22.7% 0 - unknown(0) deleterious(0.01) - NULL AHNAK2 113146 genome.wustl.edu 37 14 105418386 105418386 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138420.2 -1 validated p.E1134D 0.118 112 0% 58 13.8% 0 - benign(0.045) tolerated(0.27) neutral(0.036) NULL C14orf79 122616 genome.wustl.edu 37 14 105453067 105453067 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_174891.3 +1 validated p.L100P 0.000 59 0% 34 32.4% 12 58.3% probably_damaging(0.991) deleterious(0.03) deleterious(0.808) NULL BTBD6 90135 genome.wustl.edu 37 14 105716634 105716634 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033271.2 +1 validated p.Q286H 1.000 41 2.4% 22 31.8% 83 45.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PHR IGHE 3497 genome.wustl.edu 37 14 106067911 106067911 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000390541 -1 known p.T52N 0.000 111 0.9% 78 34.6% 0 - possibly_damaging(0.624) deleterious(0.04) deleterious(0.567) HMMPfam_C1-set,HMMSmart_IGc1,superfamily_SSF48726 IGHG2 3501 genome.wustl.edu 37 14 106110122 106110122 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000390545 -1 known p.A166T 0.007 982 0.1% 518 28.8% 68 0% possibly_damaging(0.935) tolerated(0.28) neutral(0.412) HMMPfam_C1-set,superfamily_SSF48726 IGHA1 3493 genome.wustl.edu 37 14 106174862 106174862 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000390547 -1 known p.G47 0.000 18 0% 11 36.4% 349 0% - - - HMMPfam_C1-set,HMMSmart_IGc1,superfamily_SSF48726 IGHM 3507 genome.wustl.edu 37 14 106321786 106321786 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000496208 -1 known p.R149C 0.000 71 0% 26 15.4% 4220 0.1% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_C1-set,HMMSmart_SM00407,superfamily_Immunoglobulin IGHV1-3 28473 genome.wustl.edu 37 14 106471667 106471667 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000390595 -1 known p.W5* 0.190 145 0% 73 15.1% 13 0% - - - NULL IGHV3-13 28449 genome.wustl.edu 37 14 106586575 106586575 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000390602 -1 known p.L5M 0.001 565 0% 369 11.4% 1 0% probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL IGHV3-16 28447 genome.wustl.edu 37 14 106621909 106621909 + Silent SNP C C T rs182423176 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000390604 -1 known p.V112 0.998 1094 0% 706 13.6% 0 - - - - HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 IGHV2-26 28455 genome.wustl.edu 37 14 106757861 106757861 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000390611 -1 known p.S49N 0.002 256 0% 134 23.9% 2 0% benign(0) tolerated(0.08) neutral(0.300) HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin IGHV3-30 28439 genome.wustl.edu 37 14 106791027 106791027 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000390613 -1 known p.T110M 1.000 1374 0% 743 12.1% 33 0% possibly_damaging(0.814) deleterious(0.05) deleterious(0.653) HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin IGHV4-39 28394 genome.wustl.edu 37 14 106878065 106878065 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000390619 -1 known p.M4I 0.000 156 0% 82 24.4% 23 0% benign(0) deleterious(0.04) neutral(0.349) NULL ENSG00000215407 0 genome.wustl.edu 37 15 20457361 20457361 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000400226 -1 known p.E176D 1.000 84 0% 57 21.1% 0 - - - - HMMPfam_BRO1 LOC646096 646096 genome.wustl.edu 37 15 20488772 20488772 + RNA SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XR_040858.2 +1 model NULL 1.000 471 0.2% 255 11.8% 0 - - - - - ENSG00000229584 0 genome.wustl.edu 37 15 21369348 21369348 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000450252 +1 known p.M1I 1.000 450 0.2% 268 18.7% 3 0% - - - NULL OR4M2 390538 genome.wustl.edu 37 15 22368606 22368606 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004719.2 +1 validated p.E11* 0.998 1205 0% 932 11.3% 0 - - - - superfamily_Family A G protein-coupled receptor-like OR4M2 390538 genome.wustl.edu 37 15 22368825 22368825 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004719.2 +1 validated p.D84Y 0.957 1345 0.3% 948 15.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TUBGCP5 114791 genome.wustl.edu 37 15 22855088 22855088 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001102610.1 +1 validated p.V517I 0.999 90 0% 52 11.5% 13 15.3% benign(0.058) tolerated(0.66) neutral(0.006) HMMPfam_Spc97_Spc98 TUBGCP5 114791 genome.wustl.edu 37 15 22866910 22866910 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001102610.1 +1 validated p.V809 1.000 84 0% 41 26.8% 3 0% - - - HMMPfam_Spc97_Spc98 CYFIP1 23191 genome.wustl.edu 37 15 22947062 22947062 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014608.2 +1 validated p.S445 0.975 226 0% 132 23.5% 63 49.2% - - - HMMPfam_FragX_IP CYFIP1 23191 genome.wustl.edu 37 15 22999494 22999494 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014608.2 +1 validated p.D1122 0.975 102 0% 33 18.2% 94 22.3% - - - HMMPfam_FragX_IP NIPA2 81614 genome.wustl.edu 37 15 23014445 23014445 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001008860.2 -1 reviewed p.L94 1.000 63 0% 50 14% 79 60.7% - - - HMMPfam_DUF803,superfamily_Multidrug resistance efflux transporter EmrE NIPA1 123606 genome.wustl.edu 37 15 23049034 23049034 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144599.4 -1 reviewed p.A262V 1.000 46 0% 31 35.5% 16 37.5% possibly_damaging(0.815) deleterious(0) deleterious(0.752) HMMPfam_DUF803 ENSG00000140181 0 genome.wustl.edu 37 15 23300044 23300044 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000454333 -1 known p.R78C 1.000 97 0% 42 26.2% 7 71.4% - - - NULL LOC283685 283685 genome.wustl.edu 37 15 23685583 23685583 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002343322.1 -1 model p.K610E 0.006 12 0% 10 40% 0 - - - - NULL MKRN3 7681 genome.wustl.edu 37 15 23811080 23811080 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005664.3 +1 reviewed p.A51T 0.000 42 0% 24 25% 0 - possibly_damaging(0.774) tolerated(0.22) neutral(0.330) NULL MKRN3 7681 genome.wustl.edu 37 15 23811248 23811248 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005664.3 +1 reviewed p.G107R 1.000 66 0% 28 28.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1 MAGEL2 54551 genome.wustl.edu 37 15 23889537 23889537 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019066.4 -1 reviewed p.S515N 1.000 118 0% 34 23.5% 0 - probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMPfam_MAGE C15orf2 23742 genome.wustl.edu 37 15 24921752 24921752 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018958.2 +1 reviewed p.A246 0.000 126 0% 70 22.9% 0 - - - - NULL ENSG00000206193 0 genome.wustl.edu 37 15 25327774 25327774 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000383025 +1 known p.D36N 0.000 95 0% 49 24.5% 7 0% - - - NULL UBE3A 7337 genome.wustl.edu 37 15 25616144 25616144 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000462.2 -1 reviewed p.D396Y 1.000 171 0% 111 31.5% 39 35.8% possibly_damaging(0.443) deleterious(0.02) deleterious(0.527) NULL ATP10A 57194 genome.wustl.edu 37 15 25924553 25924553 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024490.3 -1 reviewed p.R1479* 0.001 139 0% 67 35.8% 0 - - - - NULL ATP10A 57194 genome.wustl.edu 37 15 26026238 26026238 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024490.3 -1 reviewed p.H194 1.000 62 0% 37 18.9% 1 0% - - - HMMPfam_E1-E2_ATPase,superfamily_SSF81653 GABRG3 2567 genome.wustl.edu 37 15 27772615 27772615 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033223.4 +1 validated p.T301N 1.000 155 0.6% 82 11% 0 - possibly_damaging(0.858) tolerated(0.1) deleterious(0.617) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM OCA2 4948 genome.wustl.edu 37 15 28202845 28202845 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000275.2 -1 reviewed p.A558D 0.954 41 0% 31 22.6% 0 - probably_damaging(0.999) tolerated(0.13) deleterious(0.743) HMMPfam_CitMHS HERC2 8924 genome.wustl.edu 37 15 28361966 28361966 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004667.4 -1 reviewed p.S4485F 1.000 48 0% 18 38.9% 13 15.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain HERC2 8924 genome.wustl.edu 37 15 28375324 28375324 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004667.4 -1 reviewed p.C4263R 1.000 254 0% 130 21.5% 16 56.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_RCC1,superfamily_RCC1/BLIP-II HERC2 8924 genome.wustl.edu 37 15 28389267 28389267 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004667.4 -1 reviewed p.R3752H 1.000 163 0% 88 30.7% 13 38.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL HERC2 8924 genome.wustl.edu 37 15 28389335 28389335 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004667.4 -1 reviewed p.S3729 0.996 130 0.8% 93 28% 18 50% - - - NULL HERC2 8924 genome.wustl.edu 37 15 28446668 28446668 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004667.4 -1 reviewed p.T2550 0.215 355 0.3% 206 23.3% 5 0% - - - NULL HERC2 8924 genome.wustl.edu 37 15 28459411 28459411 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004667.4 -1 reviewed p.T2122 0.011 94 1.1% 34 26.5% 4 100% - - - NULL HERC2 8924 genome.wustl.edu 37 15 28478848 28478848 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004667.4 -1 reviewed p.R1438H 1.000 312 0% 196 28.1% 6 16.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL HERC2 8924 genome.wustl.edu 37 15 28491887 28491887 + Splice_Site SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004667.4 -1 reviewed e21+1 1.000 253 0% 127 21.3% 1 100% - - - - HERC2 8924 genome.wustl.edu 37 15 28525247 28525247 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004667.4 -1 reviewed p.S170N 0.866 192 0.5% 122 18% 1 0% benign(0) tolerated(0.68) neutral(0.002) NULL ENSG00000206149 0 genome.wustl.edu 37 15 28901022 28901022 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000383034 +1 known p.G91 0.926 90 0% 34 17.6% 4 50% - - - NULL LOC653720 653720 genome.wustl.edu 37 15 28947677 28947677 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_001724258.2 -1 model p.G501S 0.998 100 1% 53 15.1% 0 - - - - NULL APBA2 321 genome.wustl.edu 37 15 29346863 29346863 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005503.3 +1 reviewed p.E259G 0.221 58 0% 33 36.4% 18 50% benign(0) tolerated(1) - NULL TJP1 7082 genome.wustl.edu 37 15 30010693 30010693 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003257.3 -1 validated p.H1218R 0.078 108 0% 77 26% 81 48.1% benign(0.086) deleterious(0.04) neutral(0.355) NULL TRPM1 4308 genome.wustl.edu 37 15 31352791 31352791 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002420.4 -1 reviewed p.D385Y 1.000 141 0% 61 24.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL LOC283711 283711 genome.wustl.edu 37 15 31712372 31712372 + RNA SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XR_040656.2 +1 model NULL 0.000 40 0% 35 25.7% 0 - - - - - CHRNA7 1139 genome.wustl.edu 37 15 32450726 32450726 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000746.3 +1 reviewed p.L238 1.000 232 0% 105 12.4% 0 - - - - HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM FMN1 342184 genome.wustl.edu 37 15 33300218 33300218 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001103184.2 -1 validated p.L517 0.988 42 0% 31 19.4% 6 66.6% - - - NULL RYR3 6263 genome.wustl.edu 37 15 33831620 33831620 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001036.3 +1 validated p.G168D 1.000 57 0% 35 20% 0 - probably_damaging(1) - - HMMPfam_Ins145_P3_rec,HMMSmart_SM00472 RYR3 6263 genome.wustl.edu 37 15 33873798 33873798 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001036.3 +1 validated p.S509 0.774 459 0% 259 25.1% 0 - - - - HMMPfam_RYDR_ITPR RYR3 6263 genome.wustl.edu 37 15 33936603 33936603 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001036.3 +1 validated p.C1216 0.135 51 2% 24 29.2% 0 - - - - NULL RYR3 6263 genome.wustl.edu 37 15 34109092 34109092 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001036.3 +1 validated p.G3511V 1.000 59 0% 36 22.2% 0 - benign(0.05) - - NULL RYR3 6263 genome.wustl.edu 37 15 34110783 34110783 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001036.3 +1 validated p.S3535Y 0.998 42 0% 39 10.3% 0 - benign(0.107) - - NULL RYR3 6263 genome.wustl.edu 37 15 34117859 34117859 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001036.3 +1 validated p.V3710L 1.000 237 0% 131 23.7% 1 0% possibly_damaging(0.649) - - NULL RYR3 6263 genome.wustl.edu 37 15 34130299 34130299 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001036.3 +1 validated p.K4040Q 1.000 278 0% 158 28.5% 0 - benign(0.148) - - NULL RYR3 6263 genome.wustl.edu 37 15 34137145 34137145 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001036.3 +1 validated p.A4460V 0.991 198 0% 89 20.2% 0 - benign(0.062) - - HMMPfam_RR_TM4-6 RYR3 6263 genome.wustl.edu 37 15 34147053 34147053 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001036.3 +1 validated p.I4649 0.976 603 0% 289 27.7% 0 - - - - HMMPfam_Ion_trans C15orf55 256646 genome.wustl.edu 37 15 34646035 34646035 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175741.1 +1 validated p.P318H 0.623 236 0% 126 28.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL C15orf55 256646 genome.wustl.edu 37 15 34648680 34648680 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175741.1 +1 validated p.A796V 0.010 198 0% 116 31.9% 0 - benign(0.009) tolerated(0.69) neutral(0.003) NULL ACTC1 70 genome.wustl.edu 37 15 35084711 35084711 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005159.4 -1 reviewed p.A172T 1.000 167 0% 102 19.6% 1 0% benign(0.264) - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain ACTC1 70 genome.wustl.edu 37 15 35086974 35086974 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005159.4 -1 reviewed p.C12 1.000 60 0% 21 23.8% 0 - - - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain AQR 9716 genome.wustl.edu 37 15 35149048 35149048 + Missense_Mutation SNP G G T rs61741130 byCluster;byFrequency;by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014691.2 -1 validated p.P1468Q 0.000 126 0% 76 25% 74 40.5% unknown(0) tolerated(0.35) - NULL AQR 9716 genome.wustl.edu 37 15 35174841 35174841 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014691.2 -1 validated e27-1 1.000 247 0% 164 14.6% 0 - - - - - ZNF770 54989 genome.wustl.edu 37 15 35274886 35274886 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014106.2 -1 validated p.K250N 0.388 102 0% 47 23.4% 19 42.1% benign(0.008) tolerated(0.3) neutral(0.029) NULL MEIS2 4212 genome.wustl.edu 37 15 37390284 37390284 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_170675.2 -1 reviewed p.P43 1.000 20 0% 15 33.3% 11 45.4% - - - NULL RASGRP1 10125 genome.wustl.edu 37 15 38786620 38786620 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005739.3 -1 reviewed p.R741H 0.222 82 0% 85 29.4% 2 0% benign(0.003) deleterious(0) neutral(0.445) NULL RASGRP1 10125 genome.wustl.edu 37 15 38791088 38791088 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005739.3 -1 reviewed p.R594* 1.000 434 0% 264 31.4% 1 0% - - - HMMPfam_C1_1,superfamily_Cysteine-rich domain RASGRP1 10125 genome.wustl.edu 37 15 38852035 38852035 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005739.3 -1 reviewed p.C69 1.000 87 0% 48 22.9% 0 - - - - HMMPfam_RasGEF_N,HMMSmart_SM00229,superfamily_Ras GEF C15orf53 400359 genome.wustl.edu 37 15 38990521 38990521 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207444.2 +1 validated p.W105C 0.001 264 0% 135 15.6% 0 - benign(0.002) - - NULL THBS1 7057 genome.wustl.edu 37 15 39885703 39885703 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003246.2 +1 reviewed p.R1034H 1.000 392 0.3% 204 27% 63 11.1% probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_TSP_C,superfamily_Concanavalin A-like lectins/glucanases BMF 90427 genome.wustl.edu 37 15 40398072 40398072 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001003940.1 -1 reviewed p.T72 0.997 136 0% 58 31% 12 33.3% - - - NULL PAK6 56924 genome.wustl.edu 37 15 40558136 40558136 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001128628.1 +1 reviewed p.L100M 1.000 6 0.000 8 0.500 10 10% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL PAK6 56924 genome.wustl.edu 37 15 40565649 40565649 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001128628.1 +1 reviewed p.S531 1.000 18 0% 19 31.6% 12 16.6% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PLCB2 5330 genome.wustl.edu 37 15 40589026 40589026 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004573.2 -1 validated p.G469 0.000 83 0% 38 13.2% 0 - - - - superfamily_PLC-like phosphodiesterases C15orf52 388115 genome.wustl.edu 37 15 40632175 40632175 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207380.2 -1 validated p.K62N 0.999 55 0% 24 33.3% 1 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL IVD 3712 genome.wustl.edu 37 15 40703814 40703814 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002225.3 +1 reviewed p.V204A 1.000 133 0% 60 28.3% 19 57.8% benign(0.037) deleterious(0.01) neutral(0.408) HMMPfam_Acyl-CoA_dh_M,superfamily_AcylCoA_dehyd_NM CASC5 57082 genome.wustl.edu 37 15 40914766 40914766 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_170589.3 +1 validated p.H794 0.915 146 0% 57 24.6% 4 25% - - - NULL CASC5 57082 genome.wustl.edu 37 15 40916720 40916720 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_170589.3 +1 validated p.R1446 0.207 310 0% 202 28.2% 8 50% - - - NULL CASC5 57082 genome.wustl.edu 37 15 40917792 40917792 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_170589.3 +1 validated p.I1803S 0.984 142 0% 87 23% 7 28.5% possibly_damaging(0.873) deleterious(0) deleterious(0.784) NULL CASC5 57082 genome.wustl.edu 37 15 40920330 40920330 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_170589.3 +1 validated p.N1839 0.850 231 0% 163 35.6% 8 25% - - - NULL FAM82A2 55177 genome.wustl.edu 37 15 41037247 41037247 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018145.1 -1 provisional p.A245 0.000 112 0% 50 30% 40 40% - - - NULL DNAJC17 55192 genome.wustl.edu 37 15 41068739 41068739 + Splice_Site SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018163.2 -1 validated e5+1 1.000 65 0% 37 43.2% 0 - - - - - VPS18 57617 genome.wustl.edu 37 15 41195414 41195414 + Nonsense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020857.2 +1 reviewed p.K933* 1.000 23 0% 15 40% 27 25.9% - - - NULL INO80 54617 genome.wustl.edu 37 15 41347546 41347546 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017553.1 -1 reviewed p.H696R 1.000 177 0% 106 35.8% 21 42.8% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases EXD1 161829 genome.wustl.edu 37 15 41476587 41476587 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152596.2 -1 provisional p.D363Y 0.000 620 0% 380 27.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL RPAP1 26015 genome.wustl.edu 37 15 41817324 41817324 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015540.2 -1 reviewed p.S647N 1.000 70 0% 33 42.4% 27 33.3% benign(0.218) tolerated(0.35) neutral(0.042) NULL RPAP1 26015 genome.wustl.edu 37 15 41819136 41819136 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015540.2 -1 reviewed p.R626H 0.987 270 0% 154 28.6% 17 41.1% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MGA 23269 genome.wustl.edu 37 15 42046766 42046766 + Splice_Site SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080541.2 +1 validated e17+1 0.996 49 0% 31 38.7% 0 - - - - - MGA 23269 genome.wustl.edu 37 15 42058517 42058517 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080541.2 +1 validated p.K2795T 0.986 119 0% 62 35.5% 6 66.6% benign(0.273) deleterious(0) deleterious(0.474) NULL MAPKBP1 23005 genome.wustl.edu 37 15 42104263 42104263 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001128608.1 +1 validated p.A146T 0.953 136 0% 57 31.6% 2 50% benign(0.01) tolerated(0.43) neutral(0.014) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 MAPKBP1 23005 genome.wustl.edu 37 15 42113808 42113808 + Silent SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001128608.1 +1 validated p.A921 0.016 332 0% 159 30.2% 2 0% - - - NULL JMJD7-PLA2G4B 8681 genome.wustl.edu 37 15 42127061 42127061 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005090.3 +1 validated p.A63V 1.000 84 0% 50 46% 14 42.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Clavaminate synthase-like PLA2G4D 283748 genome.wustl.edu 37 15 42364559 42364559 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178034.3 -1 validated p.A450V 0.218 175 0% 103 24.3% 0 - benign(0.238) tolerated(0.06) neutral(0.347) HMMPfam_PLA2_B,HMMSmart_SM00022,superfamily_FabD/lysophospholipase-like PLA2G4D 283748 genome.wustl.edu 37 15 42377688 42377688 + Splice_Site SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178034.3 -1 validated e5+1 0.984 188 0% 70 21.4% 0 - - - - - PLA2G4F 255189 genome.wustl.edu 37 15 42434305 42434305 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_213600.3 -1 validated p.P809 0.000 168 0% 74 29.7% 1 0% - - - superfamily_FabD/lysophospholipase-like GANC 2595 genome.wustl.edu 37 15 42631878 42631878 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198141.2 +1 reviewed p.G619R 1.000 388 0% 260 26.9% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases GANC 2595 genome.wustl.edu 37 15 42643564 42643564 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198141.2 +1 reviewed p.V857M 1.000 273 0% 158 24.7% 4 0% benign(0.058) tolerated(0.1) neutral(0.290) NULL CAPN3 825 genome.wustl.edu 37 15 42691702 42691702 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000070.2 +1 reviewed p.E402 0.758 80 0% 64 26.6% 5 40% - - - HMMPfam_Peptidase_C2,HMMSmart_SM00230,superfamily_Cysteine proteinases TTBK2 146057 genome.wustl.edu 37 15 43067334 43067334 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173500.3 -1 reviewed p.A666V 1.000 546 0% 334 29.9% 0 - possibly_damaging(0.521) deleterious(0.02) deleterious(0.558) NULL TTBK2 146057 genome.wustl.edu 37 15 43093269 43093269 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000263802 -1 known p.G638 0.935 140 0% 71 18.3% 0 - - - - NULL UBR1 197131 genome.wustl.edu 37 15 43250252 43250252 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_174916.2 -1 reviewed p.P1598 1.000 360 0% 234 26.1% 11 36.3% - - - NULL CCNDBP1 23582 genome.wustl.edu 37 15 43483732 43483732 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012142.3 +1 reviewed p.L240R 1.000 110 0% 69 24.6% 61 47.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL TGM5 9333 genome.wustl.edu 37 15 43527978 43527978 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_201631.3 -1 reviewed p.S468I 0.001 239 0% 95 28.4% 0 - benign(0) tolerated(0.08) neutral(0.300) NULL TGM5 9333 genome.wustl.edu 37 15 43531158 43531158 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_201631.3 -1 reviewed p.A401V 0.996 135 0% 63 30.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Cysteine proteinases LCMT2 9836 genome.wustl.edu 37 15 43620639 43620639 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014793.3 -1 reviewed p.S683 0.022 152 0% 115 27.8% 17 94.1% - - - NULL LCMT2 9836 genome.wustl.edu 37 15 43621484 43621484 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014793.3 -1 reviewed p.G402S 0.910 130 0% 72 22.2% 13 0% probably_damaging(0.995) tolerated(0.49) neutral(0.468) NULL ADAL 161823 genome.wustl.edu 37 15 43641136 43641136 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001012969.2 +1 validated p.L222P 0.990 242 0.4% 124 33.9% 6 83.3% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_A_deaminase,superfamily_SSF51556 ZSCAN29 146050 genome.wustl.edu 37 15 43653547 43653547 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152455.3 -1 validated p.P761 0.999 390 0% 199 54.8% 15 100% - - - superfamily_C2H2 and C2HC zinc fingers TP53BP1 7158 genome.wustl.edu 37 15 43714112 43714112 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001141980.1 -1 validated p.S1347 0.983 236 0% 141 33.3% 21 14.2% - - - NULL TP53BP1 7158 genome.wustl.edu 37 15 43738609 43738609 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001141980.1 -1 validated p.E1006* 1.000 303 0.3% 135 31.9% 9 22.2% - - - NULL MAP1A 4130 genome.wustl.edu 37 15 43814661 43814661 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002373.5 +1 reviewed p.A330 0.001 69 0% 35 20% 0 - - - - NULL MAP1A 4130 genome.wustl.edu 37 15 43820902 43820902 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002373.5 +1 reviewed p.Q2411* 0.668 34 0% 19 31.6% 2 0% - - - NULL STRC 161497 genome.wustl.edu 37 15 43906624 43906624 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153700.2 -1 reviewed p.Q728 1.000 113 0% 64 23.4% 1 0% - - - NULL CATSPER2 117155 genome.wustl.edu 37 15 43939566 43939566 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_172095.1 -1 reviewed p.R82M 0.011 138 0% 75 29.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL STRC 161497 genome.wustl.edu 37 15 43999847 43999847 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000381686 -1 known p.S1197P 0.991 186 0% 82 24.4% 0 - - - - NULL PDIA3 2923 genome.wustl.edu 37 15 44046059 44046059 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005313.4 +1 reviewed p.A69T 1.000 125 0% 71 31% 864 46.1% benign(0.002) tolerated(0.17) neutral(0.059) superfamily_Thioredoxin-like,HMMPfam_Thioredoxin ELL3 80237 genome.wustl.edu 37 15 44068247 44068247 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025165.2 -1 validated p.R91C 0.057 85 0% 40 30% 14 7.1% benign(0.007) tolerated(0.19) neutral(0.050) HMMPfam_ELL MFAP1 4236 genome.wustl.edu 37 15 44106874 44106874 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005926.2 -1 validated p.R148W 1.000 213 0% 103 27.2% 33 24.2% unknown(0) deleterious(0.04) - NULL SPG11 80208 genome.wustl.edu 37 15 44861635 44861635 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025137.3 -1 reviewed p.K2182N 0.851 24 0% 17 23.5% 35 14.2% probably_damaging(0.976) tolerated(1) neutral(0.418) NULL SPG11 80208 genome.wustl.edu 37 15 44890929 44890929 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025137.3 -1 reviewed p.D1264 1.000 255 0% 147 27.9% 13 23% - - - NULL DUOX1 53905 genome.wustl.edu 37 15 45443343 45443343 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017434.3 +1 reviewed p.R971C 0.081 302 0% 140 30% 6 16.6% possibly_damaging(0.493) tolerated(0.05) deleterious(0.510) NULL DUOX1 53905 genome.wustl.edu 37 15 45454417 45454417 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017434.3 +1 reviewed p.L1364M 1.000 232 0% 97 35.1% 5 60% probably_damaging(0.974) deleterious(0.01) deleterious(0.822) HMMPfam_FAD_binding_8,superfamily_Riboflavin synthase domain-like SLC28A2 9153 genome.wustl.edu 37 15 45554266 45554266 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004212.3 +1 validated p.S75I 0.000 287 0% 192 28.1% 0 - benign(0.012) tolerated(0.16) neutral(0.060) NULL SPATA5L1 79029 genome.wustl.edu 37 15 45697580 45697580 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024063.2 +1 validated p.K384N 0.994 154 0% 79 30.4% 15 6.6% benign(0.001) tolerated(1) - HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases HMGN2P46 283651 genome.wustl.edu 37 15 45847883 45847883 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000313559 +1 known p.G78E 0.969 354 0% 239 31% 0 - - - - NULL SEMA6D 80031 genome.wustl.edu 37 15 48056069 48056069 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153618.1 +1 reviewed p.R257H 1.000 628 0.2% 527 29.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain SEMA6D 80031 genome.wustl.edu 37 15 48057216 48057216 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153618.1 +1 reviewed p.V464I 0.980 324 0% 214 32.2% 0 - benign(0.343) tolerated(0.35) neutral(0.129) HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain SEMA6D 80031 genome.wustl.edu 37 15 48062764 48062764 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153618.1 +1 reviewed p.V668 1.000 444 0% 347 25.1% 1 100% - - - NULL SEMA6D 80031 genome.wustl.edu 37 15 48062914 48062914 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153618.1 +1 reviewed p.N718 1.000 484 0% 314 30.9% 0 - - - - NULL SLC24A5 283652 genome.wustl.edu 37 15 48434312 48434312 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_205850.2 +1 reviewed p.A423T 1.000 514 0.2% 339 28.9% 32 40.6% benign(0.021) tolerated(0.24) neutral(0.038) HMMPfam_Na_Ca_ex MYEF2 50804 genome.wustl.edu 37 15 48444099 48444099 + Silent SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016132.3 -1 validated p.G393 1.000 476 0% 416 30.8% 23 52.1% - - - NULL FBN1 2200 genome.wustl.edu 37 15 48797345 48797345 + Splice_Site SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000138.4 -1 reviewed e15-1 1.000 239 0% 189 29.1% 0 - - - - - CEP152 22995 genome.wustl.edu 37 15 49030644 49030644 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014985.2 -1 provisional p.T1589 0.000 761 0% 478 27.8% 4 50% - - - NULL CEP152 22995 genome.wustl.edu 37 15 49031038 49031038 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014985.2 -1 provisional p.P1458H 0.000 497 0% 311 12.5% 6 16.6% benign(0.004) deleterious(0.03) neutral(0.364) NULL CEP152 22995 genome.wustl.edu 37 15 49034285 49034285 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014985.2 -1 provisional p.R1227H 1.000 303 0% 165 29.7% 6 33.3% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL CEP152 22995 genome.wustl.edu 37 15 49037093 49037093 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014985.2 -1 provisional p.R1188M 1.000 157 0% 110 29.1% 2 50% probably_damaging(0.991) deleterious(0.05) deleterious(0.789) NULL CEP152 22995 genome.wustl.edu 37 15 49073446 49073446 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014985.2 -1 provisional p.S508 0.095 328 0% 206 34.5% 0 - - - - NULL CEP152 22995 genome.wustl.edu 37 15 49083446 49083446 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014985.2 -1 provisional p.V320 0.975 225 0% 129 23.3% 1 0% - - - NULL EID1 23741 genome.wustl.edu 37 15 49170673 49170673 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014335.2 +1 validated p.E100D 0.998 131 0.8% 43 32.6% 187 43.8% possibly_damaging(0.942) tolerated(0.49) neutral(0.398) NULL GALK2 2585 genome.wustl.edu 37 15 49575904 49575904 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002044.2 +1 reviewed p.L249M 1.000 468 0.2% 295 32.5% 61 63.9% probably_damaging(0.98) deleterious(0.01) deleterious(0.830) superfamily_SSF55060 ATP8B4 79895 genome.wustl.edu 37 15 50189645 50189645 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024837.2 -1 validated p.S847 0.139 612 0.3% 421 28.3% 6 50% - - - superfamily_SSF56784,superfamily_SSF81665 HDC 3067 genome.wustl.edu 37 15 50534548 50534548 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002112.2 -1 validated p.L633P 0.982 276 0.4% 175 25.1% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL USP8 9101 genome.wustl.edu 37 15 50769531 50769531 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001128610.1 +1 validated p.T351 0.319 243 0% 167 28.7% 21 42.8% - - - NULL AP4E1 23431 genome.wustl.edu 37 15 51290003 51290003 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007347.3 +1 validated p.V943I 1.000 293 0% 202 32.7% 1 0% benign(0.002) tolerated(0.18) neutral(0.056) HMMPfam_Coatamer_beta_C DMXL2 23312 genome.wustl.edu 37 15 51747401 51747401 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015263.3 -1 validated p.F2829V 1.000 141 0% 79 27.8% 9 33.3% possibly_damaging(0.659) tolerated(0.5) neutral(0.243) HMMSmart_SM00320,superfamily_WD40 repeat-like DMXL2 23312 genome.wustl.edu 37 15 51773810 51773810 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015263.3 -1 validated p.K1831 0.995 202 0% 104 29.8% 7 28.5% - - - NULL DMXL2 23312 genome.wustl.edu 37 15 51791647 51791647 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015263.3 -1 validated p.G1258 0.938 698 0% 513 27.1% 9 44.4% - - - HMMSmart_SM00320 DMXL2 23312 genome.wustl.edu 37 15 51791860 51791860 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015263.3 -1 validated p.V1187 0.722 351 0% 173 28.3% 1 100% - - - NULL DMXL2 23312 genome.wustl.edu 37 15 51828413 51828413 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015263.3 -1 validated p.A755V 1.000 684 0% 484 12.6% 2 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00320 TMOD2 29767 genome.wustl.edu 37 15 52100647 52100647 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014548.3 +1 reviewed p.R351M 0.878 175 0% 118 21.2% 2 0% possibly_damaging(0.691) deleterious(0.01) deleterious(0.653) NULL TMOD3 29766 genome.wustl.edu 37 15 52186103 52186103 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014547.4 +1 validated p.N196 1.000 345 0% 198 26.3% 57 49.1% - - - HMMPfam_Tropomodulin,superfamily_SSF52047 MYO5C 55930 genome.wustl.edu 37 15 52504055 52504055 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018728.2 -1 validated p.N1390D 1.000 204 0% 116 37.1% 18 50% probably_damaging(0.995) tolerated(0.57) neutral(0.464) NULL MYO5C 55930 genome.wustl.edu 37 15 52515742 52515742 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018728.2 -1 validated p.M1209T 1.000 237 0% 142 16.9% 26 30.7% benign(0.045) tolerated(0.57) neutral(0.009) NULL MYO5A 4644 genome.wustl.edu 37 15 52672036 52672036 + Silent SNP C C T rs193027836 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000259.3 -1 reviewed p.A694 0.445 220 0% 117 25.6% 2 0% - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases WDR72 256764 genome.wustl.edu 37 15 53992017 53992017 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182758.2 -1 validated p.W565* 1.000 473 0% 253 28.9% 2 0% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 WDR72 256764 genome.wustl.edu 37 15 54003598 54003598 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182758.2 -1 validated p.I264 0.964 227 0% 126 28.6% 1 0% - - - superfamily_WD40 repeat-like UNC13C 440279 genome.wustl.edu 37 15 54307578 54307578 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080534.1 +1 provisional p.G826 0.996 214 0% 169 27.8% 0 - - - - NULL UNC13C 440279 genome.wustl.edu 37 15 54307686 54307686 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080534.1 +1 provisional p.E862D 1.000 302 0% 229 26.2% 0 - benign(0) deleterious(0) neutral(0.445) NULL UNC13C 440279 genome.wustl.edu 37 15 54625995 54625995 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080534.1 +1 provisional p.L1509M 1.000 117 0% 90 23.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CCPG1 9236 genome.wustl.edu 37 15 55652011 55652011 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004748.3 -1 validated p.D654N 0.999 157 0% 107 28% 61 47.5% benign(0.103) tolerated(0.39) neutral(0.024) NULL PRTG 283659 genome.wustl.edu 37 15 55912367 55912367 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173814.4 -1 validated p.T1099I 0.976 249 0% 190 13.7% 0 - benign(0.167) deleterious(0.02) neutral(0.398) NULL NEDD4 4734 genome.wustl.edu 37 15 56132688 56132688 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198400.2 -1 validated p.M1010T 1.000 168 0% 112 22.3% 3 33.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT RFX7 64864 genome.wustl.edu 37 15 56387601 56387601 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022841.5 -1 validated p.G775 1.000 339 0.9% 235 28.9% 6 50% - - - NULL RFX7 64864 genome.wustl.edu 37 15 56387724 56387724 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022841.5 -1 validated p.S734 0.002 312 0% 232 33.6% 7 57.1% - - - NULL RFX7 64864 genome.wustl.edu 37 15 56388251 56388251 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022841.5 -1 validated p.A559T 0.066 110 0.9% 70 18.6% 6 33.3% benign(0) tolerated(0.99) - NULL ZNF280D 54816 genome.wustl.edu 37 15 56923785 56923785 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017661.2 -1 validated p.S951P 0.583 296 0% 217 30% 9 33.3% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL TCF12 6938 genome.wustl.edu 37 15 57565423 57565423 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207036.1 +1 reviewed p.A647 0.989 353 0% 199 23.6% 64 54.6% - - - HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic CGNL1 84952 genome.wustl.edu 37 15 57839562 57839562 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032866.3 +1 validated p.K1261N 0.933 215 0.5% 115 29.6% 10 40% benign(0.004) tolerated(0.29) neutral(0.029) NULL HSP90AB4P 664618 genome.wustl.edu 37 15 58983326 58983326 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000380522 -1 known p.R498 1.000 202 0% 117 26.5% 0 - - - - HMMPfam_HSP90,superfamily_SSF110942 RNF111 54778 genome.wustl.edu 37 15 59359083 59359083 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017610.6 +1 reviewed p.A496V 0.463 557 0.2% 405 27.4% 23 39.1% benign(0.001) tolerated(0.45) neutral(0.012) NULL MYO1E 4643 genome.wustl.edu 37 15 59455405 59455405 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004998.2 -1 validated p.R860C 1.000 129 0% 69 31.9% 21 57.1% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Myosin_TH1 FAM81A 145773 genome.wustl.edu 37 15 59752243 59752243 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152450.2 +1 validated p.T44 0.018 251 0% 156 30.1% 6 66.6% - - - NULL BNIP2 663 genome.wustl.edu 37 15 59971908 59971908 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004330.2 -1 reviewed p.L181M 1.000 82 0% 55 14.5% 33 12.1% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL ANXA2 302 genome.wustl.edu 37 15 60646357 60646357 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001002858.2 -1 reviewed p.A213D 1.000 92 0% 52 11.5% 835 12% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Annexin,HMMPfam_Annexin NARG2 79664 genome.wustl.edu 37 15 60748860 60748860 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024611.4 -1 validated p.A221V 0.225 124 0.8% 112 22.3% 12 75% benign(0) tolerated(0.77) neutral(0.001) NULL RORA 6095 genome.wustl.edu 37 15 60803735 60803735 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_134260.2 -1 reviewed p.R203 0.058 181 0% 92 33.7% 5 0% - - - NULL VPS13C 54832 genome.wustl.edu 37 15 62208031 62208031 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020821.1 -1 validated p.T2749M 0.977 206 0% 153 11.1% 10 10% benign(0) tolerated(0.26) neutral(0.034) HMMPfam_DUF1162 VPS13C 54832 genome.wustl.edu 37 15 62211501 62211501 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020821.1 -1 validated p.R2542H 0.996 246 0% 137 17.5% 7 28.5% probably_damaging(1) tolerated(0.37) deleterious(0.519) NULL ENSG00000166104 0 genome.wustl.edu 37 15 62538784 62538784 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000429274 -1 known p.S172N 0.000 33 0.000 9 0.444 0 - benign(0.119) deleterious(0) neutral(0.454) NULL TLN2 83660 genome.wustl.edu 37 15 62989989 62989989 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015059.2 +1 reviewed p.T465 0.991 61 0% 32 31.2% 1 0% - - - NULL TLN2 83660 genome.wustl.edu 37 15 63054013 63054013 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015059.2 +1 reviewed p.S1591N 1.000 644 0% 338 24.9% 12 66.6% probably_damaging(0.993) tolerated(0.06) deleterious(0.772) NULL TLN2 83660 genome.wustl.edu 37 15 63089479 63089479 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015059.2 +1 reviewed p.A2038T 1.000 52 0% 31 41.9% 7 14.2% probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_VBS TLN2 83660 genome.wustl.edu 37 15 63092597 63092597 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015059.2 +1 reviewed p.A2089T 1.000 259 0.4% 160 30% 7 85.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TLN2 83660 genome.wustl.edu 37 15 63132749 63132749 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015059.2 +1 reviewed p.A2523 0.998 60 0% 29 17.2% 11 27.2% - - - HMMPfam_I_LWEQ,HMMSmart_ILWEQ HERC1 8925 genome.wustl.edu 37 15 63916022 63916022 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003922.3 -1 reviewed p.L4505I 1.000 492 0.2% 297 32.7% 15 13.3% probably_damaging(0.971) - - HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain HERC1 8925 genome.wustl.edu 37 15 63942034 63942034 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003922.3 -1 reviewed p.S3546Y 1.000 124 0% 63 25.4% 5 20% benign(0.076) - - superfamily_WD40 repeat-like HERC1 8925 genome.wustl.edu 37 15 63967131 63967131 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003922.3 -1 reviewed p.R2419Q 1.000 358 0.3% 231 28.6% 3 33.3% probably_damaging(0.989) - - NULL HERC1 8925 genome.wustl.edu 37 15 63970452 63970452 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003922.3 -1 reviewed p.R2221H 1.000 93 0% 52 23.1% 1 100% probably_damaging(1) - - NULL HERC1 8925 genome.wustl.edu 37 15 63978601 63978601 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003922.3 -1 reviewed p.G2061V 1.000 405 0.2% 255 30.6% 1 0% probably_damaging(1) - - NULL HERC1 8925 genome.wustl.edu 37 15 63986563 63986563 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003922.3 -1 reviewed p.A1810S 1.000 215 0% 133 10.5% 1 0% benign(0.181) - - NULL HERC1 8925 genome.wustl.edu 37 15 64048854 64048854 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003922.3 -1 reviewed p.D439Y 1.000 116 0% 81 16% 1 0% probably_damaging(1) - - superfamily_RCC1/BLIP-II FAM96A 84191 genome.wustl.edu 37 15 64385922 64385922 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032231.4 -1 validated p.L16M 0.981 58 0% 33 12.1% 81 27.1% possibly_damaging(0.685) deleterious(0.01) deleterious(0.650) NULL CSNK1G1 53944 genome.wustl.edu 37 15 64506260 64506260 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022048.3 -1 validated p.F170V 1.000 417 0.5% 291 27.5% 7 100% possibly_damaging(0.919) deleterious(0) deleterious(0.814) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ZNF609 23060 genome.wustl.edu 37 15 64792336 64792336 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015042.1 +1 provisional p.R240C 1.000 95 0% 53 26.4% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF609 23060 genome.wustl.edu 37 15 64970578 64970578 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015042.1 +1 provisional p.Q1222 1.000 430 0% 233 10.7% 13 7.6% - - - NULL CILP 8483 genome.wustl.edu 37 15 65489449 65489449 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003613.3 -1 reviewed p.S1059G 1.000 139 0% 76 23.7% 3 0% benign(0.01) tolerated(0.25) neutral(0.037) NULL CILP 8483 genome.wustl.edu 37 15 65489862 65489862 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003613.3 -1 reviewed p.R921Q 0.986 236 0% 126 34.9% 1 0% benign(0.135) tolerated(0.33) neutral(0.036) NULL CILP 8483 genome.wustl.edu 37 15 65496854 65496854 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003613.3 -1 reviewed p.F224S 0.987 126 0% 49 22.4% 1 0% possibly_damaging(0.452) tolerated(0.06) deleterious(0.471) NULL IGDCC3 9543 genome.wustl.edu 37 15 65621264 65621264 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004884.3 -1 validated p.A810T 0.001 43 0% 13 46.2% 0 - possibly_damaging(0.589) - - NULL IGDCC3 9543 genome.wustl.edu 37 15 65622714 65622714 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004884.3 -1 validated p.V592A 1.000 199 0% 101 30.7% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III DPP8 54878 genome.wustl.edu 37 15 65771297 65771297 + Silent SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_197960.2 -1 reviewed p.G475 0.998 118 0% 76 28.9% 14 42.8% - - - HMMPfam_DPPIV_N,superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain DPP8 54878 genome.wustl.edu 37 15 65782551 65782551 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_197960.2 -1 reviewed p.W284R 1.000 196 0% 118 11% 4 75% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DPPIV_N,superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain PTPLAD1 51495 genome.wustl.edu 37 15 65855154 65855154 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016395.2 +1 validated p.L155R 0.973 141 0% 83 12% 87 21.8% benign(0.248) deleterious(0.03) neutral(0.390) NULL SLC24A1 9187 genome.wustl.edu 37 15 65917427 65917427 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004727.2 +1 validated p.K337E 0.000 129 0% 64 29.7% 1 0% unknown(0) tolerated(0.79) - NULL DENND4A 10260 genome.wustl.edu 37 15 65956719 65956719 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001144823.1 -1 validated p.E1845* 1.000 95 0% 66 27.3% 6 0% - - - NULL DIS3L 115752 genome.wustl.edu 37 15 66604162 66604162 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133375.3 +1 validated p.S137I 0.070 560 0.4% 360 29.7% 20 45% benign(0.136) deleterious(0.01) neutral(0.417) NULL ENSG00000247991 0 genome.wustl.edu 37 15 66615956 66615956 + RNA SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000499718 -1 novel NULL 0.000 177 0.6% 87 31% 0 - - - - - DIS3L 115752 genome.wustl.edu 37 15 66621405 66621405 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133375.3 +1 validated p.S684P 1.000 165 0% 78 34.6% 38 55.2% probably_damaging(1) tolerated(0.13) deleterious(0.752) HMMPfam_RNB ZWILCH 55055 genome.wustl.edu 37 15 66813454 66813454 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017975.3 +1 validated p.A220T 0.000 705 0% 407 11.8% 23 17.3% benign(0) tolerated(0.43) neutral(0.013) HMMPfam_DUF2352 SMAD3 4088 genome.wustl.edu 37 15 67477161 67477161 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005902.3 +1 reviewed p.R323H 1.000 111 0% 53 26.4% 7 57.1% benign(0.097) tolerated(0.51) neutral(0.017) HMMPfam_MH2,HMMSmart_SM00524,superfamily_SMAD/FHA domain AAGAB 79719 genome.wustl.edu 37 15 67528765 67528765 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024666.3 -1 validated p.C114 0.964 439 0% 290 25.5% 62 46.7% - - - HMMPfam_Adaptin_binding AAGAB 79719 genome.wustl.edu 37 15 67529077 67529077 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024666.3 -1 validated p.K52T 1.000 319 0.3% 199 30.7% 33 48.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Adaptin_binding IQCH 64799 genome.wustl.edu 37 15 67709275 67709275 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001031715.2 +1 validated p.A702S 1.000 136 0.7% 80 25% 2 0% probably_damaging(0.958) deleterious(0.03) deleterious(0.766) NULL MAP2K5 5607 genome.wustl.edu 37 15 68065069 68065069 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145160.1 +1 reviewed p.R407 0.998 293 0% 255 17.3% 22 36.3% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PIAS1 8554 genome.wustl.edu 37 15 68378832 68378832 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016166.1 +1 reviewed p.T71 0.518 378 0% 239 29.3% 20 25% - - - NULL CALML4 91860 genome.wustl.edu 37 15 68489917 68489917 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033429.2 -1 validated p.M118I 0.630 219 0.5% 94 35.1% 30 46.6% possibly_damaging(0.647) deleterious(0) deleterious(0.671) HMMSmart_SM00054,superfamily_EF-hand ITGA11 22801 genome.wustl.edu 37 15 68624346 68624346 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004439.1 -1 reviewed p.R541* 1.000 75 0% 30 20% 6 0% - - - HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain UACA 55075 genome.wustl.edu 37 15 70963378 70963378 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018003.2 -1 validated p.Q407H 1.000 126 0.8% 95 28.4% 6 16.6% probably_damaging(0.996) tolerated(0.24) deleterious(0.499) NULL UACA 55075 genome.wustl.edu 37 15 70983667 70983667 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018003.2 -1 validated p.H113Y 1.000 369 0% 277 29.6% 4 0% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK LARP6 55323 genome.wustl.edu 37 15 71124693 71124693 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018357.2 -1 validated p.V392I 0.697 205 0% 80 28.7% 12 58.3% benign(0) tolerated(0.42) neutral(0.014) NULL THSD4 79875 genome.wustl.edu 37 15 72039217 72039217 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024817.2 +1 provisional p.G693C 1.000 39 0% 16 43.8% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat MYO9A 4649 genome.wustl.edu 37 15 72146758 72146758 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006901.2 -1 validated p.S2102 0.999 555 0% 394 16.5% 2 0% - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP MYO9A 4649 genome.wustl.edu 37 15 72152110 72152110 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006901.2 -1 validated p.C2040Y 1.000 208 0% 185 12.4% 4 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_Cysteine-rich domain NEO1 4756 genome.wustl.edu 37 15 73409142 73409142 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002499.3 +1 validated p.A131V 1.000 586 0% 446 30.9% 20 40% probably_damaging(0.96) tolerated(0.2) neutral(0.452) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin CLK3 1198 genome.wustl.edu 37 15 74912556 74912556 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130028.1 +1 reviewed p.S268N 1.000 72 0% 33 18.2% 39 15.3% benign(0.301) tolerated(0.06) neutral(0.415) NULL EDC3 80153 genome.wustl.edu 37 15 74964022 74964022 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142443.1 -1 validated p.P86 0.173 232 0% 153 32% 16 43.7% - - - NULL CYP1A1 1543 genome.wustl.edu 37 15 75012938 75012938 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000499.3 -1 reviewed p.R477 0.056 168 0% 88 11.4% 0 - - - - HMMPfam_p450,superfamily_Cytochrome P450 CYP1A1 1543 genome.wustl.edu 37 15 75015327 75015327 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000499.3 -1 reviewed p.K38E 0.995 79 0% 29 31% 0 - benign(0.001) deleterious(0.02) neutral(0.383) NULL CYP1A1 1543 genome.wustl.edu 37 15 75015387 75015387 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000499.3 -1 reviewed p.I18V 0.001 66 0% 34 14.7% 0 - benign(0) tolerated(1) - NULL CYP1A2 1544 genome.wustl.edu 37 15 75047405 75047405 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000761.3 +1 reviewed p.A509 0.000 93 0% 60 36.7% 0 - - - - superfamily_Cytochrome_P450 CYP1A2 1544 genome.wustl.edu 37 15 75047406 75047406 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000761.3 +1 reviewed p.R510W 0.000 93 0% 60 35% 0 - benign(0.009) tolerated(0.18) neutral(0.057) superfamily_Cytochrome_P450 SCAMP2 10066 genome.wustl.edu 37 15 75144525 75144525 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005697.3 -1 reviewed p.A76 0.003 29 0% 19 31.6% 67 77.6% - - - NULL MPI 4351 genome.wustl.edu 37 15 75188574 75188574 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002435.1 +1 reviewed p.C251Y 1.000 130 0% 59 20.3% 44 63.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PMI_typeI,superfamily_RmlC-like cupins SCAMP5 192683 genome.wustl.edu 37 15 75310237 75310237 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138967.3 +1 validated p.A107V 1.000 238 0% 120 20% 5 0% unknown(0) tolerated(1) - HMMPfam_SCAMP C15orf39 56905 genome.wustl.edu 37 15 75503357 75503357 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015492.4 +1 validated p.L1015H 1.000 25 0% 11 45.5% 33 30.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL IMP3 55272 genome.wustl.edu 37 15 75931982 75931982 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018285.3 -1 reviewed p.E176 1.000 50 2% 29 20.7% 113 12.3% - - - HMMSmart_SM00363,superfamily_Alpha-L RNA-binding motif FBXO22 26263 genome.wustl.edu 37 15 76225324 76225324 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_147188.1 +1 reviewed p.C365R 0.997 369 0% 218 30.3% 56 37.5% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_FIST_C ETFA 2108 genome.wustl.edu 37 15 76578070 76578070 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000126.3 -1 reviewed p.T191I 0.985 414 0% 275 12.4% 196 17.8% benign(0.002) tolerated(0.11) neutral(0.272) superfamily_Adenine nucleotide alpha hydrolases-like SCAPER 49855 genome.wustl.edu 37 15 77046262 77046262 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020843.2 -1 validated p.E584* 1.000 728 0.1% 517 24.2% 4 25% - - - NULL PSTPIP1 9051 genome.wustl.edu 37 15 77323567 77323567 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003978.3 +1 reviewed p.A230V 1.000 33 0% 24 25% 4 0% benign(0.344) tolerated(0.29) neutral(0.138) NULL LINGO1 84894 genome.wustl.edu 37 15 77906539 77906539 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032808.5 -1 validated p.G570 0.959 58 0% 30 26.7% 30 33.3% - - - NULL IDH3A 3419 genome.wustl.edu 37 15 78458574 78458574 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005530.2 +1 reviewed p.R316H 0.999 247 0% 152 28.3% 91 43.9% possibly_damaging(0.661) tolerated(0.08) deleterious(0.533) HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like DNAJA4 55466 genome.wustl.edu 37 15 78566744 78566744 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018602.3 +1 validated p.I237 0.862 53 0% 19 21.1% 32 18.7% - - - HMMPfam_DnaJ_CXXCXGXG,superfamily_HSP40_DnaJ_pep IREB2 3658 genome.wustl.edu 37 15 78777178 78777178 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004136.2 +1 validated p.Y497H 0.998 121 0% 73 19.2% 24 41.6% probably_damaging(0.998) tolerated(0.24) deleterious(0.512) HMMPfam_Aconitase,superfamily_Aconitase iron-sulfur domain AGPHD1 123688 genome.wustl.edu 37 15 78805501 78805501 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001013619.2 +1 validated p.A24V 0.014 214 0% 113 13.3% 2 50% benign(0.286) tolerated(0.23) neutral(0.130) superfamily_Protein kinase-like (PK-like) PSMA4 5685 genome.wustl.edu 37 15 78837261 78837261 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001102667.1 +1 validated p.A113V 1.000 142 0% 73 31.5% 263 43.3% benign(0.24) tolerated(0.1) neutral(0.310) HMMPfam_Proteasome,superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) CHRNA5 1138 genome.wustl.edu 37 15 78882779 78882779 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000745.2 +1 provisional p.A349V 1.000 418 0% 274 26.6% 13 38.4% benign(0.006) deleterious(0) neutral(0.445) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM CHRNB4 1143 genome.wustl.edu 37 15 78921532 78921532 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000750.3 -1 validated p.A372D 0.002 72 0% 49 28.6% 0 - benign(0.151) tolerated(0.54) neutral(0.021) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM MORF4L1 10933 genome.wustl.edu 37 15 79186549 79186549 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_206839.1 +1 validated p.A299V 1.000 578 0% 383 26.9% 345 35.6% benign(0.15) deleterious(0) neutral(0.458) HMMPfam_MRG CTSH 1512 genome.wustl.edu 37 15 79220055 79220055 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004390.3 -1 reviewed p.I233 0.000 85 1.2% 40 30% 140 26.4% - - - HMMPfam_Peptidase_C1,HMMSmart_SM00645,superfamily_Cysteine proteinases RASGRF1 5923 genome.wustl.edu 37 15 79382756 79382756 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002891.4 -1 reviewed p.L29M 1.000 170 0% 69 29% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like KIAA1024 23251 genome.wustl.edu 37 15 79749495 79749495 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015206.2 +1 validated p.A336S 1.000 435 0% 233 13.7% 0 - probably_damaging(0.991) tolerated(0.4) neutral(0.460) NULL KIAA1024 23251 genome.wustl.edu 37 15 79750075 79750075 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015206.2 +1 validated p.S529I 1.000 196 0% 97 33% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL FAH 2184 genome.wustl.edu 37 15 80454663 80454663 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000137.1 +1 reviewed p.A147V 0.997 336 0% 154 24% 15 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_FAA_hydrolase,superfamily_FAH LOC647020 647020 genome.wustl.edu 37 15 81410295 81410295 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_001719614.2 -1 model p.T167 0.982 103 0% 67 29.9% 0 - - - - superfamily_L domain-like IL16 3603 genome.wustl.edu 37 15 81565467 81565467 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_172217.3 +1 reviewed p.I238V 1.000 99 0% 58 25.9% 0 - possibly_damaging(0.942) tolerated(0.67) neutral(0.390) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like IL16 3603 genome.wustl.edu 37 15 81591916 81591916 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_172217.3 +1 reviewed p.T750I 0.000 228 0% 116 25% 4 0% benign(0.022) tolerated(0.18) neutral(0.057) NULL MEX3B 84206 genome.wustl.edu 37 15 82336905 82336905 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032246.3 -1 provisional p.T102 0.998 45 0% 30 20% 8 62.5% - - - HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) FAM154B 283726 genome.wustl.edu 37 15 82574611 82574611 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001008226.1 +1 predicted p.S135 0.000 627 0% 398 26.6% 2 50% - - - NULL CPEB1 64506 genome.wustl.edu 37 15 83215190 83215190 + Splice_Site SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030594.3 -1 reviewed e11+1 1.000 204 0% 107 11.2% 0 - - - - - CPEB1 64506 genome.wustl.edu 37 15 83222235 83222235 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030594.3 -1 reviewed p.P349S 1.000 186 0% 137 30.7% 0 - benign(0.003) tolerated(1) - NULL FSD2 123722 genome.wustl.edu 37 15 83434023 83434023 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001007122.2 -1 provisional p.T572N 1.000 121 0% 55 18.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL FSD2 123722 genome.wustl.edu 37 15 83438586 83438586 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001007122.2 -1 provisional p.P440S 1.000 231 0% 160 11.3% 0 - probably_damaging(1) tolerated(0.39) deleterious(0.516) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like WHAMM 123720 genome.wustl.edu 37 15 83495211 83495211 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080435.1 +1 provisional p.S503N 0.661 322 0% 178 23% 9 44.4% benign(0.003) tolerated(0.38) neutral(0.018) NULL WHAMM 123720 genome.wustl.edu 37 15 83502175 83502175 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080435.1 +1 provisional p.R773C 0.010 169 0% 89 20.2% 18 44.4% benign(0) tolerated(0.05) neutral(0.345) NULL TM6SF1 53346 genome.wustl.edu 37 15 83805385 83805385 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_023003.3 +1 validated p.E358D 1.000 339 0.3% 225 27.6% 2 0% probably_damaging(0.973) tolerated(0.69) neutral(0.417) NULL SH3GL3 6457 genome.wustl.edu 37 15 84287208 84287208 + RNA SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NR_026799.1 +1 validated NULL 0.035 58 0% 32 40.6% 0 - - - - - ADAMTSL3 57188 genome.wustl.edu 37 15 84527536 84527536 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207517.2 +1 validated p.A249D 1.000 193 0% 121 22.3% 0 - probably_damaging(0.995) tolerated(0.33) deleterious(0.482) NULL ADAMTSL3 57188 genome.wustl.edu 37 15 84611672 84611672 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207517.2 +1 validated p.G776 0.026 168 0.6% 122 16.4% 0 - - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat ADAMTSL3 57188 genome.wustl.edu 37 15 84700100 84700100 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207517.2 +1 validated p.C1557Y 0.868 571 0.2% 335 28.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF592 9640 genome.wustl.edu 37 15 85327370 85327370 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014630.2 +1 validated p.L488 0.006 75 0% 38 36.8% 14 50% - - - NULL ALPK3 57538 genome.wustl.edu 37 15 85383964 85383964 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020778.4 +1 validated p.P687H 1.000 127 0% 54 31.5% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ALPK3 57538 genome.wustl.edu 37 15 85399979 85399979 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020778.4 +1 validated p.Q872 0.001 201 0% 91 11% 0 - - - - NULL ALPK3 57538 genome.wustl.edu 37 15 85403093 85403093 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020778.4 +1 validated p.E1553G 0.855 140 0% 57 14% 1 100% benign(0.066) deleterious(0.01) neutral(0.410) HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Protein kinase-like (PK-like),superfamily_Immunoglobulin AKAP13 11214 genome.wustl.edu 37 15 86076983 86076983 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006738.4 +1 reviewed p.R117H 0.994 265 0% 178 25.8% 1 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL AKAP13 11214 genome.wustl.edu 37 15 86124560 86124560 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006738.4 +1 reviewed p.V1087 0.001 214 0% 114 37.7% 2 0% - - - NULL AKAP13 11214 genome.wustl.edu 37 15 86212991 86212991 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006738.4 +1 reviewed p.C1681 0.999 252 0% 166 26.5% 8 37.5% - - - NULL AKAP13 11214 genome.wustl.edu 37 15 86278373 86278373 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006738.4 +1 reviewed p.A2482D 0.800 355 0% 219 28.8% 11 18.1% probably_damaging(0.982) deleterious(0.01) deleterious(0.832) NULL AGBL1 123624 genome.wustl.edu 37 15 86838640 86838640 + Splice_Site SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152336.2 +1 validated e15+1 1.000 375 0% 314 29% 0 - - - - - NTRK3 4916 genome.wustl.edu 37 15 88472461 88472461 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001012338.1 -1 reviewed p.F698 0.868 241 0.4% 137 26.3% 0 - - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) NTRK3 4916 genome.wustl.edu 37 15 88522618 88522618 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001007156.1 -1 reviewed p.E599D 1.000 474 0% 287 26.5% 0 - benign(0.105) - - NULL LOC100288732 100288732 genome.wustl.edu 37 15 88678322 88678322 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002343392.1 +1 model p.A110V 0.001 114 0% 61 32.8% 0 - - - - NULL DET1 55070 genome.wustl.edu 37 15 89060041 89060041 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017996.3 -1 validated p.P490S 1.000 129 0% 77 15.6% 16 18.7% probably_damaging(1) tolerated(0.22) deleterious(0.542) HMMPfam_Det1 AEN 64782 genome.wustl.edu 37 15 89173339 89173339 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022767.3 +1 validated p.E264D 1.000 56 0% 32 31.2% 27 51.8% benign(0.015) tolerated(0.36) neutral(0.021) HMMSmart_SM00479,superfamily_Ribonuclease H-like,HMMPfam_Exonuc_X-T HAPLN3 145864 genome.wustl.edu 37 15 89422335 89422335 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178232.2 -1 reviewed p.A220V 0.995 21 0% 17 64.7% 15 20% possibly_damaging(0.633) deleterious(0.04) deleterious(0.570) HMMPfam_Xlink,HMMSmart_SM00445,PatternScan_LINK_1,superfamily_C-type lectin-like MFGE8 4240 genome.wustl.edu 37 15 89453045 89453045 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005928.2 -1 validated p.Y61 0.006 98 0% 43 34.9% 43 46.5% - - - HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_EGF/Laminin POLG 5428 genome.wustl.edu 37 15 89871930 89871930 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001126131.1 -1 reviewed p.R386C 1.000 176 0% 105 27.6% 18 22.2% possibly_damaging(0.932) deleterious(0) deleterious(0.823) NULL POLG 5428 genome.wustl.edu 37 15 89872060 89872060 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001126131.1 -1 reviewed p.I342 0.857 77 0% 33 27.3% 15 40% - - - NULL C15orf42 90381 genome.wustl.edu 37 15 90129072 90129072 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152259.3 +1 validated p.A437V 0.000 152 0% 110 20% 9 88.8% benign(0.009) tolerated(0.43) neutral(0.014) NULL C15orf42 90381 genome.wustl.edu 37 15 90142601 90142601 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152259.3 +1 validated p.Y649 1.000 176 0% 113 31% 2 0% - - - NULL C15orf42 90381 genome.wustl.edu 37 15 90167073 90167073 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152259.3 +1 validated p.R1178* 0.000 536 0% 219 32.9% 4 50% - - - NULL C15orf42 90381 genome.wustl.edu 37 15 90170255 90170255 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152259.3 +1 validated p.R1891C 1.000 230 0% 85 28.2% 11 72.7% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL WDR93 56964 genome.wustl.edu 37 15 90276355 90276355 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020212.1 +1 provisional p.S483 0.004 236 0.4% 155 36.1% 1 100% - - - superfamily_C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase ANPEP 290 genome.wustl.edu 37 15 90328720 90328720 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001150.2 -1 reviewed p.K922E 1.000 146 0.7% 77 28.6% 13 0% possibly_damaging(0.465) tolerated(0.09) neutral(0.450) NULL C15orf38 348110 genome.wustl.edu 37 15 90451601 90451601 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182616.2 -1 validated p.R71H 1.000 55 0% 34 29.4% 17 41.1% probably_damaging(0.978) deleterious(0) deleterious(0.865) HMMPfam_UPF0552 ZNF710 374655 genome.wustl.edu 37 15 90611251 90611251 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198526.2 +1 validated p.R294 1.000 41 0% 20 30% 7 57.1% - - - superfamily_SSF57667 ZNF710 374655 genome.wustl.edu 37 15 90616390 90616390 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198526.2 +1 validated p.V516I 1.000 65 0% 31 29% 21 38% benign(0.23) tolerated(0.19) neutral(0.073) superfamily_SSF57667 IDH2 3418 genome.wustl.edu 37 15 90631877 90631877 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002168.2 -1 reviewed p.R159H 1.000 76 0% 37 10.8% 223 13.4% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like IDH2 3418 genome.wustl.edu 37 15 90633836 90633836 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002168.2 -1 reviewed p.D83V 1.000 49 0% 28 14.3% 186 30.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like LOC728477 728477 genome.wustl.edu 37 15 90838371 90838371 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002343383.1 +1 model p.P276 0.993 121 0% 62 19.4% 0 - - - - NULL ZNF774 342132 genome.wustl.edu 37 15 90903430 90903430 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004309.2 +1 validated p.T123P 0.000 267 0% 145 11% 2 0% benign(0.001) tolerated(0.34) neutral(0.023) NULL IQGAP1 8826 genome.wustl.edu 37 15 90991920 90991920 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003870.3 +1 reviewed p.S343 0.521 145 0% 108 32.4% 18 66.6% - - - NULL IQGAP1 8826 genome.wustl.edu 37 15 91009238 91009238 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003870.3 +1 reviewed p.I594 0.988 310 0% 172 12.2% 20 10% - - - NULL IQGAP1 8826 genome.wustl.edu 37 15 91025225 91025225 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003870.3 +1 reviewed p.A1121 0.192 220 0% 126 33.3% 42 9.5% - - - HMMPfam_RasGAP,HMMSmart_SM00323,superfamily_GTPase activation domain GAP CRTC3 64784 genome.wustl.edu 37 15 91083299 91083299 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022769.3 +1 validated p.R54H 1.000 492 0% 302 11.9% 13 0% possibly_damaging(0.943) deleterious(0.04) deleterious(0.736) NULL BLM 641 genome.wustl.edu 37 15 91352464 91352464 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000057.2 +1 reviewed p.Q1283H 1.000 247 0.4% 152 25.7% 13 69.2% probably_damaging(0.998) tolerated(0.06) deleterious(0.797) HMMPfam_HRDC,HMMSmart_HRDC FES 2242 genome.wustl.edu 37 15 91428453 91428453 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002005.3 +1 reviewed p.S60R 0.795 30 0% 21 23.8% 3 0% possibly_damaging(0.816) tolerated(0.55) neutral(0.316) HMMPfam_FCH,HMMSmart_SM00055 FES 2242 genome.wustl.edu 37 15 91430264 91430264 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002005.3 +1 reviewed p.R154H 1.000 50 0% 19 31.6% 1 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL MAN2A2 4122 genome.wustl.edu 37 15 91455453 91455453 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006122.2 +1 validated p.A764T 1.000 54 0% 37 21.6% 34 44.1% benign(0) tolerated(0.62) neutral(0.004) superfamily_Gal_mut_like,HMMPfam_Glyco_hydro_38C UNC45A 55898 genome.wustl.edu 37 15 91496415 91496415 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018671.3 +1 validated p.D818N 1.000 49 0% 15 46.7% 100 46% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat PRC1 9055 genome.wustl.edu 37 15 91517908 91517908 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003981.2 -1 reviewed p.K419N 0.000 681 0.1% 328 21.6% 67 50.7% benign(0.037) tolerated(0.17) neutral(0.061) HMMPfam_MAP65_ASE1 PRC1 9055 genome.wustl.edu 37 15 91525198 91525198 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003981.2 -1 reviewed p.T94M 0.008 540 0% 315 13% 47 14.8% benign(0.051) tolerated(0.32) neutral(0.027) HMMPfam_MAP65_ASE1 VPS33B 26276 genome.wustl.edu 37 15 91543778 91543778 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018668.3 -1 reviewed p.D508G 1.000 103 0% 67 28.4% 23 56.5% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins VPS33B 26276 genome.wustl.edu 37 15 91549655 91549655 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018668.3 -1 reviewed p.E267* 1.000 204 0% 103 17.5% 8 12.5% - - - HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins SV2B 9899 genome.wustl.edu 37 15 91810874 91810874 + Splice_Site SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014848.4 +1 validated e7+1 1.000 35 0% 23 43.5% 0 - - - - - SV2B 9899 genome.wustl.edu 37 15 91835606 91835606 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014848.4 +1 validated p.A626S 1.000 225 0% 138 32.6% 0 - possibly_damaging(0.523) deleterious(0.03) deleterious(0.541) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter SLCO3A1 28232 genome.wustl.edu 37 15 92706192 92706192 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013272.3 +1 validated p.R654C 1.000 293 0% 152 30.3% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_MFS general substrate transporter ST8SIA2 8128 genome.wustl.edu 37 15 93007438 93007438 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006011.3 +1 reviewed p.P317 1.000 268 0% 137 13.1% 0 - - - - HMMPfam_Glyco_transf_29 FAM174B 400451 genome.wustl.edu 37 15 93173517 93173517 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207446.2 -1 validated p.R135* 1.000 92 0% 53 34% 76 50% - - - HMMPfam_DUF1180 CHD2 1106 genome.wustl.edu 37 15 93521488 93521488 + Silent SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001271.3 +1 reviewed p.R868 0.985 263 0% 193 11.9% 9 11.1% - - - HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases NR2F2 7026 genome.wustl.edu 37 15 96877635 96877635 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021005.3 +1 reviewed p.A258V 1.000 63 0% 41 14.6% 63 9.5% benign(0.105) tolerated(0.16) neutral(0.068) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain ARRDC4 91947 genome.wustl.edu 37 15 98511279 98511279 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_183376.2 +1 validated p.G186 1.000 212 0% 114 28.9% 4 75% - - - superfamily_E set domains IGF1R 3480 genome.wustl.edu 37 15 99250954 99250954 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000875.3 +1 reviewed p.L86 1.000 247 0% 138 17.4% 3 0% - - - HMMPfam_Recep_L_domain,superfamily_SSF52058 IGF1R 3480 genome.wustl.edu 37 15 99486166 99486166 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000875.3 +1 reviewed p.R1158* 0.959 130 0% 55 21.8% 8 12.5% - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like SYNM 23336 genome.wustl.edu 37 15 99670296 99670296 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145728.2 +1 reviewed p.C577Y 0.001 113 0% 61 24.6% 1 0% - - - NULL MEF2A 4205 genome.wustl.edu 37 15 100211575 100211575 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130926.1 +1 reviewed p.D102 1.000 388 0.3% 220 26.8% 8 50% - - - NULL LYSMD4 145748 genome.wustl.edu 37 15 100271941 100271941 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152449.2 -1 validated p.R59H 0.053 32 0% 16 43.8% 0 - unknown(0) tolerated(0.12) - NULL ALDH1A3 220 genome.wustl.edu 37 15 101434200 101434200 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000693.2 +1 reviewed p.P193 0.000 122 0% 57 24.6% 3 0% - - - HMMPfam_Aldedh,superfamily_Aldehyde_DH/Histidinol_DH LRRK1 79705 genome.wustl.edu 37 15 101528989 101528989 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024652.3 +1 validated p.R195H 0.113 108 0% 50 22% 3 0% probably_damaging(0.976) tolerated(0.11) deleterious(0.690) HMMSmart_SM00248,superfamily_Ankyrin repeat LRRK1 79705 genome.wustl.edu 37 15 101605655 101605655 + Silent SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024652.3 +1 validated p.S1671 0.005 203 0% 60 15% 3 0% - - - NULL CHSY1 22856 genome.wustl.edu 37 15 101775530 101775530 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000254190 -1 known p.S191 0.998 169 0% 111 26.1% 15 40% - - - NULL PCSK6 5046 genome.wustl.edu 37 15 101862769 101862769 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138320.1 -1 reviewed p.R807C 0.012 36 0% 25 36% 19 63.1% - - - NULL LOC100128108 100128108 genome.wustl.edu 37 15 102277476 102277476 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_001721901.2 -1 model p.H77Y 0.734 27 0% 24 41.7% 0 - - - - NULL ITFG3 83986 genome.wustl.edu 37 16 313761 313761 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032039.2 +1 validated p.G392V 0.526 56 0% 32 28.1% 105 32.3% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL IFT140 9742 genome.wustl.edu 37 16 1570178 1570178 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014714.3 -1 validated p.G1276E 1.000 54 0% 31 25.8% 16 62.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_TPR-like CRAMP1L 57585 genome.wustl.edu 37 16 1719097 1719097 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020825.3 +1 validated p.A1144T 0.996 20 0.000 9 0.444 9 22.2% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) NULL FAHD1 81889 genome.wustl.edu 37 16 1877499 1877499 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001018104.2 +1 validated p.A90D 1.000 15 0.000 8 0.500 39 43.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FAA_hydrolase,superfamily_Fumarylacetoacetase_C-rel TSC2 7249 genome.wustl.edu 37 16 2129045 2129045 + Silent SNP G G A rs45517277 byCluster;byFrequency TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000548.3 +1 reviewed p.T993 0.036 16 0% 12 33.3% 85 49.4% - - - NULL MLST8 64223 genome.wustl.edu 37 16 2258336 2258336 + Splice_Site SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022372.3 +1 validated e6+1 1.000 52 0% 18 44.4% 2 0% - - - - C16orf79 283870 genome.wustl.edu 37 16 2259672 2259672 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182563.2 -1 provisional p.H158 0.000 34 0% 18 22.2% 2 100% - - - NULL PDPK1 5170 genome.wustl.edu 37 16 2627458 2627458 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002613.3 +1 validated p.Y248H 1.000 62 0% 47 14.9% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SRRM2 23524 genome.wustl.edu 37 16 2812546 2812546 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016333.3 +1 validated p.T673P 0.900 560 0.4% 288 30.9% 81 35.8% unknown(0) - - NULL MGC3771 81854 genome.wustl.edu 37 16 3165594 3165594 + RNA SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NR_024166.1 -1 validated NULL 0.000 29 0% 15 53.3% 1 100% - - - - ZNF213 7760 genome.wustl.edu 37 16 3189000 3189000 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001134655.1 +1 validated p.P208S 0.998 165 0% 66 28.8% 17 29.4% probably_damaging(0.998) tolerated(0.18) deleterious(0.530) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF213 7760 genome.wustl.edu 37 16 3191146 3191146 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001134655.1 +1 validated p.R393H 1.000 59 0% 27 33.3% 22 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers TIGD7 91151 genome.wustl.edu 37 16 3350172 3350172 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033208.2 -1 validated p.S148L 0.150 364 0% 207 30% 27 40.7% possibly_damaging(0.484) tolerated(0.13) neutral(0.413) NULL SLX4 84464 genome.wustl.edu 37 16 3641150 3641150 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032444.2 -1 provisional p.A830V 0.391 198 0% 81 32.1% 4 75% possibly_damaging(0.916) tolerated(0.37) neutral(0.386) NULL SLX4 84464 genome.wustl.edu 37 16 3645687 3645687 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032444.2 -1 provisional p.D644 0.001 34 0% 11 54.5% 2 100% - - - NULL SLX4 84464 genome.wustl.edu 37 16 3658582 3658582 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032444.2 -1 provisional p.W128* 0.000 97 1% 59 11.9% 3 0% - - - NULL TRAP1 10131 genome.wustl.edu 37 16 3736106 3736106 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016292.2 -1 validated p.S121I 1.000 150 0.7% 75 20% 132 22.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_HATPase_c,HMMSmart_HATPase_c,superfamily_ATP_bd_ATPase CREBBP 1387 genome.wustl.edu 37 16 3778767 3778767 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004380.2 -1 reviewed p.P2094L 1.000 96 0% 44 31.8% 60 46.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_Nuc_recept_coact,HMMPfam_Creb_binding CREBBP 1387 genome.wustl.edu 37 16 3781321 3781321 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004380.2 -1 reviewed p.R1682C 1.000 45 0% 18 22.2% 39 51.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CREBBP 1387 genome.wustl.edu 37 16 3801769 3801769 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004380.2 -1 reviewed p.G1246D 1.000 174 0% 107 25.2% 22 36.3% unknown(0) tolerated(0.08) - NULL CREBBP 1387 genome.wustl.edu 37 16 3828768 3828768 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004380.2 -1 reviewed p.R625H 1.000 359 0% 220 25.5% 18 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_KIX,superfamily_KIX DNAJA3 9093 genome.wustl.edu 37 16 4492377 4492377 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005147.4 +1 validated p.G247S 1.000 112 0% 61 26.2% 77 48% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DnaJ_CXXCXGXG,superfamily_HSP_DnaJ_cys-rich SEPT12 124404 genome.wustl.edu 37 16 4835828 4835828 + Missense_Mutation SNP G G C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144605.3 -1 validated p.D118E 1.000 62 0% 39 33.3% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Septin,superfamily_P-loop containing nucleoside triphosphate hydrolases PPL 5493 genome.wustl.edu 37 16 4933446 4933446 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002705.4 -1 reviewed p.R1737H 0.967 184 0% 81 25.9% 2 0% possibly_damaging(0.952) tolerated(0.15) deleterious(0.637) superfamily_Plakin repeat PPL 5493 genome.wustl.edu 37 16 4933730 4933730 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002705.4 -1 reviewed p.S1642 0.048 156 0.6% 82 37.8% 3 66.6% - - - superfamily_Plakin repeat PPL 5493 genome.wustl.edu 37 16 4934517 4934517 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002705.4 -1 reviewed p.R1380Q 0.997 222 0.5% 121 24.8% 4 0% possibly_damaging(0.833) tolerated(0.45) neutral(0.330) NULL C16orf89 146556 genome.wustl.edu 37 16 5110303 5110303 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152459.3 -1 validated p.Q203* 0.888 38 0% 11 36.4% 1 0% - - - NULL RBFOX1 54715 genome.wustl.edu 37 16 7568178 7568178 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145891.2 +1 reviewed p.D39 1.000 516 0.2% 268 32.5% 0 - - - - NULL RBFOX1 54715 genome.wustl.edu 37 16 7629849 7629849 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145891.2 +1 reviewed p.S134F 1.000 198 0% 124 30.6% 0 - possibly_damaging(0.524) deleterious(0.04) deleterious(0.525) superfamily_SSF54928 PMM2 5373 genome.wustl.edu 37 16 8905009 8905009 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000303.2 +1 reviewed p.R141C 1.000 18 0% 17 41.2% 44 27.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PMM,superfamily_HAD-like USP7 7874 genome.wustl.edu 37 16 8996253 8996253 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003470.2 -1 validated p.A642 0.016 81 0% 42 31% 91 30.7% - - - NULL USP7 7874 genome.wustl.edu 37 16 9014216 9014216 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003470.2 -1 validated p.A204V 1.000 350 0% 168 19% 70 47.1% benign(0.041) tolerated(0.17) neutral(0.061) NULL GRIN2A 2903 genome.wustl.edu 37 16 9857374 9857374 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000833.3 -1 reviewed p.L1343I 1.000 198 0% 113 21.2% 0 - benign(0.011) tolerated(0.57) neutral(0.007) HMMPfam_NMDAR2_C GRIN2A 2903 genome.wustl.edu 37 16 9862750 9862750 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000833.3 -1 reviewed p.G851 0.991 273 0% 201 27.4% 0 - - - - HMMPfam_NMDAR2_C GRIN2A 2903 genome.wustl.edu 37 16 9943779 9943779 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000833.3 -1 reviewed p.A388T 0.997 167 0% 110 21.8% 0 - benign(0.013) tolerated(0.49) neutral(0.011) superfamily_Periplasmic binding protein-like I GRIN2A 2903 genome.wustl.edu 37 16 9984926 9984926 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000833.3 -1 reviewed p.D347Y 1.000 297 0.3% 197 28.4% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) superfamily_Periplasmic binding protein-like I EMP2 2013 genome.wustl.edu 37 16 10641447 10641447 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001424.4 -1 validated p.A10T 0.000 101 0% 53 26.4% 66 51.5% benign(0.013) deleterious(0.02) neutral(0.384) HMMPfam_PMP22_Claudin NUBP1 4682 genome.wustl.edu 37 16 10855621 10855621 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002484.2 +1 validated p.S242Y 0.999 52 0% 22 31.8% 27 37% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_ParA,superfamily_P-loop containing nucleoside triphosphate hydrolases CIITA 4261 genome.wustl.edu 37 16 11000988 11000988 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000246.3 +1 reviewed p.A547S 0.525 67 0% 28 35.7% 1 0% benign(0.325) tolerated(0.77) neutral(0.103) HMMPfam_NACHT CIITA 4261 genome.wustl.edu 37 16 11001070 11001070 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000246.3 +1 reviewed p.A574V 0.625 80 0% 42 28.6% 4 0% benign(0.004) tolerated(0.3) neutral(0.029) HMMPfam_NACHT CLEC16A 23274 genome.wustl.edu 37 16 11214502 11214502 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015226.2 +1 validated p.I716T 0.998 93 0% 66 33.3% 9 44.4% benign(0.001) tolerated(0.12) neutral(0.261) NULL ZC3H7A 29066 genome.wustl.edu 37 16 11857465 11857465 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014153.2 -1 provisional p.R624H 1.000 242 0% 135 21.5% 31 48.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_CCCH zinc finger ZC3H7A 29066 genome.wustl.edu 37 16 11876154 11876154 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014153.2 -1 provisional p.L19 0.977 387 0% 247 15% 10 10% - - - NULL ENSG00000234719 0 genome.wustl.edu 37 16 12024384 12024384 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000399147 -1 known p.E154 0.071 74 0% 45 31.1% 0 - - - - HMMPfam_NPIP NOMO1 23420 genome.wustl.edu 37 16 14946363 14946363 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014287.3 +1 reviewed p.S220Y 1.000 390 0% 290 14.5% 48 22.9% possibly_damaging(0.834) deleterious(0.04) deleterious(0.667) superfamily_Carboxypeptidase regulatory domain NTAN1 123803 genome.wustl.edu 37 16 15133886 15133886 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173474.2 -1 provisional p.S193 0.993 326 0% 150 24% 58 48.2% - - - NULL KIAA0430 9665 genome.wustl.edu 37 16 15709700 15709700 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014647.3 -1 validated p.P1080 0.986 555 0.4% 325 27.1% 19 36.8% - - - NULL KIAA0430 9665 genome.wustl.edu 37 16 15727699 15727699 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014647.3 -1 validated p.G336 0.985 195 0.5% 124 10.5% 5 20% - - - NULL KIAA0430 9665 genome.wustl.edu 37 16 15733003 15733003 + Nonsense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014647.3 -1 validated p.K30* 1.000 296 0% 182 11% 5 0% - - - NULL MYH11 4629 genome.wustl.edu 37 16 15814126 15814126 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001040114.1 -1 reviewed p.R1619H 0.998 218 0% 93 26.9% 94 1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_tail_1 NOMO3 408050 genome.wustl.edu 37 16 16330780 16330780 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004067.2 +1 reviewed p.G63V 1.000 1197 0% 690 16.2% 20 30% probably_damaging(1) deleterious(0) deleterious(0.945) NULL XYLT1 64131 genome.wustl.edu 37 16 17202582 17202582 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022166.3 -1 reviewed p.G950 0.638 17 0.000 8 0.500 0 - - - - NULL XYLT1 64131 genome.wustl.edu 37 16 17292094 17292094 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022166.3 -1 reviewed p.L422M 1.000 101 0% 44 22.7% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Branch ABCC6P1 653190 genome.wustl.edu 37 16 18593771 18593771 + RNA SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NR_003569.1 +1 provisional NULL 0.968 106 0.9% 67 34.3% 0 - benign(0.002) tolerated(0.28) neutral(0.032) - SMG1 23049 genome.wustl.edu 37 16 18846388 18846388 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015092.4 -1 reviewed p.S2719I 0.997 711 0.1% 380 24.2% 16 25% benign(0.186) tolerated(0.07) neutral(0.337) NULL SMG1 23049 genome.wustl.edu 37 16 18858849 18858849 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015092.4 -1 reviewed p.H1974 0.970 479 0% 280 28.2% 9 55.5% - - - NULL ITPRIPL2 162073 genome.wustl.edu 37 16 19127112 19127112 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001034841.3 +1 validated p.D443 1.000 35 0% 21 19% 18 44.4% - - - NULL SYT17 51760 genome.wustl.edu 37 16 19278297 19278297 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016524.2 +1 validated p.R442C 1.000 55 0% 44 27.3% 11 27.2% benign(0.155) deleterious(0.05) neutral(0.359) HMMSmart_C2,superfamily_C2_CaLB TMC5 79838 genome.wustl.edu 37 16 19451882 19451882 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001105248.1 +1 validated p.G174 0.001 648 0.2% 412 27.4% 8 62.5% - - - NULL TMC5 79838 genome.wustl.edu 37 16 19452108 19452108 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001105248.1 +1 validated p.H250Y 0.000 243 0% 162 27.2% 7 71.4% possibly_damaging(0.646) deleterious(0.01) deleterious(0.632) NULL TMC5 79838 genome.wustl.edu 37 16 19485577 19485577 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001105248.1 +1 validated p.E690G 0.943 345 0% 178 25.8% 25 40% possibly_damaging(0.439) deleterious(0.01) deleterious(0.548) NULL IQCK 124152 genome.wustl.edu 37 16 19745060 19745060 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153208.1 +1 provisional p.A96V 0.000 283 0.4% 175 13.1% 21 0% benign(0.138) tolerated(1) neutral(0.011) NULL IQCK 124152 genome.wustl.edu 37 16 19838379 19838379 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153208.1 +1 provisional p.R241H 1.000 294 0.3% 185 25.4% 24 50% unknown(0) - - NULL GP2 2813 genome.wustl.edu 37 16 20331584 20331584 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001007240.1 -1 validated p.E289D 1.000 222 0% 115 27% 0 - possibly_damaging(0.895) tolerated(0.27) neutral(0.386) HMMPfam_Zona_pellucida,HMMSmart_SM00241 GP2 2813 genome.wustl.edu 37 16 20335145 20335145 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001007240.1 -1 validated p.Y176 0.985 58 0% 32 18.8% 0 - - - - NULL UMOD 7369 genome.wustl.edu 37 16 20346812 20346812 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001008389.1 -1 reviewed p.S618N 0.852 186 0% 116 32.8% 0 - unknown(0) tolerated(0.08) - NULL PDILT 204474 genome.wustl.edu 37 16 20380896 20380896 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_174924.1 -1 provisional p.A345V 0.002 507 0.2% 282 13.5% 0 - benign(0.004) tolerated(0.09) neutral(0.296) superfamily_Thiordxn-like_fd ACSM2A 123876 genome.wustl.edu 37 16 20487004 20487004 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001010845.2 +1 validated p.T336N 0.002 642 0% 376 30.9% 0 - benign(0.019) deleterious(0.02) neutral(0.384) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ACSM2A 123876 genome.wustl.edu 37 16 20492194 20492194 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001010845.2 +1 validated p.A487D 0.856 225 0% 129 26.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ACSM2A 123876 genome.wustl.edu 37 16 20497993 20497993 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001010845.2 +1 validated p.A576V 0.000 709 0.1% 392 33.9% 0 - benign(0) deleterious(0.01) neutral(0.406) NULL ACSM1 116285 genome.wustl.edu 37 16 20696603 20696603 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052956.2 -1 validated p.T105 0.795 376 0% 231 28.1% 16 62.5% - - - HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ACSM3 6296 genome.wustl.edu 37 16 20796428 20796428 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005622.3 +1 validated p.T381M 1.000 320 0% 200 28.5% 19 26.3% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like LOC81691 81691 genome.wustl.edu 37 16 20833151 20833151 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030941.2 +1 validated p.G181 0.823 266 0% 140 28.6% 1 0% - - - NULL LOC81691 81691 genome.wustl.edu 37 16 20856128 20856128 + Missense_Mutation SNP G G T rs181905689 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030941.2 +1 validated p.D633Y 1.000 218 0% 158 30.4% 4 0% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMSmart_SM00360,superfamily_RNA-binding domain RBD LOC81691 81691 genome.wustl.edu 37 16 20857573 20857573 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030941.2 +1 validated p.A719T 0.996 489 0% 330 25.5% 5 20% benign(0.019) deleterious(0) neutral(0.446) NULL DCUN1D3 123879 genome.wustl.edu 37 16 20873479 20873479 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173475.2 -1 validated p.L128M 1.000 310 0% 206 26.7% 5 60% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DCUN1D3 123879 genome.wustl.edu 37 16 20873704 20873704 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173475.2 -1 validated p.V53I 0.588 342 0.6% 169 13.6% 8 12.5% benign(0.009) tolerated(0.24) neutral(0.038) NULL DNAH3 55567 genome.wustl.edu 37 16 20955880 20955880 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017539.1 -1 provisional p.L3817 1.000 261 0.8% 175 28% 0 - - - - HMMPfam_Dynein_heavy DNAH3 55567 genome.wustl.edu 37 16 20975431 20975431 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017539.1 -1 provisional p.A3259T 1.000 1036 0% 641 32.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DNAH3 55567 genome.wustl.edu 37 16 21061311 21061311 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017539.1 -1 provisional p.L1423I 1.000 334 0% 180 37.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH3 55567 genome.wustl.edu 37 16 21080737 21080737 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017539.1 -1 provisional p.A1127V 0.993 303 0% 219 27.4% 0 - benign(0.001) tolerated(1) - HMMPfam_DHC_N2 DNAH3 55567 genome.wustl.edu 37 16 21123104 21123104 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017539.1 -1 provisional p.R648W 0.965 157 0.6% 84 23.8% 0 - probably_damaging(0.984) deleterious(0.04) deleterious(0.779) NULL DNAH3 55567 genome.wustl.edu 37 16 21147646 21147646 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017539.1 -1 provisional p.I295 0.993 447 0% 250 28% 0 - - - - NULL DNAH3 55567 genome.wustl.edu 37 16 21152011 21152011 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017539.1 -1 provisional p.T181M 0.000 249 0% 117 33.3% 1 100% benign(0.011) tolerated(0.24) neutral(0.038) NULL ZP2 7783 genome.wustl.edu 37 16 21208817 21208817 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003460.1 -1 reviewed p.T741N 0.009 143 0% 78 30.8% 0 - possibly_damaging(0.808) deleterious(0.01) deleterious(0.710) NULL ANKS4B 257629 genome.wustl.edu 37 16 21261574 21261574 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145865.2 +1 validated p.N229 0.940 320 0% 177 11.9% 1 0% - - - NULL IGSF6 10261 genome.wustl.edu 37 16 21655706 21655706 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005849.2 -1 validated p.L147F 0.613 143 0% 99 13.1% 12 0% benign(0) tolerated(0.34) neutral(0.023) NULL ENSG00000248124 0 genome.wustl.edu 37 16 21822014 21822014 + RNA SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000514813 -1 novel NULL 0.051 29 0% 25 16% 3 0% - - - - UQCRC2 7385 genome.wustl.edu 37 16 21991977 21991977 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003366.2 +1 validated p.V412I 0.986 403 0.2% 271 25.1% 203 40.3% benign(0.007) tolerated(0.21) neutral(0.044) superfamily_LuxS/MPP-like metallohydrolase VWA3A 146177 genome.wustl.edu 37 16 22167205 22167205 + Frame_Shift_Del DEL A A - novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173615.3 +1 validated p.K1180fs 0.000 - - - - - - - - - NULL EEF2K 29904 genome.wustl.edu 37 16 22291669 22291669 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013302.3 +1 reviewed p.Y680 0.019 56 0% 26 30.8% 26 34.6% - - - HMMPfam_Sel1,superfamily_SSF81901 CDR2 1039 genome.wustl.edu 37 16 22360662 22360662 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001802.1 -1 validated p.K148 0.000 468 0% 258 32.6% 34 32.3% - - - NULL USP31 57478 genome.wustl.edu 37 16 23119485 23119485 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020718.3 -1 validated p.A218V 1.000 202 0% 118 22% 3 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_UCH,superfamily_Cysteine proteinases COG7 91949 genome.wustl.edu 37 16 23415063 23415063 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153603.3 -1 reviewed p.S585 0.001 93 0% 41 22% 43 39.5% - - - HMMPfam_COG7 COG7 91949 genome.wustl.edu 37 16 23430069 23430069 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153603.3 -1 reviewed p.G363 0.192 116 0% 63 36.5% 32 56.2% - - - HMMPfam_COG7 GGA2 23062 genome.wustl.edu 37 16 23490205 23490205 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015044.4 -1 reviewed p.M386T 0.295 146 0% 91 24.2% 58 43.1% unknown(0) - - NULL EARS2 124454 genome.wustl.edu 37 16 23535678 23535678 + RNA SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NR_003501.1 -1 validated NULL 0.000 185 0% 136 32.4% 25 36% - - - - PALB2 79728 genome.wustl.edu 37 16 23641267 23641267 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024675.3 -1 reviewed p.A736 0.021 278 0% 113 26.5% 19 42.1% - - - NULL PLK1 5347 genome.wustl.edu 37 16 23693411 23693411 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005030.3 +1 provisional p.P250H 1.000 360 0.3% 193 28% 56 53.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase PRKCB 5579 genome.wustl.edu 37 16 24135157 24135157 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002738.6 +1 reviewed p.R307M 1.000 381 0.3% 222 30.6% 0 - benign(0.008) tolerated(0.05) neutral(0.345) NULL PRKCB 5579 genome.wustl.edu 37 16 24166150 24166150 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002738.6 +1 reviewed p.T404I 1.000 67 0% 42 14.3% 3 0% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CACNG3 10368 genome.wustl.edu 37 16 24358116 24358116 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006539.2 +1 reviewed p.Q91H 0.947 151 0% 68 36.8% 0 - possibly_damaging(0.805) tolerated(0.24) neutral(0.340) HMMPfam_PMP22_Claudin CACNG3 10368 genome.wustl.edu 37 16 24372855 24372855 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006539.2 +1 reviewed p.L207V 0.945 431 0% 215 24.7% 0 - benign(0.022) tolerated(0.4) neutral(0.017) NULL RBBP6 5930 genome.wustl.edu 37 16 24560282 24560282 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006910.4 +1 reviewed p.A95S 1.000 67 0% 44 31.8% 15 13.3% benign(0.004) tolerated(0.85) neutral(0.001) NULL RBBP6 5930 genome.wustl.edu 37 16 24567141 24567141 + Splice_Site SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006910.4 +1 reviewed e6-1 1.000 282 0% 153 28.1% 0 - - - - - RBBP6 5930 genome.wustl.edu 37 16 24573144 24573144 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006910.4 +1 reviewed e10-1 1.000 292 0% 188 35.6% 2 50% - - - - TNRC6A 27327 genome.wustl.edu 37 16 24834277 24834277 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014494.2 +1 reviewed p.A1819V 1.000 373 0% 191 23.6% 25 44% probably_damaging(0.992) deleterious(0) deleterious(0.892) superfamily_RNA-binding domain RBD AQP8 343 genome.wustl.edu 37 16 25228522 25228522 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001169.2 +1 reviewed p.A6T 0.000 97 0% 63 17.5% 0 - benign(0.001) deleterious(0.04) neutral(0.349) NULL HS3ST4 9951 genome.wustl.edu 37 16 26147303 26147303 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000331351 +1 known p.A369T 1.000 435 0.2% 264 12.9% 0 - possibly_damaging(0.808) tolerated(0.54) neutral(0.311) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases C16orf82 162083 genome.wustl.edu 37 16 27078216 27078216 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000505035 +1 known p.T30I 1.000 229 0% 113 26.5% 0 - - - - NULL NSMCE1 197370 genome.wustl.edu 37 16 27268865 27268865 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145080.3 -1 validated p.G9 0.007 168 0% 98 24.5% 77 36.3% - - - NULL GTF3C1 2975 genome.wustl.edu 37 16 27506679 27506679 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001520.3 -1 validated p.R829W 0.004 60 0% 39 15.4% 11 36.3% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL GTF3C1 2975 genome.wustl.edu 37 16 27519889 27519889 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001520.3 -1 validated p.R405Q 1.000 117 0% 75 25.3% 12 33.3% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_B-block_TFIIIC KIAA0556 23247 genome.wustl.edu 37 16 27761018 27761018 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015202.2 +1 validated p.R913C 0.987 466 0% 193 28.5% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA0556 23247 genome.wustl.edu 37 16 27761457 27761457 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015202.2 +1 validated p.S1059Y 0.446 292 0% 148 12.8% 11 9% benign(0) tolerated(1) - superfamily_Galactose-binding domain-like KIAA0556 23247 genome.wustl.edu 37 16 27781245 27781245 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015202.2 +1 validated p.R1347W 1.000 225 0% 103 27.2% 7 14.2% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Galactose-binding domain-like CCDC101 112869 genome.wustl.edu 37 16 28602125 28602125 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138414.2 +1 validated p.P212T 1.000 86 0% 37 13.5% 27 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF1325 SH2B1 25970 genome.wustl.edu 37 16 28878069 28878069 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015503.2 +1 reviewed p.T218 0.002 55 0% 30 40% 14 42.8% - - - NULL SH2B1 25970 genome.wustl.edu 37 16 28883854 28883854 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015503.2 +1 reviewed e7-1 1.000 120 0% 62 32.3% 0 - - - - - ATP2A1 487 genome.wustl.edu 37 16 28914724 28914724 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173201.2 +1 reviewed p.D981 0.860 93 0% 49 20.4% 2 0% - - - HMMPfam_Cation_ATPase_C,superfamily_Calcium ATPase transmembrane domain M RABEP2 79874 genome.wustl.edu 37 16 28922305 28922305 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024816.2 -1 validated p.M331I 1.000 32 0% 23 21.7% 24 50% benign(0.132) tolerated(0.83) neutral(0.011) NULL SPNS1 83985 genome.wustl.edu 37 16 28993318 28993318 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142448.1 +1 validated p.R302 0.732 95 0% 37 40.5% 87 37.9% - - - superfamily_MFS general substrate transporter LOC100289169 100289169 genome.wustl.edu 37 16 29063565 29063565 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002343436.1 +1 model p.T56I 0.003 446 0% 295 18% 0 - possibly_damaging(0.604) tolerated(0.21) neutral(0.254) HMMPfam_NPIP RRN3P2 653390 genome.wustl.edu 37 16 29108628 29108628 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000427965 +1 known p.L361M 1.000 664 0% 460 13.9% 8 0% benign(0.116) tolerated(0.19) neutral(0.059) HMMPfam_RRN3 LOC728888 728888 genome.wustl.edu 37 16 29394441 29394441 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002343430.1 -1 model p.S604 0.002 263 0.4% 158 25.9% 2 0% - - - NULL LOC728888 728888 genome.wustl.edu 37 16 29394574 29394574 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002343430.1 -1 model p.P560H 0.000 479 0% 250 11.2% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_NPIP LOC728888 728888 genome.wustl.edu 37 16 29395548 29395548 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002343430.1 -1 model p.T235 0.004 742 0% 392 17.3% 1 0% - - - HMMPfam_NPIP SPN 6693 genome.wustl.edu 37 16 29675529 29675529 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001030288.1 +1 validated p.T160 0.041 245 0.4% 128 13.3% 4 0% - - - NULL KIF22 3835 genome.wustl.edu 37 16 29814217 29814217 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007317.1 +1 reviewed p.V470M 0.996 116 0% 40 12.5% 55 25.4% possibly_damaging(0.848) tolerated(0.11) deleterious(0.597) NULL KIF22 3835 genome.wustl.edu 37 16 29815374 29815374 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007317.1 +1 reviewed p.G555 0.980 157 0% 68 29.4% 65 50.7% - - - NULL TAOK2 9344 genome.wustl.edu 37 16 29990619 29990619 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016151.2 +1 validated p.T185A 1.000 310 0% 145 25.5% 43 44.1% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase TBX6 6911 genome.wustl.edu 37 16 30099890 30099890 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004608.3 -1 reviewed p.R272Q 1.000 123 0% 56 28.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd TBC1D10B 26000 genome.wustl.edu 37 16 30376851 30376851 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015527.3 -1 validated p.N341D 0.999 83 0% 37 18.9% 35 42.8% benign(0.009) tolerated(0.17) neutral(0.059) superfamily_Ypt/Rab-GAP domain of gyp1p MYLPF 29895 genome.wustl.edu 37 16 30387497 30387497 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013292.3 +1 provisional p.G43V 1.000 45 0% 30 26.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand ZNF48 197407 genome.wustl.edu 37 16 30409636 30409636 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000495929 +1 known p.R485* 0.015 62 0% 30 36.7% 17 52.9% - - - superfamily_C2H2 and C2HC zinc fingers SEPHS2 22928 genome.wustl.edu 37 16 30456076 30456076 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000418751 -1 known p.H207Y 1.000 215 0% 97 30.9% 151 45.6% possibly_damaging(0.943) deleterious(0) deleterious(0.832) HMMPfam_AIRS_C,superfamily_AIR_synth_C ITGAL 3683 genome.wustl.edu 37 16 30515584 30515584 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002209.2 +1 reviewed p.A745V 0.000 132 0% 79 34.2% 5 0% benign(0) tolerated(0.43) neutral(0.013) HMMPfam_Integrin_alpha2,superfamily_Integrin domains FBRS 64319 genome.wustl.edu 37 16 30680827 30680827 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001105079.1 +1 validated p.P415H 0.351 110 0% 42 23.8% 59 57.6% unknown(0) deleterious(0) - NULL SRCAP 10847 genome.wustl.edu 37 16 30734432 30734432 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006662.2 +1 validated p.T1347 0.116 665 0.2% 315 26% 30 43.3% - - - NULL SRCAP 10847 genome.wustl.edu 37 16 30744624 30744624 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006662.2 +1 validated p.L2051M 1.000 175 0% 125 30.4% 49 42.8% unknown(0) - - superfamily_P-loop containing nucleoside triphosphate hydrolases SRCAP 10847 genome.wustl.edu 37 16 30748679 30748679 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006662.2 +1 validated p.A2440S 0.002 61 0% 45 13.3% 79 8.8% unknown(0) - - NULL RNF40 9810 genome.wustl.edu 37 16 30777583 30777583 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014771.2 +1 reviewed p.R365W 0.996 39 0% 30 40% 47 46.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RNF40 9810 genome.wustl.edu 37 16 30779996 30779996 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014771.2 +1 reviewed p.A679V 0.998 65 0% 38 10.5% 69 8.6% benign(0.012) tolerated(0.82) neutral(0.001) NULL RNF40 9810 genome.wustl.edu 37 16 30780224 30780224 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014771.2 +1 reviewed p.I721 0.998 56 0% 41 34.1% 53 33.9% - - - NULL BCL7C 9274 genome.wustl.edu 37 16 30904015 30904015 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004765.2 -1 reviewed p.E112* 0.998 110 0% 45 28.9% 57 17.5% - - - NULL ORAI3 93129 genome.wustl.edu 37 16 30964968 30964968 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152288.2 +1 validated p.A231S 0.000 151 0% 67 32.8% 9 22.2% benign(0.001) tolerated(0.58) neutral(0.005) HMMPfam_DUF1650 SETD1A 9739 genome.wustl.edu 37 16 30976484 30976484 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014712.1 +1 provisional p.E474G 1.000 52 0% 32 18.8% 16 50% possibly_damaging(0.936) - - NULL SETD1A 9739 genome.wustl.edu 37 16 30977164 30977164 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014712.1 +1 provisional p.P654 1.000 39 0% 23 47.8% 7 57.1% - - - NULL SETD1A 9739 genome.wustl.edu 37 16 30990868 30990868 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014712.1 +1 provisional p.A1254V 0.926 22 0% 12 50% 19 73.6% unknown(0) - - NULL SETD1A 9739 genome.wustl.edu 37 16 30992154 30992154 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014712.1 +1 provisional p.K1559R 1.000 43 0% 16 50% 21 9.5% unknown(0) - - superfamily_SSF82199 STX4 6810 genome.wustl.edu 37 16 31049311 31049311 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004604.3 +1 provisional p.Y148C 1.000 167 0% 89 33.7% 52 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SynN,superfamily_t-snare VKORC1 79001 genome.wustl.edu 37 16 31102480 31102480 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024006.4 -1 reviewed p.P156H 0.001 53 0% 38 26.3% 307 35.5% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) NULL BCKDK 10295 genome.wustl.edu 37 16 31121591 31121591 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005881.2 +1 validated p.K163N 1.000 38 0% 15 60% 60 50% possibly_damaging(0.442) tolerated(0.25) neutral(0.181) HMMPfam_BCDHK_Adom3,superfamily_alpha-ketoacid dehydrogenase kinase N-terminal domain PRSS8 5652 genome.wustl.edu 37 16 31143758 31143758 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002773.3 -1 reviewed p.A233T 1.000 186 0% 89 33.7% 338 44.9% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys,PatternScan_TRYPSIN_SER ITGAM 3684 genome.wustl.edu 37 16 31288029 31288029 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000632.3 +1 reviewed p.E349D 1.000 53 0% 36 11.1% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF69318 ITGAM 3684 genome.wustl.edu 37 16 31289410 31289410 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000632.3 +1 reviewed p.A446T 0.000 57 0% 29 34.5% 0 - benign(0.043) tolerated(1) neutral(0.003) HMMSmart_Int_alpha,superfamily_SSF69318 ITGAM 3684 genome.wustl.edu 37 16 31341891 31341891 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000632.3 +1 reviewed p.L1081M 0.000 139 0% 68 33.8% 3 0% possibly_damaging(0.64) tolerated(0.19) neutral(0.274) NULL ITGAX 3687 genome.wustl.edu 37 16 31368406 31368406 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000887.3 +1 reviewed p.S101I 0.000 17 0% 15 40% 5 0% benign(0.046) tolerated(0.12) neutral(0.263) superfamily_SSF69318 ITGAX 3687 genome.wustl.edu 37 16 31374046 31374046 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000887.3 +1 reviewed p.R444K 0.017 41 0% 29 27.6% 3 0% benign(0) tolerated(0.34) neutral(0.023) HMMSmart_Int_alpha,superfamily_SSF69318 ITGAD 3681 genome.wustl.edu 37 16 31429822 31429822 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005353.2 +1 validated p.S906N 0.007 67 0% 34 44.1% 0 - benign(0.006) tolerated(0.42) neutral(0.014) HMMPfam_Integrin_alpha2,superfamily_Integrin domains SLC5A2 6524 genome.wustl.edu 37 16 31496206 31496206 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003041.3 +1 reviewed p.A89T 1.000 47 0% 21 28.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_SSF SLC5A2 6524 genome.wustl.edu 37 16 31497550 31497550 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003041.3 +1 reviewed p.A176 0.999 93 0% 42 11.9% 0 - - - - HMMPfam_SSF,PatternScan_NA_SOLUT_SYMP_1 ZNF267 10308 genome.wustl.edu 37 16 31926107 31926107 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003414.4 +1 validated p.E179D 0.941 233 0.4% 158 15.8% 1 0% benign(0.008) deleterious(0.05) neutral(0.345) NULL ENSG00000197476 0 genome.wustl.edu 37 16 31985203 31985203 + Splice_Site SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000356559 +1 known e3+1 0.769 227 0% 151 18.5% 0 - - - - - IGHV2OR16-5 100129631 genome.wustl.edu 37 16 32859364 32859364 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000398679 +1 known p.T82M 0.000 113 0% 40 20% 0 - possibly_damaging(0.87) deleterious(0.01) deleterious(0.744) HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin SHCBP1 79801 genome.wustl.edu 37 16 46638372 46638372 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024745.4 -1 validated p.H231Y 1.000 343 0% 197 30.5% 8 0% benign(0.001) tolerated(1) - NULL VPS35 55737 genome.wustl.edu 37 16 46695765 46695765 + Silent SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018206.4 -1 reviewed p.G692 1.000 290 0.3% 186 29.6% 109 11.9% - - - HMMPfam_Vps35 MYLK3 91807 genome.wustl.edu 37 16 46762936 46762936 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182493.2 -1 validated p.Y591C 1.000 173 0% 87 20.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase PHKB 5257 genome.wustl.edu 37 16 47644795 47644795 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000293.2 +1 reviewed p.K474 1.000 184 0% 105 34.3% 31 74.1% - - - HMMPfam_PHK_AB PHKB 5257 genome.wustl.edu 37 16 47703321 47703321 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000293.2 +1 reviewed p.R875* 1.000 399 0.3% 242 26% 27 11.1% - - - HMMPfam_PHK_AB ABCC11 85320 genome.wustl.edu 37 16 48248824 48248824 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032583.3 -1 reviewed p.T406A 0.166 191 0% 112 17.9% 0 - benign(0.157) tolerated(0.31) neutral(0.041) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ABCC11 85320 genome.wustl.edu 37 16 48258306 48258306 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032583.3 -1 reviewed p.R144* 0.000 384 0% 167 22.2% 0 - - - - superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain LONP2 83752 genome.wustl.edu 37 16 48381504 48381504 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031490.2 +1 provisional p.S675 0.995 163 0% 92 20.7% 21 0% - - - HMMPfam_Lon_C,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_SSF52540 ZNF423 23090 genome.wustl.edu 37 16 49672702 49672702 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015069.2 -1 reviewed p.D121Y 1.000 34 0% 16 31.2% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL HEATR3 55027 genome.wustl.edu 37 16 50118058 50118058 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182922.2 +1 provisional p.D382 0.935 201 0% 126 10.3% 12 8.3% - - - superfamily_ARM repeat SNX20 124460 genome.wustl.edu 37 16 50707937 50707937 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182854.2 -1 validated p.A111T 0.983 88 0% 38 34.2% 4 0% possibly_damaging(0.911) deleterious(0.01) deleterious(0.768) HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain NOD2 64127 genome.wustl.edu 37 16 50733722 50733722 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022162.1 +1 reviewed p.D133Y 0.976 85 0% 31 32.3% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_CARD,superfamily_DEATH domain TOX3 27324 genome.wustl.edu 37 16 52473259 52473259 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080430.2 -1 reviewed p.A537T 0.050 55 0% 36 27.8% 4 25% unknown(0) tolerated(1) - NULL TOX3 27324 genome.wustl.edu 37 16 52473825 52473825 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080430.2 -1 reviewed p.A348V 1.000 293 0% 154 39% 7 57.1% probably_damaging(0.958) tolerated(0.07) deleterious(0.721) superfamily_HMG-box CHD9 80205 genome.wustl.edu 37 16 53190567 53190567 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025134.4 +1 validated p.G189E 1.000 470 0.2% 316 33.2% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RBL2 5934 genome.wustl.edu 37 16 53495691 53495691 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005611.3 +1 validated p.R462K 1.000 281 0% 145 15.9% 19 15.7% unknown(0) tolerated(1) - HMMPfam_RB_A,superfamily_Cyclin_like FTO 79068 genome.wustl.edu 37 16 53844129 53844129 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080432.2 +1 reviewed p.Q41H 1.000 414 0.2% 274 28.1% 7 42.8% probably_damaging(0.964) tolerated(0.17) neutral(0.465) NULL LPCAT2 54947 genome.wustl.edu 37 16 55565852 55565852 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017839.4 +1 reviewed p.C223 1.000 194 0% 168 29.8% 34 88.2% - - - HMMPfam_Acyltransferase,HMMSmart_SM00563,superfamily_Glycerol-3-phosphate (1)-acyltransferase SLC6A2 6530 genome.wustl.edu 37 16 55705912 55705912 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001043.3 +1 reviewed p.A157T 1.000 120 0% 81 34.6% 33 30.3% benign(0.333) deleterious(0.03) deleterious(0.469) HMMPfam_SNF CES1 1066 genome.wustl.edu 37 16 55857481 55857481 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001025195.1 -1 reviewed p.G174C 1.000 371 0% 218 10.6% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_COesterase,superfamily_SSF53474 CES1 1066 genome.wustl.edu 37 16 55857552 55857552 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001025195.1 -1 reviewed p.A150V 1.000 316 0% 186 19.4% 9 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_COesterase,superfamily_SSF53474 BBS2 583 genome.wustl.edu 37 16 56548549 56548549 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031885.3 -1 reviewed p.A54V 0.019 233 0% 133 21.1% 23 43.4% benign(0) tolerated(0.25) neutral(0.037) superfamily_WD40 repeat-like MT1F 4494 genome.wustl.edu 37 16 56693048 56693048 + Missense_Mutation SNP C C T rs139420918 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005949.3 +1 validated p.A53V 0.011 192 0% 91 22% 39 35.8% unknown(0) - - HMMPfam_Metallothio,superfamily_Metallothionein_sfam NUP93 9688 genome.wustl.edu 37 16 56855457 56855457 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014669.3 +1 validated p.Q202 1.000 226 0% 124 20.2% 48 41.6% - - - HMMPfam_Nic96 SLC12A3 6559 genome.wustl.edu 37 16 56916380 56916380 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000339.2 +1 reviewed p.C547Y 1.000 137 0% 77 18.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_AA_permease SLC12A3 6559 genome.wustl.edu 37 16 56936315 56936315 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000339.2 +1 reviewed p.P926 1.000 96 0% 49 44.9% 0 - - - - NULL NLRC5 84166 genome.wustl.edu 37 16 57088721 57088721 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032206.3 +1 validated p.L1189 0.259 588 0.3% 306 20.9% 4 0% - - - superfamily_RNI-like NLRC5 84166 genome.wustl.edu 37 16 57091998 57091998 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032206.3 +1 validated p.G1256 0.804 87 0% 49 34.7% 5 0% - - - HMMSmart_SM00368,HMMSmart_SM00367,superfamily_RNI-like PLLP 51090 genome.wustl.edu 37 16 57290917 57290917 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015993.2 -1 validated p.A153T 0.986 163 0% 87 19.5% 62 33.8% benign(0.1) tolerated(0.43) neutral(0.021) HMMPfam_MARVEL CIAPIN1 57019 genome.wustl.edu 37 16 57474772 57474772 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020313.2 -1 validated p.E23D 0.955 168 0% 116 27.6% 46 41.3% benign(0) tolerated(0.65) neutral(0.003) HMMPfam_DUF689 CCDC135 84229 genome.wustl.edu 37 16 57757011 57757011 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032269.5 +1 validated p.Y502* 1.000 39 0% 39 41% 0 - - - - NULL CNGB1 1258 genome.wustl.edu 37 16 57931757 57931757 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001297.4 -1 reviewed p.P1013H 1.000 457 0% 219 26.9% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_cNMP_binding,HMMSmart_SM00100,superfamily_cAMP-binding domain-like TEPP 374739 genome.wustl.edu 37 16 58011785 58011785 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_199046.2 +1 validated p.A77V 0.981 147 0% 87 33.3% 0 - benign(0.009) tolerated(0.07) neutral(0.320) NULL TEPP 374739 genome.wustl.edu 37 16 58011824 58011824 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_199046.2 +1 validated p.A90V 0.774 95 0% 47 19.1% 0 - possibly_damaging(0.948) deleterious(0.01) deleterious(0.796) NULL TEPP 374739 genome.wustl.edu 37 16 58019449 58019449 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_199046.2 +1 validated p.L278M 0.926 59 0% 26 23.1% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL C16orf80 29105 genome.wustl.edu 37 16 58150047 58150047 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013242.2 -1 validated p.Y58 0.436 232 0% 132 28% 41 43.9% - - - HMMPfam_DUF667 CCDC113 29070 genome.wustl.edu 37 16 58287994 58287994 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014157.3 +1 validated p.E107D 0.999 158 0% 95 27.4% 9 44.4% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) NULL SETD6 79918 genome.wustl.edu 37 16 58550468 58550468 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024860.2 +1 validated p.Y164C 0.951 37 0% 26 19.2% 26 26.9% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_SET,superfamily_SET domain CDH11 1009 genome.wustl.edu 37 16 64984852 64984852 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001797.2 -1 reviewed p.P571L 1.000 72 0% 56 10.7% 26 0% probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CDH11 1009 genome.wustl.edu 37 16 65032568 65032568 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001797.2 -1 reviewed p.E140 1.000 308 0% 150 25.3% 13 15.3% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CDH5 1003 genome.wustl.edu 37 16 66420804 66420804 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001795.3 +1 reviewed p.D101 0.832 81 0% 37 24.3% 8 0% benign(0.033) deleterious(0) neutral(0.446) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CDH5 1003 genome.wustl.edu 37 16 66426231 66426231 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001795.3 +1 reviewed p.P388T 0.613 273 0% 150 24.7% 3 0% possibly_damaging(0.538) tolerated(1) neutral(0.182) HMMPfam_Cadherin,superfamily_Cadherin-like CDH5 1003 genome.wustl.edu 37 16 66430022 66430022 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001795.3 +1 reviewed p.D426 0.405 169 0% 89 33.7% 3 0% - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CMTM2 146225 genome.wustl.edu 37 16 66613524 66613524 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144673.2 +1 reviewed p.A5V 0.000 69 0% 34 38.2% 0 - unknown(0) deleterious(0) - NULL CMTM2 146225 genome.wustl.edu 37 16 66621836 66621836 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144673.2 +1 reviewed p.A187 0.016 376 0% 230 10.9% 0 - - - - HMMPfam_MARVEL CA7 766 genome.wustl.edu 37 16 66885607 66885607 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005182.2 +1 reviewed p.A165V 0.997 67 0% 33 27.3% 0 - benign(0.003) tolerated(0.26) neutral(0.034) HMMPfam_Carb_anhydrase,superfamily_Euk_COanhd CDH16 1014 genome.wustl.edu 37 16 66946631 66946631 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004062.2 -1 reviewed p.P406 0.027 58 0% 22 22.7% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CDH16 1014 genome.wustl.edu 37 16 66947132 66947132 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004062.2 -1 reviewed p.P319H 0.944 199 0% 107 29% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CES3 23491 genome.wustl.edu 37 16 66997159 66997159 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024922.4 +1 validated p.D54Y 0.049 117 0% 62 32.3% 1 100% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases KIAA0895L 653319 genome.wustl.edu 37 16 67213971 67213971 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001040715.1 -1 validated p.C181 0.930 175 0% 88 11.4% 4 0% - - - NULL KIAA0895L 653319 genome.wustl.edu 37 16 67214441 67214441 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001040715.1 -1 validated p.R25C 0.006 66 0% 30 20% 8 62.5% benign(0.004) tolerated(0.14) neutral(0.249) NULL EXOC3L1 283849 genome.wustl.edu 37 16 67219045 67219045 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178516.3 -1 validated p.T581 0.000 26 0% 12 41.7% 3 0% - - - HMMPfam_Sec6 SLC9A5 6553 genome.wustl.edu 37 16 67292313 67292313 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004594.2 +1 validated p.R530M 1.000 33 3% 12 33.3% 0 - possibly_damaging(0.482) deleterious(0) deleterious(0.605) NULL PLEKHG4 25894 genome.wustl.edu 37 16 67319434 67319434 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001129727.1 +1 reviewed p.R813C 1.000 140 0% 58 15.5% 8 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) CTCF 10664 genome.wustl.edu 37 16 67645223 67645223 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006565.2 +1 reviewed p.G163E 1.000 292 0% 146 27.4% 28 39.2% probably_damaging(0.998) tolerated(0.15) deleterious(0.716) NULL ACD 65057 genome.wustl.edu 37 16 67691532 67691532 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001082486.1 -1 reviewed p.G538W 0.012 60 0% 22 22.7% 20 60% benign(0.063) deleterious(0.02) neutral(0.387) NULL RANBP10 57610 genome.wustl.edu 37 16 67761694 67761694 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020850.1 -1 provisional p.R527Q 0.995 69 0% 32 25% 21 33.3% probably_damaging(0.994) tolerated(0.37) deleterious(0.471) HMMSmart_CRA,HMMPfam_RanBPM_CRA TSNAXIP1 55815 genome.wustl.edu 37 16 67859112 67859112 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018430.2 +1 validated p.L197I 0.995 117 0% 51 21.6% 0 - probably_damaging(0.999) tolerated(0.14) deleterious(0.740) NULL EDC4 23644 genome.wustl.edu 37 16 67911221 67911221 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014329.3 +1 validated p.A185T 1.000 88 0% 28 42.9% 67 44.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like EDC4 23644 genome.wustl.edu 37 16 67912294 67912294 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014329.3 +1 validated p.R346W 0.798 168 0% 72 11.1% 54 20.3% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_SM00320,superfamily_WD40 repeat-like NFATC3 4775 genome.wustl.edu 37 16 68156017 68156017 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173165.1 +1 reviewed p.S77 0.893 525 0% 354 15.5% 11 18.1% - - - NULL ESRP2 80004 genome.wustl.edu 37 16 68266347 68266347 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024939.2 -1 validated p.R294H 1.000 116 0% 46 23.9% 9 33.3% probably_damaging(0.976) deleterious(0) deleterious(0.863) superfamily_SSF54928 SMPD3 55512 genome.wustl.edu 37 16 68398780 68398780 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018667.3 -1 validated p.D477N 1.000 35 0% 16 25% 8 37.5% benign(0) tolerated(0.31) neutral(0.027) HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos ZFP90 146198 genome.wustl.edu 37 16 68597930 68597930 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133458.2 +1 provisional p.R414G 1.000 295 0% 193 33.7% 8 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers TMCO7 79613 genome.wustl.edu 37 16 68912112 68912112 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024562.1 +1 validated p.R408H 0.087 152 0.7% 82 14.6% 1 100% benign(0.003) tolerated(0.41) neutral(0.015) superfamily_ARM repeat HAS3 3038 genome.wustl.edu 37 16 69148509 69148509 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005329.2 +1 reviewed p.T334 0.992 89 0% 36 22.2% 24 37.5% - - - superfamily_SSF53448 NOB1 28987 genome.wustl.edu 37 16 69783125 69783125 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014062.1 -1 provisional p.Q172H 1.000 161 0% 95 10.5% 148 18.2% possibly_damaging(0.774) tolerated(0.33) neutral(0.312) NULL WWP2 11060 genome.wustl.edu 37 16 69832615 69832615 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007014.3 +1 reviewed p.R34H 1.000 345 0.3% 232 25.4% 14 28.5% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB PDXDC2P 283970 genome.wustl.edu 37 16 70068236 70068236 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000325845 -1 known p.H139 0.981 267 0% 160 29.4% 23 0% - - - superfamily_PLP-dependent transferases PDPR 55066 genome.wustl.edu 37 16 70177428 70177428 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017990.3 +1 validated p.A541T 1.000 169 0% 107 15.9% 7 57.1% probably_damaging(0.987) tolerated(0.06) deleterious(0.759) HMMPfam_GCV_T,superfamily_SSF103025 ENSG00000205152 0 genome.wustl.edu 37 16 70254649 70254649 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000378955 -1 known p.T732K 1.000 29 0% 15 26.7% 8 62.5% - - - NULL ENSG00000205152 0 genome.wustl.edu 37 16 70265341 70265341 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000378955 -1 known p.H343 1.000 145 0.7% 120 17.5% 6 66.6% - - - NULL AARS 16 genome.wustl.edu 37 16 70305684 70305684 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001605.2 -1 reviewed p.R224M 1.000 98 0% 57 28.1% 75 1.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_tRNA-synt_2c,superfamily_SSF55681 ST3GAL2 6483 genome.wustl.edu 37 16 70422301 70422301 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006927.3 -1 reviewed p.A228T 1.000 275 0% 148 23% 8 37.5% benign(0) tolerated(0.95) - HMMPfam_Glyco_transf_29 COG4 25839 genome.wustl.edu 37 16 70514979 70514979 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015386.2 -1 validated p.E768D 1.000 30 0% 11 45.5% 97 38.1% possibly_damaging(0.882) tolerated(0.09) deleterious(0.641) NULL COG4 25839 genome.wustl.edu 37 16 70548291 70548291 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015386.2 -1 validated p.R164H 1.000 119 0% 66 31.8% 39 35.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SF3B3 23450 genome.wustl.edu 37 16 70573100 70573100 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012426.4 +1 reviewed p.F353L 1.000 255 0% 156 27.6% 74 56.7% benign(0.077) tolerated(0.06) neutral(0.328) NULL HYDIN 54768 genome.wustl.edu 37 16 70863566 70863566 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032821.2 -1 validated p.I4688 1.000 33 0% 36 22.2% 0 - - - - NULL HYDIN 54768 genome.wustl.edu 37 16 70955004 70955004 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032821.2 -1 validated p.G2424 0.000 398 0.5% 256 8.6% 0 - - - - NULL FTSJD1 55783 genome.wustl.edu 37 16 71319714 71319714 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001099642.1 -1 validated p.G37D 0.191 186 0.5% 93 29% 8 25% benign(0.282) tolerated(0.62) neutral(0.090) NULL PHLPP2 23035 genome.wustl.edu 37 16 71683714 71683714 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015020.2 -1 validated p.A1017 0.760 325 0.9% 195 33.8% 3 66.6% - - - HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C PHLPP2 23035 genome.wustl.edu 37 16 71689249 71689249 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015020.2 -1 validated p.L827F 1.000 377 0% 202 10.9% 2 0% possibly_damaging(0.631) deleterious(0.01) deleterious(0.626) HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain PHLPP2 23035 genome.wustl.edu 37 16 71703208 71703208 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015020.2 -1 validated p.S533N 1.000 323 0% 186 27.4% 1 0% possibly_damaging(0.531) tolerated(0.59) neutral(0.183) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_L domain-like PHLPP2 23035 genome.wustl.edu 37 16 71724422 71724422 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015020.2 -1 validated p.K203N 1.000 304 0% 171 22.8% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_PH domain-like PHLPP2 23035 genome.wustl.edu 37 16 71748506 71748506 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015020.2 -1 validated p.V65I 1.000 121 0.8% 77 10.4% 1 0% probably_damaging(0.963) deleterious(0) deleterious(0.850) NULL AP1G1 164 genome.wustl.edu 37 16 71790003 71790003 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001030007.1 -1 reviewed p.K386R 1.000 445 0.2% 288 28.1% 24 58.3% benign(0.003) tolerated(0.64) neutral(0.003) HMMPfam_Adaptin_N,superfamily_ARM repeat AP1G1 164 genome.wustl.edu 37 16 71803538 71803538 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001030007.1 -1 reviewed p.A210 0.932 446 0% 256 28.5% 22 54.5% - - - HMMPfam_Adaptin_N,superfamily_ARM repeat TXNL4B 54957 genome.wustl.edu 37 16 72120629 72120629 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142317.1 -1 validated p.I119 1.000 203 0% 138 29% 28 28.5% - - - HMMPfam_DIM1,superfamily_Thiordxn-like_fd DHX38 9785 genome.wustl.edu 37 16 72130873 72130873 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014003.3 +1 reviewed p.S159L 0.097 136 0% 90 37.8% 23 52.1% benign(0.119) tolerated(0.35) neutral(0.030) NULL ZFHX3 463 genome.wustl.edu 37 16 72830347 72830347 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006885.3 -1 reviewed p.P2078 0.198 70 1.4% 28 35.7% 6 66.6% - - - NULL ZFHX3 463 genome.wustl.edu 37 16 72830572 72830572 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006885.3 -1 reviewed p.E2003D 1.000 360 0% 176 30.1% 6 66.6% unknown(0) - - PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZFHX3 463 genome.wustl.edu 37 16 72831025 72831025 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006885.3 -1 reviewed p.Q1852 1.000 345 0% 175 29.1% 5 40% - - - NULL ZFHX3 463 genome.wustl.edu 37 16 72831358 72831360 + In_Frame_Del DEL TTG TTG - novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 TTG TTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006885.3 -1 reviewed p.Q1741in_frame_del 0.993:0.992:0.988 - - - - - - - - - NULL ZFHX3 463 genome.wustl.edu 37 16 72831870 72831870 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006885.3 -1 reviewed p.H1571Y 1.000 440 0% 212 29.2% 14 50% unknown(0) - - HMMSmart_SM00451,superfamily_C2H2 and C2HC zinc fingers ZFHX3 463 genome.wustl.edu 37 16 72984615 72984615 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006885.3 -1 reviewed p.R990H 1.000 182 0% 100 16% 11 9% unknown(0) - - HMMSmart_SM00451,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZFHX3 463 genome.wustl.edu 37 16 72991586 72991586 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006885.3 -1 reviewed p.R820H 1.000 159 0% 55 32.7% 6 50% unknown(0) - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZFHX3 463 genome.wustl.edu 37 16 72993170 72993170 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006885.3 -1 reviewed p.G292E 1.000 146 1.4% 81 27.2% 7 42.8% unknown(0) - - PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 GLG1 2734 genome.wustl.edu 37 16 74486141 74486141 + RNA SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NR_027264.1 -1 validated NULL 0.001 25 0% 10 70% 79 25.3% - - - - ENSG00000251794 0 genome.wustl.edu 37 16 74490474 74490474 + RNA SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000515985 +1 novel NULL 0.432 59 0% 41 34.1% 0 - - - - - GLG1 2734 genome.wustl.edu 37 16 74516961 74516961 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012201.5 -1 validated p.R545C 1.000 323 0% 233 29.6% 76 46% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Cys_rich_FGFR CFDP1 10428 genome.wustl.edu 37 16 75428995 75428995 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006324.2 -1 validated p.G215R 0.984 110 0.9% 52 36.5% 52 48% possibly_damaging(0.643) tolerated(0.15) neutral(0.467) NULL CFDP1 10428 genome.wustl.edu 37 16 75446454 75446454 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006324.2 -1 validated p.V127 0.066 1323 0.1% 778 25.7% 60 61.6% - - - NULL CHST5 23563 genome.wustl.edu 37 16 75563577 75563577 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024533.3 -1 validated p.A236T 0.131 31 0% 11 54.5% 0 - benign(0) tolerated(1) - HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases GABARAPL2 11345 genome.wustl.edu 37 16 75602094 75602094 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007285.6 +1 validated p.V84F 1.000 218 0% 93 9.7% 234 18.3% benign(0.398) deleterious(0.01) deleterious(0.534) HMMPfam_MAP1_LC3,superfamily_Ubiquitin-like KARS 3735 genome.wustl.edu 37 16 75662603 75662603 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130089.1 -1 reviewed p.A548D 1.000 76 0% 37 21.6% 389 42.6% benign(0.048) tolerated(0.65) neutral(0.006) HMMPfam_tRNA-synt_2,superfamily_SSF55681 TERF2IP 54386 genome.wustl.edu 37 16 75690141 75690141 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018975.3 +1 reviewed p.T278A 0.998 276 0% 140 25% 72 40.2% benign(0.021) tolerated(0.52) neutral(0.010) NULL CNTNAP4 85445 genome.wustl.edu 37 16 76509935 76509935 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033401.3 +1 reviewed p.A585V 1.000 98 0% 47 19.1% 0 - - - - NULL CNTNAP4 85445 genome.wustl.edu 37 16 76523715 76523715 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138994.3 +1 validated p.R599L 0.061 76 0% 46 17.4% 0 - benign(0.001) tolerated(0.76) neutral(0.001) superfamily_Concanavalin A-like lectins/glucanases ADAMTS18 170692 genome.wustl.edu 37 16 77326997 77326997 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_199355.2 -1 reviewed p.Q1055 1.000 187 0% 145 23.4% 0 - - - - HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat VAT1L 57687 genome.wustl.edu 37 16 77859199 77859199 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020927.1 +1 provisional p.C140 1.000 126 0% 106 39.6% 0 - - - - superfamily_GroES_like,HMMPfam_ADH_N WWOX 51741 genome.wustl.edu 37 16 79245600 79245600 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000402655 +1 known p.L169I 0.566 150 0% 74 18.9% 6 0% unknown(0) deleterious(0) - NULL MAF 4094 genome.wustl.edu 37 16 79632895 79632895 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005360.4 -1 reviewed p.A302V 1.000 47 0% 15 26.7% 9 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_bZIP_Maf,HMMSmart_BRLZ,superfamily_Euk_transcr_DNA C16orf46 123775 genome.wustl.edu 37 16 81095632 81095632 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152337.2 -1 validated p.L108F 0.008 315 0% 159 22% 1 0% possibly_damaging(0.605) deleterious(0) deleterious(0.654) NULL PKD1L2 114780 genome.wustl.edu 37 16 81204599 81204599 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001076780.1 -1 reviewed p.E953D 0.947 75 0% 58 19% 0 - possibly_damaging(0.913) tolerated(0.22) neutral(0.406) NULL PKD1L2 114780 genome.wustl.edu 37 16 81209235 81209235 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001076780.1 -1 reviewed p.T853M 0.014 242 0% 110 31.8% 0 - possibly_damaging(0.95) deleterious(0.02) deleterious(0.776) NULL BCMO1 53630 genome.wustl.edu 37 16 81298389 81298389 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017429.2 +1 reviewed p.P206S 0.155 140 0% 60 28.3% 1 0% benign(0.012) tolerated(0.09) neutral(0.297) HMMPfam_RPE65 GAN 8139 genome.wustl.edu 37 16 81398611 81398611 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022041.3 +1 reviewed p.I423 1.000 199 0% 113 18.6% 1 0% - - - HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central PLCG2 5336 genome.wustl.edu 37 16 81941355 81941355 + Missense_Mutation SNP G G T rs151013036 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002661.2 +1 validated p.Q511H 0.982 62 0% 34 20.6% 4 0% probably_damaging(0.991) tolerated(0.07) deleterious(0.763) superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_SSF50729 MPHOSPH6 10200 genome.wustl.edu 37 16 82182981 82182981 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005792.2 -1 validated p.H95Y 0.907 273 0% 169 29.6% 47 31.9% benign(0.005) deleterious(0.04) neutral(0.349) HMMPfam_MPP6 KCNG4 93107 genome.wustl.edu 37 16 84270764 84270764 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_172347.1 -1 reviewed p.E110K 1.000 118 0% 61 24.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_K_tetra,superfamily_POZ domain USP10 9100 genome.wustl.edu 37 16 84778938 84778938 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005153.2 +1 reviewed p.V284A 1.000 57 0% 32 12.5% 48 41.6% possibly_damaging(0.751) tolerated(0.2) neutral(0.325) NULL CRISPLD2 83716 genome.wustl.edu 37 16 84906631 84906631 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031476.3 +1 validated p.G339R 0.876 235 0% 121 28.1% 7 0% probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_LCCL,HMMSmart_SM00603,superfamily_LCCL domain FOXC2 2303 genome.wustl.edu 37 16 86601133 86601133 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005251.2 +1 reviewed p.P64 1.000 56 0% 27 37% 0 - - - - NULL FOXC2 2303 genome.wustl.edu 37 16 86601457 86601457 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005251.2 +1 reviewed p.D172 1.000 42 0% 17 29.4% 0 - - - - NULL FOXL1 2300 genome.wustl.edu 37 16 86612599 86612599 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005250.2 +1 validated p.R90 1.000 90 0% 32 18.8% 0 - - - - HMMPfam_Fork_head,HMMSmart_FH,superfamily_SSF46785 FBXO31 79791 genome.wustl.edu 37 16 87380857 87380857 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024735.3 -1 validated e3-1 1.000 309 0% 152 11.8% 0 - - - - - JPH3 57338 genome.wustl.edu 37 16 87678543 87678543 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020655.2 +1 reviewed p.L354 1.000 8 0.000 12 0.583 0 - - - - NULL SLC7A5 8140 genome.wustl.edu 37 16 87866581 87866581 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003486.5 -1 validated p.T507A 0.955 68 0% 37 10.8% 51 11.7% benign(0.066) deleterious(0.02) neutral(0.388) NULL ZNF778 197320 genome.wustl.edu 37 16 89294058 89294058 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182531.2 +1 validated p.C426 1.000 310 0.3% 173 27.7% 5 20% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF778 197320 genome.wustl.edu 37 16 89294590 89294590 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182531.2 +1 validated p.L604I 0.008 421 0% 201 35.3% 6 50% probably_damaging(0.964) deleterious(0.01) deleterious(0.812) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ANKRD11 29123 genome.wustl.edu 37 16 89348079 89348079 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013275.4 -1 validated p.A1624V 0.000 338 0% 179 19.6% 23 34.7% benign(0) deleterious(0.04) neutral(0.349) superfamily_Ankyrin repeat SPG7 6687 genome.wustl.edu 37 16 89597111 89597111 + Silent SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003119.2 +1 reviewed p.R294 0.796 116 0.9% 70 11.4% 32 3.1% - - - HMMPfam_FtsH_ext,superfamily_P-loop containing nucleoside triphosphate hydrolases SPG7 6687 genome.wustl.edu 37 16 89598392 89598392 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003119.2 +1 reviewed p.T356 0.001 21 0% 14 28.6% 33 30.3% - - - HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases CDK10 8558 genome.wustl.edu 37 16 89755724 89755724 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052988.4 +1 reviewed p.G51D 1.000 26 0% 12 41.7% 25 48% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase TUBB3 10381 genome.wustl.edu 37 16 90001642 90001642 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006086.2 +1 validated p.P261 0.015 52 0% 20 20% 23 26% - - - superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C TUBB3 10381 genome.wustl.edu 37 16 90001971 90001971 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006086.2 +1 validated p.S371N 1.000 152 0% 68 11.8% 19 0% benign(0.032) deleterious(0.03) neutral(0.366) superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C C17orf97 400566 genome.wustl.edu 37 17 263016 263016 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001013672.4 +1 validated p.R128C 0.412 229 0% 121 31.4% 14 14.2% probably_damaging(0.997) deleterious(0.03) deleterious(0.831) NULL GEMIN4 50628 genome.wustl.edu 37 17 650449 650449 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015721.2 -1 reviewed p.S278 0.001 112 0% 59 16.9% 28 50% - - - NULL GLOD4 51031 genome.wustl.edu 37 17 673290 673290 + Silent SNP G G A rs112396332 byCluster;byFrequency;by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016080.3 -1 validated p.A246 0.211 373 0% 215 33% 81 46.9% - - - HMMPfam_Glyoxalase,superfamily_SSF54593 GLOD4 51031 genome.wustl.edu 37 17 673382 673382 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016080.3 -1 validated p.D216Y 1.000 304 0% 165 10.3% 69 11.5% benign(0.354) deleterious(0.01) deleterious(0.518) HMMPfam_Glyoxalase,superfamily_SSF54593 RNMTL1 55178 genome.wustl.edu 37 17 686545 686545 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018146.2 +1 provisional p.L179 0.629 78 0% 47 36.2% 38 47.3% - - - HMMPfam_SpoU_sub_bind,superfamily_SSF55315 ABR 29 genome.wustl.edu 37 17 986862 986862 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021962.2 -1 reviewed p.S179 1.000 86 0% 40 40% 41 17% - - - HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) YWHAE 7531 genome.wustl.edu 37 17 1248739 1248739 + RNA SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NR_024058.1 -1 reviewed NULL 1.000 406 0.2% 254 27.2% 977 46.1% - - - - YWHAE 7531 genome.wustl.edu 37 17 1303472 1303472 + RNA SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NR_024058.1 -1 reviewed NULL 1.000 31 0% 16 25% 238 42.4% - - - - PRPF8 10594 genome.wustl.edu 37 17 1557250 1557250 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006445.3 -1 reviewed p.I2016 1.000 209 0% 73 19.2% 343 16.6% - - - NULL PRPF8 10594 genome.wustl.edu 37 17 1565229 1565229 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006445.3 -1 reviewed p.G1331 0.103 250 0% 117 35% 107 52.3% - - - HMMPfam_U5_2-snRNA_bdg PRPF8 10594 genome.wustl.edu 37 17 1565373 1565373 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006445.3 -1 reviewed p.E1283 1.000 291 0.3% 184 37.5% 107 50.4% - - - HMMPfam_U5_2-snRNA_bdg DPH1 1801 genome.wustl.edu 37 17 1936866 1936866 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001383.3 +1 validated p.Q48H 1.000 90 0% 54 22.2% 15 46.6% possibly_damaging(0.492) deleterious(0.02) deleterious(0.547) NULL TSR1 55720 genome.wustl.edu 37 17 2237977 2237977 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018128.4 -1 validated p.A257V 0.323 145 1.4% 50 30% 19 47.3% benign(0) tolerated(0.3) neutral(0.029) HMMPfam_AARP2CN,HMMSmart_AARP2CN LOC100288674 100288674 genome.wustl.edu 37 17 2600047 2600047 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002343499.1 +1 model p.L151F 1.000 32 0% 14 57.1% 41 46.3% - - - NULL OR1D4 653166 genome.wustl.edu 37 17 2966324 2966324 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003552.2 -1 provisional p.H211R 0.000 131 0% 72 30.6% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR1D2 4991 genome.wustl.edu 37 17 2995362 2995362 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002548.2 -1 validated p.R310M 0.006 482 0.2% 271 28.4% 0 - benign(0.313) tolerated(0.06) neutral(0.420) superfamily_SSF81321 ASPA 443 genome.wustl.edu 37 17 3402370 3402370 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000049.2 +1 reviewed p.C310* 0.571 149 0% 98 35.7% 0 - - - - NULL SHPK 23729 genome.wustl.edu 37 17 3518750 3518750 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013276.2 -1 reviewed p.A302V 0.987 64 0% 29 34.5% 9 33.3% benign(0.424) tolerated(0.15) neutral(0.379) superfamily_Actin-like ATPase domain SHPK 23729 genome.wustl.edu 37 17 3533564 3533564 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013276.2 -1 reviewed p.R82Q 0.014 38 0% 18 50% 1 0% benign(0.002) tolerated(0.82) neutral(0.001) HMMPfam_FGGY_N,superfamily_Actin-like ATPase domain GSG2 83903 genome.wustl.edu 37 17 3629303 3629303 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031965.2 +1 validated p.R692C 0.303 204 1% 111 26.1% 4 75% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) ITGAE 3682 genome.wustl.edu 37 17 3660423 3660423 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002208.4 -1 reviewed p.G342 0.152 342 0% 158 22.2% 1 0% - - - HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300,superfamily_SSF69318 CAMKK1 84254 genome.wustl.edu 37 17 3786429 3786429 + Silent SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_172207.2 -1 reviewed p.G185 0.773 43 0% 21 33.3% 6 33.3% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase P2RX1 5023 genome.wustl.edu 37 17 3802994 3802994 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002558.2 -1 reviewed p.C270Y 1.000 80 0% 27 25.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_P2X_receptor,PatternScan_P2X_RECEPTOR CYB5D2 124936 genome.wustl.edu 37 17 4047151 4047151 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144611.3 +1 validated p.G34 0.000 28 0% 14 42.9% 13 46.1% - - - superfamily_Cyt_B5 ANKFY1 51479 genome.wustl.edu 37 17 4088196 4088196 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016376.3 -1 validated p.D539V 0.109 123 0% 56 12.5% 12 8.3% benign(0.004) tolerated(0.11) neutral(0.272) NULL ANKFY1 51479 genome.wustl.edu 37 17 4111231 4111231 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016376.3 -1 validated p.S243 0.902 292 0% 158 23.4% 16 37.5% - - - superfamily_ANK MYBBP1A 10514 genome.wustl.edu 37 17 4442885 4442885 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001105538.1 -1 validated p.P1271H 0.009 274 0.4% 103 28.2% 58 36.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SMTNL2 342527 genome.wustl.edu 37 17 4495709 4495709 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001114974.1 +1 validated p.S151 0.000 23 0% 17 41.2% 0 - - - - NULL SMTNL2 342527 genome.wustl.edu 37 17 4496281 4496281 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001114974.1 +1 validated p.R182M 0.893 61 0% 15 33.3% 0 - possibly_damaging(0.509) deleterious(0.01) deleterious(0.576) NULL ALOX15 246 genome.wustl.edu 37 17 4541966 4541966 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001140.3 -1 validated p.A186T 0.142 113 0% 55 12.7% 0 - benign(0.005) tolerated(0.48) neutral(0.011) HMMPfam_Lipoxygenase,superfamily_Lipoxygenase PELP1 27043 genome.wustl.edu 37 17 4578237 4578237 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014389.2 -1 validated p.K430M 1.000 514 0% 267 30% 60 43.3% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_NUC202 PELP1 27043 genome.wustl.edu 37 17 4594286 4594286 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014389.2 -1 validated p.F106C 1.000 221 0% 141 38.3% 67 46.2% probably_damaging(0.989) tolerated(0.17) deleterious(0.498) HMMPfam_NUC201 PLD2 5338 genome.wustl.edu 37 17 4712817 4712817 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002663.3 +1 validated p.S195 0.974 129 0% 93 38.7% 21 47.6% - - - superfamily_PX domain MINK1 50488 genome.wustl.edu 37 17 4799630 4799630 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153827.4 +1 reviewed p.P1203H 1.000 105 0% 57 33.3% 56 39.2% possibly_damaging(0.948) deleterious(0) deleterious(0.836) HMMPfam_CNH,HMMSmart_SM00036 GP1BA 2811 genome.wustl.edu 37 17 4837470 4837470 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000173.5 +1 reviewed p.D511G 0.003 307 0.3% 174 11.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ENO3 2027 genome.wustl.edu 37 17 4858806 4858806 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001976.3 +1 reviewed p.D258N 1.000 653 0% 327 29.1% 6 16.6% benign(0.402) deleterious(0.03) deleterious(0.493) HMMPfam_Enolase_C,superfamily_Enolase C-terminal domain-like CAMTA2 23125 genome.wustl.edu 37 17 4873783 4873783 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015099.3 -1 validated p.R953W 1.000 468 0% 250 28.8% 11 54.5% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL CAMTA2 23125 genome.wustl.edu 37 17 4883116 4883116 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015099.3 -1 validated p.F501I 1.000 317 0% 150 18% 5 60% probably_damaging(0.98) deleterious(0.01) deleterious(0.830) NULL KIF1C 10749 genome.wustl.edu 37 17 4904107 4904107 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006612.5 +1 validated p.S49R 1.000 230 0% 107 10.3% 57 15.7% probably_damaging(0.992) tolerated(0.15) deleterious(0.689) HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 SLC52A1 55065 genome.wustl.edu 37 17 4936394 4936394 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001104577.1 -1 validated p.G402D 0.656 73 0% 42 28.6% 1 0% benign(0.066) tolerated(1) neutral(0.004) NULL ZFP3 124961 genome.wustl.edu 37 17 4994943 4994943 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153018.2 +1 validated p.E48D 0.001 326 0% 119 28.6% 0 - benign(0) deleterious(0.03) neutral(0.364) NULL RABEP1 9135 genome.wustl.edu 37 17 5238555 5238555 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004703.4 +1 validated p.E148D 0.802 201 0% 105 26.7% 33 42.4% benign(0.009) tolerated(0.21) neutral(0.044) HMMPfam_Rabaptin RABEP1 9135 genome.wustl.edu 37 17 5264689 5264689 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004703.4 +1 validated p.A428S 1.000 273 0% 141 31.2% 26 30.7% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL NUP88 4927 genome.wustl.edu 37 17 5294939 5294939 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002532.3 -1 reviewed p.L476M 0.993 126 0% 80 31.2% 70 32.8% possibly_damaging(0.691) deleterious(0.04) deleterious(0.597) HMMPfam_Nup88 NUP88 4927 genome.wustl.edu 37 17 5308489 5308489 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002532.3 -1 reviewed p.A311E 1.000 212 0% 110 33.6% 59 42.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Nup88 NLRP1 22861 genome.wustl.edu 37 17 5405159 5405159 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001033053.2 -1 reviewed p.C1368Y 0.000 177 0% 91 9.9% 1 0% benign(0.113) deleterious(0) neutral(0.454) NULL WSCD1 23302 genome.wustl.edu 37 17 6014150 6014150 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015253.1 +1 validated p.S357P 0.999 614 0% 331 15.1% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SSF52540 WSCD1 23302 genome.wustl.edu 37 17 6023684 6023684 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015253.1 +1 validated p.D477E 1.000 142 0% 63 11.1% 0 - benign(0.052) tolerated(0.24) neutral(0.041) superfamily_SSF52540 FAM64A 54478 genome.wustl.edu 37 17 6351012 6351012 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019013.1 +1 provisional p.R175Q 0.058 86 0% 38 23.7% 13 46.1% benign(0.29) tolerated(0.33) neutral(0.113) HMMPfam_DUF1466 PITPNM3 83394 genome.wustl.edu 37 17 6387539 6387539 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031220.3 -1 reviewed p.S116 0.047 158 0% 89 13.5% 4 25% - - - NULL KIAA0753 9851 genome.wustl.edu 37 17 6515273 6515273 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014804.2 -1 validated p.R504M 0.958 588 0% 417 30.5% 11 45.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SLC13A5 284111 genome.wustl.edu 37 17 6599224 6599224 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_177550.3 -1 validated p.K292N 0.000 175 0% 77 28.6% 0 - benign(0.001) tolerated(0.18) neutral(0.056) HMMPfam_Na_sulph_symp ALOX12 239 genome.wustl.edu 37 17 6913670 6913670 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000697.2 +1 validated p.A640 0.997 271 0% 137 31.4% 0 - - - - HMMPfam_Lipoxygenase,superfamily_Lipoxygenase ASGR2 433 genome.wustl.edu 37 17 7012090 7012090 + Splice_Site SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080913.2 -1 reviewed e2+1 0.983 91 0% 60 30% 0 - - - - - DLG4 1742 genome.wustl.edu 37 17 7106870 7106870 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001365.3 -1 reviewed p.R169 1.000 168 0% 109 26.6% 1 0% - - - HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ DLG4 1742 genome.wustl.edu 37 17 7107070 7107070 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001365.3 -1 reviewed p.P135 0.299 135 0.7% 67 34.3% 2 0% - - - HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ SLC2A4 6517 genome.wustl.edu 37 17 7187869 7187869 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001042.2 +1 reviewed p.R265W 1.000 119 0.8% 32 25% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Sugar_tr,superfamily_MFS_gen_substrate_transporter YBX2 51087 genome.wustl.edu 37 17 7193037 7193037 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015982.3 -1 validated p.R286S 1.000 72 0% 42 16.7% 6 33.3% possibly_damaging(0.804) deleterious(0.03) deleterious(0.667) NULL ACAP1 9744 genome.wustl.edu 37 17 7250513 7250513 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014716.3 +1 validated p.S432I 1.000 87 0% 33 24.2% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ArfGap,HMMSmart_ArfGap,superfamily_ArfGAP NLGN2 57555 genome.wustl.edu 37 17 7319075 7319075 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020795.2 +1 reviewed p.R428Q 1.000 251 0% 118 22% 11 27.2% probably_damaging(1) tolerated(0.19) deleterious(0.549) HMMPfam_COesterase,superfamily_SSF53474 ZBTB4 57659 genome.wustl.edu 37 17 7367081 7367081 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001128833.1 -1 validated p.P407L 1.000 89 0% 34 23.5% 24 4.1% probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL POLR2A 5430 genome.wustl.edu 37 17 7400726 7400726 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000937.3 +1 validated p.R291W 1.000 144 0% 84 23.8% 74 54% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_RNA_pol_Rpb1_1,superfamily_SSF64484 POLR2A 5430 genome.wustl.edu 37 17 7402440 7402440 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000937.3 +1 validated p.R473Q 1.000 254 0.4% 120 25.8% 104 40.3% probably_damaging(0.997) deleterious(0.04) deleterious(0.815) HMMPfam_RNA_pol_Rpb1_2,superfamily_SSF64484 POLR2A 5430 genome.wustl.edu 37 17 7404671 7404671 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000937.3 +1 validated p.T705N 1.000 504 0% 217 30.4% 122 52.4% possibly_damaging(0.824) tolerated(0.05) deleterious(0.657) superfamily_SSF64484 POLR2A 5430 genome.wustl.edu 37 17 7414824 7414824 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000937.3 +1 validated p.G1340S 1.000 101 0% 69 20.3% 185 45.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RNA_pol_Rpb1_5,superfamily_SSF64484 TNFSF12-TNFSF13 407977 genome.wustl.edu 37 17 7453498 7453498 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_172089.2 +1 reviewed p.R90Q 0.997 251 0% 110 28.2% 34 35.2% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL EIF4A1 1973 genome.wustl.edu 37 17 7480777 7480777 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001416.2 +1 validated p.R247H 1.000 218 0% 124 35.5% 1248 40.7% possibly_damaging(0.603) deleterious(0) deleterious(0.653) HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases MPDU1 9526 genome.wustl.edu 37 17 7490024 7490024 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004870.3 +1 reviewed p.A106V 1.000 170 0% 73 27.4% 137 46.7% benign(0.01) tolerated(0.21) neutral(0.044) NULL SOX15 6665 genome.wustl.edu 37 17 7491727 7491727 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006942.1 -1 reviewed p.A224V 0.134 128 0% 67 10.4% 2 0% benign(0.007) deleterious(0) neutral(0.445) NULL DNAH2 146754 genome.wustl.edu 37 17 7643239 7643239 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020877.2 +1 validated p.W453* 1.000 153 0% 67 29.9% 0 - - - - HMMPfam_DHC_N1 DNAH2 146754 genome.wustl.edu 37 17 7662752 7662752 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020877.2 +1 validated p.W821R 1.000 285 0% 142 26.1% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL DNAH2 146754 genome.wustl.edu 37 17 7674216 7674216 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020877.2 +1 validated p.I1443L 0.999 204 0% 135 30.4% 0 - benign(0) tolerated(0.42) neutral(0.014) HMMPfam_DHC_N2 DNAH2 146754 genome.wustl.edu 37 17 7680144 7680144 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020877.2 +1 validated p.K1665 1.000 55 0% 38 26.3% 0 - - - - NULL DNAH2 146754 genome.wustl.edu 37 17 7700837 7700837 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020877.2 +1 validated p.P2690H 0.994 451 0% 200 31% 0 - benign(0.039) tolerated(0.13) neutral(0.255) NULL DNAH2 146754 genome.wustl.edu 37 17 7710587 7710587 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020877.2 +1 validated p.R3188C 0.967 225 0.4% 132 19.7% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL KDM6B 23135 genome.wustl.edu 37 17 7748968 7748968 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080424.1 +1 provisional p.P32 1.000 120 0% 65 27.7% 11 54.5% - - - NULL CHD3 1107 genome.wustl.edu 37 17 7797492 7797492 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000452447 +1 known p.W199R 0.996 353 0% 178 10.7% 19 0% - - - NULL CHD3 1107 genome.wustl.edu 37 17 7808449 7808449 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005271.2 +1 reviewed p.E1427D 1.000 535 0% 268 28% 51 60.7% benign(0.041) - - HMMPfam_DUF1086 CNTROB 116840 genome.wustl.edu 37 17 7847814 7847814 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000380262 +1 known p.R531Q 0.539 199 0.5% 106 12.3% 23 13% probably_damaging(0.994) tolerated(0.1) deleterious(0.738) NULL ALOXE3 59344 genome.wustl.edu 37 17 8000061 8000061 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021628.2 -1 reviewed p.A674T 0.103 194 0% 117 28.2% 0 - benign(0.001) tolerated(0.61) neutral(0.004) HMMPfam_Lipoxygenase,superfamily_Lipoxygenase AURKB 9212 genome.wustl.edu 37 17 8108344 8108344 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004217.2 -1 validated p.A294T 0.000 102 0% 49 28.6% 46 52.1% benign(0) tolerated(0.11) neutral(0.272) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase AURKB 9212 genome.wustl.edu 37 17 8108544 8108544 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004217.2 -1 validated p.R284H 0.998 63 0% 27 37% 67 49.2% possibly_damaging(0.876) deleterious(0) deleterious(0.786) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CTC1 80169 genome.wustl.edu 37 17 8135416 8135416 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025099.5 -1 validated p.S730 1.000 123 0% 74 24.3% 9 66.6% - - - NULL PFAS 5198 genome.wustl.edu 37 17 8172123 8172123 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012393.2 +1 reviewed p.L1219 1.000 46 0% 20 35% 17 52.9% - - - superfamily_Class I glutamine amidotransferase-like SLC25A35 399512 genome.wustl.edu 37 17 8198089 8198089 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_201520.1 -1 provisional p.A13T 1.000 111 0% 58 24.1% 2 50% probably_damaging(0.973) deleterious(0) deleterious(0.859) superfamily_Mitoch_carrier,HMMPfam_Mito_carr ARHGEF15 22899 genome.wustl.edu 37 17 8215887 8215887 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173728.2 +1 reviewed p.A177V 0.003 51 0% 23 21.7% 4 0% benign(0) tolerated(0.23) neutral(0.042) NULL KRBA2 124751 genome.wustl.edu 37 17 8272905 8272905 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_213597.2 -1 provisional p.W342* 1.000 191 0% 90 27.8% 2 50% - - - superfamily_RNaseH_fold KRBA2 124751 genome.wustl.edu 37 17 8272950 8272950 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_213597.2 -1 provisional p.G327 0.437 214 0% 111 27.9% 0 - - - - superfamily_RNaseH_fold NDEL1 81565 genome.wustl.edu 37 17 8350158 8350158 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030808.3 +1 reviewed p.E109D 0.998 153 0.7% 115 25.2% 32 46.8% benign(0) tolerated(0.9) - NULL MYH10 4628 genome.wustl.edu 37 17 8379139 8379139 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005964.1 -1 validated p.P1972S 1.000 151 0% 78 28.2% 65 46.1% benign(0.004) tolerated(0.18) neutral(0.056) NULL MYH10 4628 genome.wustl.edu 37 17 8380302 8380302 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005964.1 -1 validated p.A1893V 1.000 45 0% 21 28.6% 55 36.3% benign(0.017) tolerated(0.47) neutral(0.011) HMMPfam_Myosin_tail_1 MYH10 4628 genome.wustl.edu 37 17 8417138 8417138 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005964.1 -1 validated p.L829S 1.000 322 0% 167 32.9% 11 45.4% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_P-loop containing nucleoside triphosphate hydrolases MYH10 4628 genome.wustl.edu 37 17 8421970 8421970 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005964.1 -1 validated p.C797Y 1.000 175 0% 118 29.7% 25 24% possibly_damaging(0.77) deleterious(0) deleterious(0.730) HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases MYH10 4628 genome.wustl.edu 37 17 8526441 8526441 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005964.1 -1 validated p.R42C 1.000 482 0% 343 29.2% 6 50% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_Myosin_N,superfamily_Myosin S1 fragment N-terminal domain PIK3R5 23533 genome.wustl.edu 37 17 8789891 8789891 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142633.1 -1 validated p.E646G 0.719 22 0% 13 46.2% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_PI3K_1B_p101 NTN1 9423 genome.wustl.edu 37 17 9083206 9083206 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004822.2 +1 reviewed p.T430 0.082 45 0% 22 27.3% 2 0% - - - HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,PatternScan_EGF_1,superfamily_SSF57196 GLP2R 9340 genome.wustl.edu 37 17 9757861 9757861 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004246.1 +1 reviewed p.G185E 1.000 669 0% 425 28.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_2,superfamily_SSF111418 MYH8 4626 genome.wustl.edu 37 17 10299770 10299770 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002472.2 -1 reviewed p.Q1510H 1.000 162 0% 95 34.7% 0 - benign(0.206) deleterious(0) neutral(0.465) HMMPfam_Myosin_tail_1 MYH8 4626 genome.wustl.edu 37 17 10304018 10304018 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002472.2 -1 reviewed p.L1142I 1.000 271 0% 165 31.5% 0 - possibly_damaging(0.929) tolerated(0.05) deleterious(0.722) HMMPfam_Myosin_tail_1 MYH4 4622 genome.wustl.edu 37 17 10362582 10362582 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017533.2 -1 validated p.E525K 1.000 415 0% 221 10.9% 0 - benign(0.33) deleterious(0) deleterious(0.548) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH1 4619 genome.wustl.edu 37 17 10399832 10399832 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005963.3 -1 reviewed p.R1564H 1.000 481 0% 272 24.3% 0 - benign(0.098) deleterious(0.02) neutral(0.391) HMMPfam_Myosin_tail_1 MYH1 4619 genome.wustl.edu 37 17 10408490 10408490 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005963.3 -1 reviewed p.V809M 1.000 344 0% 240 31.2% 0 - benign(0) tolerated(0.27) neutral(0.034) superfamily_SSF52540 MYH1 4619 genome.wustl.edu 37 17 10408617 10408617 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005963.3 -1 reviewed e19-1 1.000 330 0% 198 24.7% 0 - - - - - MYH1 4619 genome.wustl.edu 37 17 10409151 10409151 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005963.3 -1 reviewed p.L718F 0.997 204 0.5% 143 23.8% 0 - benign(0.021) deleterious(0.02) neutral(0.384) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH1 4619 genome.wustl.edu 37 17 10419296 10419296 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005963.3 -1 reviewed p.A151V 1.000 438 0.2% 256 32.8% 0 - probably_damaging(1) tolerated(0.75) deleterious(0.501) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH2 4620 genome.wustl.edu 37 17 10428592 10428595 + Frame_Shift_Del DEL TTTC TTTC - novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 TTTC TTTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001100112.1 -1 reviewed p.K1536fs 0.986:1.000:1.000:1.000 - - - - - - - - - HMMPfam_Myosin_tail_1 MYH2 4620 genome.wustl.edu 37 17 10440805 10440805 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001100112.1 -1 reviewed p.D548Y 1.000 277 0% 169 35.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH2 4620 genome.wustl.edu 37 17 10443245 10443245 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001100112.1 -1 reviewed p.V383F 1.000 475 0.2% 299 30.4% 0 - possibly_damaging(0.836) deleterious(0.03) deleterious(0.684) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH2 4620 genome.wustl.edu 37 17 10443319 10443319 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001100112.1 -1 reviewed p.A358V 1.000 474 0% 294 26.9% 0 - possibly_damaging(0.487) deleterious(0) deleterious(0.607) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH3 4621 genome.wustl.edu 37 17 10537414 10537414 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002470.2 -1 reviewed p.E1481G 1.000 408 0% 200 27% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Myosin_tail_1 MYH3 4621 genome.wustl.edu 37 17 10551904 10551904 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002470.2 -1 reviewed p.K235N 1.000 269 0% 138 29.7% 0 - possibly_damaging(0.856) deleterious(0) deleterious(0.775) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 MYH3 4621 genome.wustl.edu 37 17 10558264 10558264 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002470.2 -1 reviewed p.V40M 1.000 215 0% 107 29.9% 1 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Myosin_N SCO1 6341 genome.wustl.edu 37 17 10595204 10595204 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004589.2 -1 reviewed p.A214T 1.000 156 0% 78 14.1% 70 18.5% probably_damaging(0.965) tolerated(0.29) neutral(0.436) HMMPfam_SCO1-SenC,superfamily_Thiordxn-like_fd PIRT 644139 genome.wustl.edu 37 17 10728741 10728741 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001101387.1 -1 validated p.C74* 0.995 188 0% 92 22.8% 0 - - - - NULL DNAH9 1770 genome.wustl.edu 37 17 11522934 11522934 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001372.3 +1 reviewed p.V396L 0.747 571 0% 294 24.8% 0 - benign(0.002) tolerated(0.47) neutral(0.011) HMMPfam_DHC_N1 DNAH9 1770 genome.wustl.edu 37 17 11550474 11550474 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001372.3 +1 reviewed p.D686N 1.000 352 0% 190 13.2% 0 - benign(0.01) tolerated(0.21) neutral(0.044) HMMPfam_DHC_N1 DNAH9 1770 genome.wustl.edu 37 17 11572794 11572794 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001372.3 +1 reviewed p.Q1012 0.872 283 0% 159 25.2% 1 0% - - - NULL DNAH9 1770 genome.wustl.edu 37 17 11645566 11645566 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001372.3 +1 reviewed p.A2016V 1.000 378 0% 225 22.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH9 1770 genome.wustl.edu 37 17 11648149 11648149 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001372.3 +1 reviewed p.S2049 0.006 97 0% 71 28.2% 0 - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH9 1770 genome.wustl.edu 37 17 11711063 11711063 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001372.3 +1 reviewed p.R2812H 1.000 297 0.3% 143 11.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH9 1770 genome.wustl.edu 37 17 11725888 11725888 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001372.3 +1 reviewed p.R2995H 1.000 665 0% 381 24.4% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_P-loop containing nucleoside triphosphate hydrolases MIR744 100126313 genome.wustl.edu 37 17 11985276 11985276 + RNA SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000390234 +1 known NULL 0.936 56 0% 37 27% 0 - - - - - MAP2K4 6416 genome.wustl.edu 37 17 12016675 12016675 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003010.2 +1 reviewed p.A271T 1.000 242 0% 174 20.7% 20 30% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase LOC100128006 100128006 genome.wustl.edu 37 17 12666975 12666975 + RNA SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XR_078523.1 -1 model NULL 0.000 194 0% 93 29% 0 - - - - - ARHGAP44 9912 genome.wustl.edu 37 17 12799790 12799790 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014859.4 +1 validated p.L54M 1.000 51 0% 30 30% 1 100% probably_damaging(0.988) tolerated(0.1) deleterious(0.724) HMMPfam_BAR,HMMSmart_BAR PMP22 5376 genome.wustl.edu 37 17 15134242 15134242 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000304.2 -1 reviewed p.R159C 1.000 149 0% 71 26.8% 15 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TEKT3 64518 genome.wustl.edu 37 17 15207296 15207296 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031898.2 -1 reviewed p.R477H 1.000 117 0% 65 32.3% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Tektin TEKT3 64518 genome.wustl.edu 37 17 15234745 15234745 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031898.2 -1 reviewed p.S53N 0.999 335 0% 202 30.7% 0 - benign(0.006) tolerated(0.36) neutral(0.020) NULL CDRT1 374286 genome.wustl.edu 37 17 15492392 15492392 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006382.3 -1 provisional p.S719L 1.000 80 0% 39 38.5% 4 0% unknown(0) deleterious(0.01) - NULL CDRT1 374286 genome.wustl.edu 37 17 15508556 15508556 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006382.3 -1 provisional p.S472G 1.000 306 0% 201 27.4% 0 - unknown(0) deleterious(0) - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 CDRT1 374286 genome.wustl.edu 37 17 15517024 15517024 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006382.3 -1 provisional p.A302T 0.006 280 0% 151 21.2% 0 - unknown(0) tolerated(0.21) - HMMPfam_F-box,superfamily_F-box domain CDRT1 374286 genome.wustl.edu 37 17 15522386 15522386 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006382.3 -1 provisional p.K147N 0.000 348 0% 189 14.3% 0 - benign(0.009) tolerated(0.56) neutral(0.007) NULL TBC1D26 353149 genome.wustl.edu 37 17 15644498 15644498 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178571.4 +1 validated p.E203D 0.902 81 0% 29 24.1% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p PIGL 9487 genome.wustl.edu 37 17 16120681 16120681 + Silent SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004278.3 +1 reviewed p.I47 0.969 69 0% 35 42.9% 6 33.3% - - - HMMPfam_PIG-L,superfamily_LmbE-like TRPV2 51393 genome.wustl.edu 37 17 16329458 16329458 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016113.3 +1 reviewed p.L324I 1.000 97 0% 55 25.5% 7 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ANK RAI1 10743 genome.wustl.edu 37 17 17697345 17697345 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030665.3 +1 reviewed p.S361 0.045 99 0% 54 31.5% 9 44.4% - - - NULL MYO15A 51168 genome.wustl.edu 37 17 18062626 18062626 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016239.3 +1 reviewed p.S3065I 0.977 99 0% 50 16% 0 - unknown(0) deleterious(0) - HMMSmart_SM00139 LLGL1 3996 genome.wustl.edu 37 17 18145004 18145004 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004140.3 +1 reviewed p.S914 0.405 70 0% 29 20.7% 35 51.4% - - - NULL FBXW10 10517 genome.wustl.edu 37 17 18670128 18670128 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031456.3 +1 validated p.R553* 0.997 159 0% 111 9.9% 0 - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 MAPK7 5598 genome.wustl.edu 37 17 19284952 19284952 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002749.3 +1 reviewed p.A477D 0.992 58 0% 34 35.3% 19 57.8% unknown(0) deleterious(0) - NULL MAPK7 5598 genome.wustl.edu 37 17 19285765 19285765 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002749.3 +1 reviewed p.L717I 1.000 96 0% 40 17.5% 17 35.2% probably_damaging(0.971) deleterious(0) deleterious(0.857) NULL ALDH3A2 224 genome.wustl.edu 37 17 19564573 19564573 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001031806.1 +1 reviewed p.R311H 0.998 279 0% 177 11.9% 127 19.6% probably_damaging(0.998) tolerated(0.09) deleterious(0.771) HMMPfam_Aldedh,superfamily_Aldehyde_DH/Histidinol_DH ULK2 9706 genome.wustl.edu 37 17 19683922 19683922 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142610.1 -1 reviewed p.R927* 1.000 77 1.3% 51 23.5% 7 0% - - - NULL ULK2 9706 genome.wustl.edu 37 17 19684416 19684416 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142610.1 -1 reviewed p.R881W 1.000 90 0% 38 28.9% 5 20% probably_damaging(0.993) tolerated(0.08) deleterious(0.750) NULL SPECC1 92521 genome.wustl.edu 37 17 20107885 20107885 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001033553.1 +1 validated p.A175S 1.000 415 0% 233 31.3% 6 33.3% possibly_damaging(0.934) tolerated(0.11) deleterious(0.651) NULL DHRS7B 25979 genome.wustl.edu 37 17 21081606 21081606 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015510.3 +1 validated p.G87V 0.986 96 0% 44 22.7% 55 43.6% benign(0.03) tolerated(0.2) neutral(0.051) HMMPfam_adh_short,superfamily_NAD(P)-bd MAP2K3 5606 genome.wustl.edu 37 17 21201748 21201748 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145109.2 +1 reviewed p.L25I 0.849 186 0% 87 14.9% 26 0% benign(0.039) tolerated(0.1) neutral(0.288) NULL MAP2K3 5606 genome.wustl.edu 37 17 21207808 21207808 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145109.2 +1 reviewed p.G213 0.999 99 0% 47 10.6% 79 8.8% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase WSB1 26118 genome.wustl.edu 37 17 25628822 25628822 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015626.8 +1 reviewed p.R17C 1.000 497 0% 315 29.5% 21 38% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_WD40 repeat-like NLK 51701 genome.wustl.edu 37 17 26449732 26449732 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016231.4 +1 validated p.M188V 1.000 336 0% 253 27.3% 21 47.6% possibly_damaging(0.546) deleterious(0) deleterious(0.630) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_MAPK,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase IFT20 90410 genome.wustl.edu 37 17 26656253 26656253 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_174887.2 -1 provisional p.S127R 1.000 360 0% 178 38.8% 67 41.7% possibly_damaging(0.885) tolerated(0.06) deleterious(0.668) NULL TNFAIP1 7126 genome.wustl.edu 37 17 26666726 26666726 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021137.4 +1 reviewed p.R60H 1.000 52 0% 15 33.3% 24 33.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain SLC46A1 113235 genome.wustl.edu 37 17 26731650 26731650 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080669.3 -1 reviewed p.T355 0.122 79 0% 30 16.7% 8 25% - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter FOXN1 8456 genome.wustl.edu 37 17 26857783 26857783 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003593.2 +1 reviewed p.A283T 1.000 137 0% 75 22.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_Fork_head,HMMSmart_SM00339,superfamily_""Winged helix"" DNA-binding domain" SPAG5 10615 genome.wustl.edu 37 17 26906231 26906231 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006461.3 -1 reviewed p.Q1015H 1.000 327 0% 169 21.9% 33 48.4% benign(0) tolerated(0.19) neutral(0.050) NULL SPAG5 10615 genome.wustl.edu 37 17 26911223 26911223 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006461.3 -1 reviewed p.Q786L 0.872 330 0% 192 34.4% 26 46.1% benign(0.08) tolerated(1) neutral(0.005) NULL SPAG5 10615 genome.wustl.edu 37 17 26919147 26919147 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006461.3 -1 reviewed p.A372D 0.781 176 0% 110 11.8% 27 14.8% possibly_damaging(0.508) deleterious(0.01) deleterious(0.576) NULL KIAA0100 9703 genome.wustl.edu 37 17 26942817 26942817 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014680.2 -1 validated e38-1 1.000 111 0% 49 14.3% 0 - - - - - KIAA0100 9703 genome.wustl.edu 37 17 26944249 26944249 + Splice_Site SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014680.2 -1 validated e33+1 1.000 302 0% 153 23.5% 1 100% - - - - KIAA0100 9703 genome.wustl.edu 37 17 26955283 26955283 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014680.2 -1 validated p.G1532C 1.000 194 0% 108 28.7% 64 6.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL KIAA0100 9703 genome.wustl.edu 37 17 26959242 26959242 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014680.2 -1 validated p.R1274Q 1.000 440 0% 247 28.7% 64 65.6% possibly_damaging(0.941) tolerated(0.47) neutral(0.398) NULL SUPT6H 6830 genome.wustl.edu 37 17 27014457 27014457 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003170.3 +1 validated p.L992M 1.000 120 0% 48 14.6% 57 15.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL RPL23A 6147 genome.wustl.edu 37 17 27047818 27047818 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000984.5 +1 reviewed p.I40T 1.000 140 0% 70 24.3% 1263 43.5% benign(0.018) deleterious(0.03) neutral(0.365) HMMPfam_Ribosomal_L23eN NEK8 284086 genome.wustl.edu 37 17 27065746 27065746 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178170.2 +1 reviewed p.S427N 1.000 61 0% 33 36.4% 4 50% benign(0) tolerated(1) - superfamily_RCC1/BLIP-II ERAL1 26284 genome.wustl.edu 37 17 27186256 27186256 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005702.2 +1 provisional p.E382D 0.998 238 0% 133 28.6% 100 40% possibly_damaging(0.948) tolerated(0.49) neutral(0.402) superfamily_Prokaryotic type KH domain (KH-domain type II) SEZ6 124925 genome.wustl.edu 37 17 27286891 27286891 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178860.4 -1 validated p.C532* 1.000 43 0% 26 30.8% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain SEZ6 124925 genome.wustl.edu 37 17 27309001 27309001 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178860.4 -1 validated p.T38A 0.017 39 0% 21 28.6% 0 - benign(0.001) deleterious(0.05) neutral(0.345) NULL NUFIP2 57532 genome.wustl.edu 37 17 27613603 27613603 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020772.2 -1 validated p.S470N 1.000 194 0% 117 23.1% 30 43.3% benign(0.095) deleterious(0.02) neutral(0.390) NULL TAOK1 57551 genome.wustl.edu 37 17 27844611 27844611 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020791.1 +1 validated p.C615* 1.000 315 0.3% 220 31.4% 6 0% - - - superfamily_Protein kinase-like (PK-like) TAOK1 57551 genome.wustl.edu 37 17 27849522 27849522 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020791.1 +1 validated p.Q711 1.000 263 0% 142 29.6% 4 25% - - - superfamily_Protein kinase-like (PK-like) GIT1 28964 genome.wustl.edu 37 17 27902340 27902340 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001085454.1 -1 validated p.L668M 0.989 194 0.5% 84 16.7% 45 40% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL GIT1 28964 genome.wustl.edu 37 17 27903131 27903131 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001085454.1 -1 validated p.I553L 0.500 36 0% 23 21.7% 43 4.6% benign(0) tolerated(1) - NULL GIT1 28964 genome.wustl.edu 37 17 27903263 27903263 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001085454.1 -1 validated p.T538M 0.000 33 0% 21 38.1% 58 44.8% benign(0.061) tolerated(0.17) neutral(0.063) NULL GIT1 28964 genome.wustl.edu 37 17 27903619 27903619 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001085454.1 -1 validated p.A443V 1.000 34 0% 12 33.3% 53 52.8% benign(0.003) tolerated(0.52) neutral(0.009) NULL SSH2 85464 genome.wustl.edu 37 17 27963754 27963754 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033389.2 -1 reviewed p.P471 0.988 403 0% 228 25.4% 5 80% - - - NULL SLC6A4 6532 genome.wustl.edu 37 17 28539812 28539812 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001045.4 -1 reviewed p.G384S 1.000 177 0% 93 19.4% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNF CPD 1362 genome.wustl.edu 37 17 28772791 28772791 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001304.3 +1 reviewed p.D876Y 1.000 248 0.4% 180 12.8% 125 63.2% possibly_damaging(0.46) deleterious(0.04) deleterious(0.500) HMMSmart_Zn_pept ATAD5 79915 genome.wustl.edu 37 17 29185222 29185222 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024857.3 +1 provisional p.L946R 0.157 198 0% 126 33.3% 3 100% probably_damaging(0.983) deleterious(0.01) deleterious(0.835) NULL ATAD5 79915 genome.wustl.edu 37 17 29219742 29219742 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024857.3 +1 provisional p.A1459D 0.913 253 0% 158 29.1% 4 50% possibly_damaging(0.948) deleterious(0) deleterious(0.836) NULL NF1 4763 genome.wustl.edu 37 17 29533378 29533378 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001042492.2 +1 reviewed p.R461* 1.000 410 0% 261 30.3% 2 50% - - - NULL NF1 4763 genome.wustl.edu 37 17 29663721 29663721 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001042492.2 +1 reviewed p.H2072 1.000 139 0% 67 23.9% 4 25% - - - NULL NF1 4763 genome.wustl.edu 37 17 29670043 29670043 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001042492.2 +1 reviewed p.F2360C 1.000 244 0% 136 33.1% 10 10% possibly_damaging(0.7) deleterious(0.01) deleterious(0.657) NULL RAB11FIP4 84440 genome.wustl.edu 37 17 29849023 29849023 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032932.3 +1 validated p.L283 1.000 62 0% 44 31.8% 24 41.6% - - - NULL C17orf79 55352 genome.wustl.edu 37 17 30179200 30179200 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018405.3 -1 validated p.K171N 1.000 159 0% 103 34% 244 40.9% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL UTP6 55813 genome.wustl.edu 37 17 30226734 30226734 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018428.2 -1 validated p.K36 1.000 126 0% 63 17.5% 29 34.4% - - - HMMPfam_U3_assoc_6 SUZ12 23512 genome.wustl.edu 37 17 30320906 30320906 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015355.2 +1 reviewed p.R439M 1.000 229 0% 134 35.1% 50 46% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RHBDL3 162494 genome.wustl.edu 37 17 30648200 30648200 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000431505 +1 known p.H356Y 1.000 60 0% 40 25% 0 - unknown(0) - - NULL PSMD11 5717 genome.wustl.edu 37 17 30796078 30796078 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002815.2 +1 reviewed p.Q170H 1.000 210 0% 128 19.5% 108 48.1% benign(0.009) tolerated(0.42) neutral(0.015) HMMSmart_SM00753,superfamily_TPR-like CCL7 6354 genome.wustl.edu 37 17 32598794 32598794 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006273.2 +1 reviewed p.D91 0.996 147 0% 113 39.8% 0 - - - - superfamily_Chemokine_IL8 TMEM132E 124842 genome.wustl.edu 37 17 32959784 32959784 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207313.1 +1 provisional p.A425V 1.000 241 0% 124 16.9% 0 - probably_damaging(0.999) tolerated(1) deleterious(0.490) NULL TMEM132E 124842 genome.wustl.edu 37 17 32964708 32964708 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207313.1 +1 provisional p.L804 1.000 36 0% 21 23.8% 1 0% - - - NULL LIG3 3980 genome.wustl.edu 37 17 33319550 33319550 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013975.2 +1 reviewed p.A432T 1.000 244 0% 155 32.3% 28 64.2% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_DNA_ligase_A_N LIG3 3980 genome.wustl.edu 37 17 33319629 33319629 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013975.2 +1 reviewed p.A458V 1.000 151 0.7% 90 24.4% 20 25% benign(0.003) tolerated(0.26) neutral(0.034) NULL NLE1 54475 genome.wustl.edu 37 17 33463486 33463486 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018096.3 -1 validated p.G287S 0.666 197 0% 84 16.7% 20 5% possibly_damaging(0.454) tolerated(0.05) deleterious(0.494) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 SLC35G3 146861 genome.wustl.edu 37 17 33521123 33521123 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152462.2 -1 validated p.P68 1.000 260 0% 110 27.3% 0 - - - - HMMPfam_DUF6 SLFN5 162394 genome.wustl.edu 37 17 33591267 33591267 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144975.3 +1 validated p.G402* 0.605 164 0% 82 31.7% 9 22.2% - - - NULL SLFN5 162394 genome.wustl.edu 37 17 33592466 33592466 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144975.3 +1 validated p.L745 0.000 204 0% 118 30.5% 14 35.7% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases SLFN11 91607 genome.wustl.edu 37 17 33680414 33680414 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001104587.1 -1 validated p.H621Q 0.000 431 0% 232 20.7% 0 - possibly_damaging(0.855) tolerated(0.08) deleterious(0.630) superfamily_P-loop containing nucleoside triphosphate hydrolases SLFN11 91607 genome.wustl.edu 37 17 33689903 33689903 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001104587.1 -1 validated p.L308 0.185 369 0% 253 28.1% 1 0% - - - HMMPfam_AAA_4 SLFN13 146857 genome.wustl.edu 37 17 33772694 33772694 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144682.5 -1 validated p.E2D 0.392 207 0% 98 30.6% 0 - possibly_damaging(0.829) deleterious(0) deleterious(0.759) NULL AP2B1 163 genome.wustl.edu 37 17 33951593 33951593 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001030006.1 +1 reviewed p.R235W 1.000 250 0% 164 25.6% 100 43% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Adaptin_N,superfamily_ARM repeat TAF15 8148 genome.wustl.edu 37 17 34171358 34171358 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_139215.1 +1 reviewed p.R388H 0.999 214 0.5% 126 11.1% 63 17.4% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_Znf265 first zinc-finger domain RDM1 201299 genome.wustl.edu 37 17 34252565 34252565 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145654.3 -1 reviewed p.A118V 0.999 195 0.5% 114 10.5% 4 25% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_dsRNA-binding domain-like GGNBP2 79893 genome.wustl.edu 37 17 34937901 34937901 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024835.2 +1 validated p.N383S 1.000 284 0% 153 10.5% 53 0% possibly_damaging(0.903) tolerated(0.2) neutral(0.407) NULL AATF 26574 genome.wustl.edu 37 17 35311167 35311167 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012138.3 +1 reviewed p.K264N 1.000 306 0% 178 23.6% 53 41.5% possibly_damaging(0.62) deleterious(0.05) deleterious(0.561) NULL AATF 26574 genome.wustl.edu 37 17 35343919 35343919 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012138.3 +1 reviewed p.H279R 1.000 323 0.3% 187 24.6% 54 48.1% benign(0.004) tolerated(0.42) neutral(0.014) NULL ACACA 31 genome.wustl.edu 37 17 35518824 35518824 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198834.1 -1 reviewed p.S1740 1.000 1143 0% 641 29.3% 16 81.2% - - - HMMPfam_Carboxyl_trans,superfamily_SSF52096 ACACA 31 genome.wustl.edu 37 17 35603865 35603865 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198834.1 -1 reviewed p.T779 1.000 239 0% 164 29.3% 8 12.5% - - - NULL ACACA 31 genome.wustl.edu 37 17 35631151 35631151 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198834.1 -1 reviewed p.R314H 1.000 300 0% 187 31.6% 5 0% benign(0.051) tolerated(0.14) neutral(0.253) superfamily_SSF56059 DDX52 11056 genome.wustl.edu 37 17 35986018 35986018 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007010.2 -1 validated p.S353 1.000 178 0% 104 36.5% 28 35.7% - - - HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases GPR179 440435 genome.wustl.edu 37 17 36483965 36483965 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004334.2 -1 validated p.K1829N 0.001 480 0.2% 254 24% 0 - possibly_damaging(0.885) deleterious(0.02) deleterious(0.729) NULL MLLT6 4302 genome.wustl.edu 37 17 36876024 36876024 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005937.3 +1 validated p.P677 0.020 22 0% 10 60% 43 46.5% - - - NULL PIP4K2B 8396 genome.wustl.edu 37 17 36927432 36927432 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003559.4 -1 reviewed p.R301W 1.000 106 0% 67 28.4% 14 35.7% possibly_damaging(0.909) deleterious(0.02) deleterious(0.745) HMMPfam_PIP5K,HMMSmart_SM00330,superfamily_SAICAR synthase-like LASP1 3927 genome.wustl.edu 37 17 37074861 37074861 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006148.2 +1 validated p.R206W 1.000 109 0% 57 17.5% 53 11.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain FBXO47 494188 genome.wustl.edu 37 17 37118141 37118141 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001008777.2 -1 validated p.Y114C 1.000 221 0% 138 18.1% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL FLJ43826 342666 genome.wustl.edu 37 17 37187728 37187728 + RNA SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XR_040620.2 +1 model NULL 0.000 606 0.2% 349 31.2% 0 - - - - - FLJ43826 342666 genome.wustl.edu 37 17 37188512 37188512 + RNA SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XR_040620.2 +1 model NULL 0.000 305 0% 171 35.1% 0 - - - - - MED1 5469 genome.wustl.edu 37 17 37566690 37566690 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004774.3 -1 reviewed p.F595S 1.000 231 0% 137 31.4% 13 23% unknown(0) deleterious(0) - NULL MED1 5469 genome.wustl.edu 37 17 37571368 37571368 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004774.3 -1 reviewed p.Q470H 0.993 431 0% 295 27.8% 16 43.7% unknown(0) tolerated(0.08) - NULL CDK12 51755 genome.wustl.edu 37 17 37618487 37618487 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016507.2 +1 validated p.L55 0.024 113 0% 61 21.3% 9 22.2% - - - NULL PGAP3 93210 genome.wustl.edu 37 17 37842253 37842253 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033419.3 -1 validated p.D67E 1.000 102 0% 51 45.1% 9 77.7% benign(0.053) tolerated(1) neutral(0.004) HMMPfam_Per1 IKZF3 22806 genome.wustl.edu 37 17 37922199 37922199 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000439016 -1 known p.A412V 0.806 218 0.5% 109 27.5% 0 - - - - PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PSMD3 5709 genome.wustl.edu 37 17 38142880 38142880 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002809.2 +1 reviewed p.A155V 0.998 405 0% 223 31.8% 124 72.5% possibly_damaging(0.591) tolerated(0.13) neutral(0.457) superfamily_TPR-like PSMD3 5709 genome.wustl.edu 37 17 38151782 38151782 + Splice_Site SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002809.2 +1 reviewed e9+2 1.000 52 0% 29 24.1% 5 80% - - - - MED24 9862 genome.wustl.edu 37 17 38191472 38191472 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014815.3 -1 reviewed p.A153T 0.000 85 0% 38 23.7% 48 45.8% benign(0) tolerated(0.53) neutral(0.007) NULL MED24 9862 genome.wustl.edu 37 17 38209615 38209615 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014815.3 -1 reviewed p.A50V 1.000 423 0% 319 31.7% 73 46.5% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL THRA 7067 genome.wustl.edu 37 17 38244516 38244516 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003250.4 +1 reviewed p.I249V 1.000 157 0% 109 22% 34 32.3% benign(0) tolerated(0.28) neutral(0.032) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain TOP2A 7153 genome.wustl.edu 37 17 38552631 38552631 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001067.2 -1 reviewed p.A1208 0.824 206 0% 131 26.7% 35 60% - - - NULL IGFBP4 3487 genome.wustl.edu 37 17 38612770 38612770 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001552.2 +1 reviewed p.P238S 1.000 45 0% 25 28% 38 10.5% benign(0.091) tolerated(0.24) neutral(0.044) HMMPfam_Thyroglobulin_1,HMMSmart_TY,superfamily_Thyroglobulin_1 TNS4 84951 genome.wustl.edu 37 17 38633949 38633949 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032865.5 -1 validated p.E680A 0.046 247 0% 127 27.6% 6 33.3% possibly_damaging(0.737) tolerated(0.11) deleterious(0.541) HMMPfam_PTB,superfamily_SSF50729 CCR7 1236 genome.wustl.edu 37 17 38712013 38712013 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001838.2 -1 reviewed p.D40N 1.000 336 0% 172 30.2% 0 - probably_damaging(0.995) tolerated(0.2) deleterious(0.507) superfamily_Family A G protein-coupled receptor-like SMARCE1 6605 genome.wustl.edu 37 17 38785067 38785067 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003079.4 -1 reviewed p.D402 0.653 401 0% 258 25.6% 90 45.5% - - - NULL KRT25 147183 genome.wustl.edu 37 17 38906651 38906651 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181534.3 -1 reviewed p.L386I 1.000 604 0.2% 324 27.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Filament KRT23 25984 genome.wustl.edu 37 17 39081761 39081761 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015515.3 -1 reviewed p.M329I 1.000 133 0% 56 10.7% 52 7.6% benign(0.012) tolerated(1) neutral(0.001) HMMPfam_Filament KRT39 390792 genome.wustl.edu 37 17 39119934 39119934 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_213656.3 -1 reviewed p.A218V 0.409 397 0% 205 26.8% 0 - benign(0.001) tolerated(0.19) neutral(0.050) HMMPfam_Filament KRT40 125115 genome.wustl.edu 37 17 39135219 39135219 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182497.3 -1 reviewed p.A345T 1.000 260 0% 105 31.4% 1 0% probably_damaging(0.998) tolerated(0.16) deleterious(0.534) HMMPfam_Filament KRTAP3-2 83897 genome.wustl.edu 37 17 39155947 39155947 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031959.2 -1 reviewed p.P53 1.000 120 0% 110 18.2% 0 - - - - HMMPfam_Keratin_matx KRTAP1-3 81850 genome.wustl.edu 37 17 39190716 39190716 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030966.1 -1 reviewed p.L120 0.999 100 0% 51 43.1% 0 - - - - HMMPfam_Keratin_B2 KRTAP4-1 85285 genome.wustl.edu 37 17 39340717 39340717 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033060.2 -1 reviewed p.T111 0.992 149 0% 90 34.4% 0 - - - - HMMPfam_Keratin_B2 KRT33A 3883 genome.wustl.edu 37 17 39506870 39506870 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004138.2 -1 reviewed p.G50 1.000 144 0% 83 24.1% 0 - - - - NULL KRT32 3882 genome.wustl.edu 37 17 39619163 39619163 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002278.3 -1 reviewed p.Y379C 1.000 109 0% 65 21.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Filament KRT13 3860 genome.wustl.edu 37 17 39661616 39661616 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153490.2 -1 reviewed p.G63C 0.968 165 0% 81 30.9% 0 - unknown(0) tolerated(0.22) - NULL JUP 3728 genome.wustl.edu 37 17 39912451 39912451 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002230.2 -1 reviewed p.P688S 1.000 60 0% 36 52.8% 456 43.6% possibly_damaging(0.945) tolerated(0.51) neutral(0.399) NULL JUP 3728 genome.wustl.edu 37 17 39919433 39919433 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002230.2 -1 reviewed p.S433 0.540 67 1.5% 36 30.6% 338 44% - - - HMMPfam_Arm,HMMSmart_ARM,superfamily_ARM-type_fold JUP 3728 genome.wustl.edu 37 17 39923762 39923762 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002230.2 -1 reviewed p.A260T 0.999 87 0% 31 32.3% 391 43.4% possibly_damaging(0.931) deleterious(0) deleterious(0.822) HMMSmart_ARM,superfamily_ARM-type_fold NT5C3L 115024 genome.wustl.edu 37 17 39983784 39983784 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052935.4 -1 validated p.G213D 0.032 203 0% 86 36% 83 38.5% benign(0.167) tolerated(1) neutral(0.015) HMMPfam_UMPH-1,superfamily_HAD-like KLHL10 317719 genome.wustl.edu 37 17 39998481 39998481 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152467.3 +1 validated p.D201Y 1.000 165 0% 79 30.4% 0 - possibly_damaging(0.819) deleterious(0.01) deleterious(0.715) HMMPfam_BACK CNP 1267 genome.wustl.edu 37 17 40124026 40124026 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033133.4 +1 validated p.A265T 1.000 71 0% 24 25% 88 21.5% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_CNPase,superfamily_LigT-like ENSG00000247918 0 genome.wustl.edu 37 17 40125992 40125992 + RNA SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000499234 -1 novel NULL 0.009 37 0% 22 36.4% 54 40.7% - - - - DHX58 79132 genome.wustl.edu 37 17 40257048 40257048 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024119.2 -1 validated p.I463 1.000 74 0% 29 41.4% 7 28.5% - - - HMMPfam_Helicase_C,HMMSmart_HELICc,superfamily_SSF52540 KCNH4 23415 genome.wustl.edu 37 17 40321495 40321495 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012285.2 -1 reviewed p.E530 1.000 39 0% 22 18.2% 0 - - - - superfamily_cNMP_binding KCNH4 23415 genome.wustl.edu 37 17 40322175 40322175 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012285.2 -1 reviewed p.A447V 1.000 43 0% 34 38.2% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Ion_trans,superfamily_SSF81324 STAT5A 6776 genome.wustl.edu 37 17 40459723 40459723 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003152.3 +1 reviewed p.A630T 1.000 95 0% 52 13.5% 23 13% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SH2,HMMSmart_SH2,superfamily_SSF55550 STAT3 6774 genome.wustl.edu 37 17 40476842 40476842 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_139276.2 -1 reviewed p.P496L 1.000 81 0% 44 31.8% 63 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_p53-like transcription factors,HMMPfam_STAT_bind LOC100287926 100287926 genome.wustl.edu 37 17 40716673 40716673 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002343560.1 -1 model p.P2 0.000 132 0% 49 30.6% 0 - - - - NULL COASY 80347 genome.wustl.edu 37 17 40717751 40717751 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001042532.2 +1 validated p.S549 0.858 73 0% 23 30.4% 62 25.8% - - - HMMPfam_CoaE,superfamily_SSF52540 MLX 6945 genome.wustl.edu 37 17 40721376 40721376 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000432824 +1 known p.A114D 0.001 89 0% 36 36.1% 2 0% - - - NULL CNTNAP1 8506 genome.wustl.edu 37 17 40839026 40839026 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003632.2 +1 reviewed p.D336Y 0.994 39 0% 18 55.6% 5 20% benign(0.002) deleterious(0) neutral(0.445) NULL RAMP2 10266 genome.wustl.edu 37 17 40914633 40914633 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005854.2 +1 reviewed p.R97 0.000 156 0% 100 24% 28 3.5% - - - HMMPfam_RAMP WNK4 65266 genome.wustl.edu 37 17 40947667 40947667 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032387.4 +1 reviewed p.R1016H 1.000 233 0.4% 108 36.1% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL WNK4 65266 genome.wustl.edu 37 17 40947885 40947885 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032387.4 +1 reviewed p.D1089Y 0.205 97 0% 47 10.6% 2 50% unknown(0) - - NULL AOC2 314 genome.wustl.edu 37 17 40997575 40997575 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_009590.2 +1 reviewed p.S311L 0.638 310 0% 116 25.9% 4 25% benign(0.002) tolerated(0.39) neutral(0.016) HMMPfam_Cu_amine_oxid,superfamily_Amine oxidase catalytic domain AOC3 8639 genome.wustl.edu 37 17 41003377 41003377 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003734.2 +1 reviewed p.I6T 0.759 320 0% 136 27.9% 4 0% benign(0) tolerated(0.37) neutral(0.019) NULL AOC3 8639 genome.wustl.edu 37 17 41004133 41004133 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003734.2 +1 reviewed p.R258H 0.000 123 0% 42 26.2% 1 0% benign(0.001) tolerated(0.25) neutral(0.037) HMMPfam_Cu_amine_oxidN3,superfamily_Cu_amine_oxidase_N-reg AOC3 8639 genome.wustl.edu 37 17 41004822 41004822 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003734.2 +1 reviewed p.R488* 0.811 161 0% 73 28.8% 5 20% - - - HMMPfam_Cu_amine_oxid,superfamily_CuNH_oxidase BRCA1 672 genome.wustl.edu 37 17 41245828 41245828 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007294.3 -1 reviewed p.L574I 0.006 300 0.3% 190 27.4% 5 60% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL BRCA1 672 genome.wustl.edu 37 17 41258540 41258540 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007294.3 -1 reviewed p.L49M 1.000 118 0% 64 15.6% 7 57.1% possibly_damaging(0.873) tolerated(0.13) deleterious(0.592) HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box NBR2 10230 genome.wustl.edu 37 17 41290805 41290805 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000356906 +1 known p.R17C 0.022 157 0% 88 33% 10 0% benign(0) tolerated(0.14) neutral(0.249) NULL NBR1 4077 genome.wustl.edu 37 17 41341820 41341820 + Splice_Site SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005899.3 +1 reviewed e7+1 1.000 312 0% 200 11.5% 0 - - - - - NBR1 4077 genome.wustl.edu 37 17 41343476 41343476 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005899.3 +1 reviewed p.K317N 1.000 94 0% 67 29.9% 47 27.6% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL NBR1 4077 genome.wustl.edu 37 17 41348511 41348511 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005899.3 +1 reviewed p.C588 1.000 52 0% 21 33.3% 39 53.8% - - - NULL DHX8 1659 genome.wustl.edu 37 17 41599550 41599550 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004941.1 +1 reviewed p.V1133 1.000 126 0.8% 75 28% 33 39.3% - - - HMMPfam_DUF1605 ETV4 2118 genome.wustl.edu 37 17 41610212 41610212 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001079675.1 -1 validated p.S214L 0.996 80 0% 41 39% 13 15.3% possibly_damaging(0.941) deleterious(0) deleterious(0.831) HMMPfam_ETS_PEA3_N SOST 50964 genome.wustl.edu 37 17 41835938 41835938 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025237.2 -1 reviewed p.R58W 1.000 53 0% 22 27.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Sclerostin MPP3 4356 genome.wustl.edu 37 17 41891443 41891443 + Silent SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001932.3 -1 reviewed p.R397 0.947 212 0% 77 26% 2 0% - - - HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases MPP2 4355 genome.wustl.edu 37 17 41957316 41957316 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005374.3 -1 reviewed p.G396D 1.000 130 0% 62 33.9% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Guanylate_kin,HMMSmart_SM00072,PatternScan_GUANYLATE_KINASE_1,superfamily_P-loop containing nucleoside triphosphate hydrolases MPP2 4355 genome.wustl.edu 37 17 41959836 41959836 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005374.3 -1 reviewed p.R166H 1.000 99 0% 37 24.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like TMUB2 79089 genome.wustl.edu 37 17 42266576 42266576 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001076674.1 +1 validated p.G74 0.008 84 0% 47 29.8% 29 37.9% - - - NULL TMUB2 79089 genome.wustl.edu 37 17 42267919 42267919 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001076674.1 +1 validated p.R218H 1.000 99 0% 71 38% 50 40% benign(0.316) deleterious(0.01) deleterious(0.505) HMMPfam_ubiquitin,HMMSmart_SM00213,superfamily_Ubiquitin-like RUNDC3A 10900 genome.wustl.edu 37 17 42390789 42390789 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001144825.1 +1 validated p.R126W 1.000 113 0.9% 47 27.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RUN,HMMSmart_SM00593 ITGA2B 3674 genome.wustl.edu 37 17 42455115 42455115 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000419.3 -1 reviewed p.T713I 0.992 97 0% 49 22.4% 0 - benign(0.119) deleterious(0) neutral(0.454) HMMPfam_Integrin_alpha2,superfamily_Integrin domains GPATCH8 23131 genome.wustl.edu 37 17 42512487 42512487 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001002909.1 -1 validated p.R98 0.956 217 0% 122 25.4% 13 46.1% - - - NULL FZD2 2535 genome.wustl.edu 37 17 42635698 42635698 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001466.2 +1 reviewed p.K214 1.000 21 0% 27 37% 8 50% - - - NULL FZD2 2535 genome.wustl.edu 37 17 42635871 42635871 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001466.2 +1 reviewed p.R272H 1.000 66 0% 41 46.3% 19 52.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Frizzled FZD2 2535 genome.wustl.edu 37 17 42636530 42636530 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001466.2 +1 reviewed p.R492C 1.000 34 0% 15 26.7% 14 7.1% possibly_damaging(0.836) tolerated(0.18) neutral(0.376) HMMPfam_Frizzled EFTUD2 9343 genome.wustl.edu 37 17 42930970 42930970 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004247.3 -1 validated p.A794E 1.000 158 0% 95 24.2% 66 37.8% probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_EFG_IV,superfamily_Ribosomal_S5_D2-typ_fold CCDC103 388389 genome.wustl.edu 37 17 42978971 42978971 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_213607.1 +1 provisional p.H76R 0.910 169 0% 64 34.4% 11 36.3% probably_damaging(0.983) tolerated(0.35) neutral(0.450) NULL KIF18B 146909 genome.wustl.edu 37 17 43013628 43013628 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080443.1 -1 provisional p.V29L 1.000 18 0% 12 33.3% 4 25% possibly_damaging(0.926) deleterious(0.02) deleterious(0.758) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases DCAKD 79877 genome.wustl.edu 37 17 43111727 43111727 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001128631.1 -1 validated p.R48 1.000 56 0% 22 22.7% 63 33.3% - - - HMMPfam_CoaE,superfamily_P-loop containing nucleoside triphosphate hydrolases ACBD4 79777 genome.wustl.edu 37 17 43214119 43214119 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001135704.1 +1 reviewed p.T90 0.199 32 0% 13 30.8% 4 50% - - - HMMPfam_ACBP,superfamily_ACBP FMNL1 752 genome.wustl.edu 37 17 43316399 43316399 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005892.3 +1 reviewed p.E349 1.000 198 0% 104 28.8% 13 30.7% - - - HMMPfam_Drf_FH3 FMNL1 752 genome.wustl.edu 37 17 43322241 43322241 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005892.3 +1 reviewed p.G858D 1.000 148 0.7% 48 29.2% 18 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) PLEKHM1 9842 genome.wustl.edu 37 17 43530966 43530966 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014798.2 -1 reviewed p.A751D 0.999 119 0% 66 9.1% 7 0% probably_damaging(0.956) deleterious(0.04) deleterious(0.748) HMMSmart_PH,superfamily_SSF50729 PLEKHM1 9842 genome.wustl.edu 37 17 43555378 43555378 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014798.2 -1 reviewed p.L62M 1.000 90 0% 53 17% 9 11.1% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_RUN CRHR1 1394 genome.wustl.edu 37 17 43898751 43898751 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001145146.1 +1 reviewed p.G91V 1.000 49 0% 31 16.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HRM,HMMSmart_SM00008,superfamily_Hormone receptor domain (HRM Pfam 02793) SPPL2C 162540 genome.wustl.edu 37 17 43922346 43922346 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175882.2 +1 validated p.G25D 0.888 72 0% 36 38.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MAPT 4137 genome.wustl.edu 37 17 44073819 44073819 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001123066.3 +1 validated p.G539V 0.998 33 0% 16 25% 0 - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) NULL KANSL1 284058 genome.wustl.edu 37 17 44172021 44172021 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015443.2 -1 validated p.V446I 1.000 655 0% 384 20.6% 18 11.1% benign(0.3) tolerated(0.63) neutral(0.097) NULL CDC27 996 genome.wustl.edu 37 17 45234337 45234337 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001114091.1 -1 reviewed p.P262S 1.000 231 0% 144 12.5% 25 12% benign(0.004) tolerated(0.32) neutral(0.024) superfamily_TPR-like ITGB3 3690 genome.wustl.edu 37 17 45369605 45369605 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000212.2 +1 reviewed p.Q454P 0.769 154 0% 73 20.5% 1 0% benign(0.151) tolerated(0.27) neutral(0.047) HMMPfam_Integrin_beta,HMMSmart_SM00187,superfamily_Integrin domains NPEPPS 9520 genome.wustl.edu 37 17 45673758 45673758 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006310.3 +1 reviewed p.P489L 1.000 31 0% 21 23.8% 56 48.2% probably_damaging(0.989) deleterious(0.01) deleterious(0.845) superfamily_SSF55486 KPNB1 3837 genome.wustl.edu 37 17 45755698 45755698 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000290158 +1 known p.L758M 1.000 298 0% 182 13.7% 213 17.3% possibly_damaging(0.952) deleterious(0.03) deleterious(0.760) superfamily_ARM repeat TBKBP1 9755 genome.wustl.edu 37 17 45776131 45776131 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014726.2 +1 validated p.G208 0.881 54 0% 26 30.8% 6 50% - - - NULL OSBPL7 114881 genome.wustl.edu 37 17 45885948 45885948 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145798.2 -1 reviewed p.K792N 0.071 567 0.4% 282 25.9% 4 25% benign(0.196) deleterious(0.01) neutral(0.424) HMMPfam_Oxysterol_BP OSBPL7 114881 genome.wustl.edu 37 17 45894147 45894147 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145798.2 -1 reviewed p.R265Q 1.000 61 0% 38 28.9% 4 75% possibly_damaging(0.795) tolerated(0.84) neutral(0.299) NULL SP2 6668 genome.wustl.edu 37 17 45994392 45994392 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003110.5 +1 reviewed p.Q319* 1.000 218 0% 105 27.6% 7 28.5% - - - NULL SP2 6668 genome.wustl.edu 37 17 45994489 45994489 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003110.5 +1 reviewed p.P351H 1.000 383 0% 229 10.9% 14 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CDK5RAP3 80279 genome.wustl.edu 37 17 46051354 46051354 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_176096.1 +1 reviewed p.S81F 1.000 138 0% 74 32.4% 50 54% probably_damaging(0.97) deleterious(0.02) deleterious(0.795) HMMPfam_DUF773 LOC100288639 100288639 genome.wustl.edu 37 17 46058902 46058902 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002343526.1 -1 model p.S43 0.046 213 0% 111 28.8% 41 36.5% - - - NULL HOXB1 3211 genome.wustl.edu 37 17 46607946 46607946 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002144.3 -1 reviewed p.D107 0.017 169 0% 100 23% 0 - - - - NULL HOXB1 3211 genome.wustl.edu 37 17 46608128 46608128 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002144.3 -1 reviewed p.R47S 0.999 76 0% 35 31.4% 0 - possibly_damaging(0.934) deleterious(0.01) deleterious(0.786) NULL TTLL6 284076 genome.wustl.edu 37 17 46847316 46847316 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130918.1 -1 validated p.K728 0.000 209 0% 101 35.6% 0 - - - - NULL ATP5G1 516 genome.wustl.edu 37 17 46973087 46973087 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001002027.1 +1 reviewed p.L123F 1.000 255 0% 158 24.7% 175 31.4% benign(0.398) deleterious(0.02) deleterious(0.511) HMMPfam_ATP-synt_C,superfamily_F1F0 ATP synthase subunit C SLC35B1 10237 genome.wustl.edu 37 17 47782485 47782485 + Splice_Site SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005827.1 -1 provisional e5+1 1.000 224 0% 131 25.2% 1 100% - - - - ITGA3 3675 genome.wustl.edu 37 17 48151309 48151309 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005501.2 +1 reviewed p.L396V 0.947 79 1.3% 51 27.5% 6 0% benign(0.311) tolerated(0.31) neutral(0.124) HMMPfam_FG-GAP,HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain ITGA3 3675 genome.wustl.edu 37 17 48166496 48166496 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005501.2 +1 reviewed p.R1023H 0.029 284 0% 181 32% 8 50% probably_damaging(0.994) deleterious(0.02) deleterious(0.835) NULL PDK2 5164 genome.wustl.edu 37 17 48184232 48184232 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002611.3 +1 provisional p.S198P 0.994 197 0% 97 24.7% 8 0% possibly_damaging(0.558) tolerated(0.28) neutral(0.222) superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase SAMD14 201191 genome.wustl.edu 37 17 48191746 48191746 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_174920.2 -1 provisional p.D294G 0.000 81 0% 35 28.6% 0 - benign(0.001) tolerated(0.06) neutral(0.323) NULL SGCA 6442 genome.wustl.edu 37 17 48247657 48247657 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000023.2 +1 reviewed p.A301T 1.000 71 0% 32 31.2% 1 0% probably_damaging(0.978) deleterious(0) deleterious(0.865) HMMPfam_Sarcoglycan_2 COL1A1 1277 genome.wustl.edu 37 17 48266595 48266595 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000088.3 -1 reviewed p.Q957 1.000 40 0% 16 25% 370 1.3% - - - HMMPfam_Collagen LOC100288444 100288444 genome.wustl.edu 37 17 48431506 48431506 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002343567.1 -1 model p.A11T 0.004 22 0% 13 30.8% 0 - - - - NULL CHAD 1101 genome.wustl.edu 37 17 48545654 48545654 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001267.2 -1 reviewed p.R174H 1.000 85 0% 38 15.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like ACSF2 80221 genome.wustl.edu 37 17 48551590 48551590 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025149.4 +1 validated p.V587M 1.000 383 0% 168 28.6% 5 20% probably_damaging(0.998) tolerated(0.07) deleterious(0.793) superfamily_SSF56801 RSAD1 55316 genome.wustl.edu 37 17 48557329 48557329 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018346.1 +1 provisional p.A120S 0.000 35 0% 19 31.6% 7 42.8% benign(0.001) tolerated(0.17) neutral(0.059) HMMSmart_Elp3,HMMPfam_Radical_SAM,superfamily_SSF102114 RSAD1 55316 genome.wustl.edu 37 17 48557425 48557425 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018346.1 +1 provisional p.R152G 1.000 51 0% 36 16.7% 30 10% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_Elp3,HMMPfam_Radical_SAM,superfamily_SSF102114 CACNA1G 8913 genome.wustl.edu 37 17 48695471 48695471 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018896.3 +1 validated p.E1763D 1.000 51 0% 23 26.1% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels ABCC3 8714 genome.wustl.edu 37 17 48752731 48752731 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003786.3 +1 reviewed p.G870C 0.000 179 0% 85 23.5% 3 0% benign(0.414) deleterious(0.04) deleterious(0.483) superfamily_P-loop containing nucleoside triphosphate hydrolases ABCC3 8714 genome.wustl.edu 37 17 48765056 48765056 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003786.3 +1 reviewed p.I1480 1.000 114 0% 61 32.8% 6 0% - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases TOB1 10140 genome.wustl.edu 37 17 48940968 48940968 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005749.2 -1 reviewed p.Q137H 1.000 128 0% 90 31.1% 206 44.6% probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL TOB1 10140 genome.wustl.edu 37 17 48940973 48940973 + Missense_Mutation SNP C C T rs187704502 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005749.2 -1 reviewed p.A136T 1.000 125 0% 90 24.4% 198 40.4% probably_damaging(1) tolerated(0.09) deleterious(0.796) NULL SPAG9 9043 genome.wustl.edu 37 17 49059961 49059961 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130528.2 -1 reviewed p.T1054N 1.000 849 0% 587 25.2% 36 55.5% possibly_damaging(0.666) deleterious(0.05) deleterious(0.581) superfamily_WD40 repeat-like KIF2B 84643 genome.wustl.edu 37 17 51900439 51900439 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032559.4 +1 validated p.P15 0.002 139 0% 61 19.7% 0 - - - - NULL STXBP4 252983 genome.wustl.edu 37 17 53155490 53155490 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178509.5 +1 validated p.R414* 1.000 300 0% 276 28.3% 1 0% - - - NULL ANKFN1 162282 genome.wustl.edu 37 17 54534320 54534320 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153228.2 +1 validated p.R439W 1.000 213 0% 137 29.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NOG 9241 genome.wustl.edu 37 17 54671743 54671743 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005450.4 +1 reviewed p.I53 1.000 38 0% 19 21.1% 7 57.1% - - - HMMPfam_Noggin,superfamily_SSF57501 TRIM25 7706 genome.wustl.edu 37 17 54985913 54985913 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005082.4 -1 reviewed p.R203 0.474 180 1.1% 110 23.6% 29 27.5% - - - NULL MRPS23 51649 genome.wustl.edu 37 17 55926649 55926649 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016070.2 -1 reviewed p.A56D 0.999 68 0% 42 33.3% 108 37% benign(0.137) tolerated(0.57) neutral(0.018) HMMPfam_MRP-S23 CUEDC1 404093 genome.wustl.edu 37 17 55962727 55962727 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017949.1 -1 provisional p.E67K 1.000 31 0% 22 27.3% 120 41.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CUE,HMMSmart_SM00546,superfamily_UBA-like OR4D2 124538 genome.wustl.edu 37 17 56247526 56247526 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004707.3 +1 provisional p.G170 1.000 494 0.2% 282 25.5% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR4D2 124538 genome.wustl.edu 37 17 56247846 56247846 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004707.3 +1 provisional p.V277D 0.706 577 0% 315 25.1% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_7tm_1,superfamily_SSF81321 OR4D2 124538 genome.wustl.edu 37 17 56247851 56247851 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004707.3 +1 provisional p.T279A 1.000 566 0% 305 26.6% 0 - possibly_damaging(0.579) deleterious(0.04) deleterious(0.548) HMMPfam_7tm_1,superfamily_SSF81321 EPX 8288 genome.wustl.edu 37 17 56276965 56276965 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000502.4 +1 reviewed p.G449 0.000 90 0% 43 18.6% 0 - - - - HMMPfam_An_peroxidase,superfamily_Peroxidase_super RNF43 54894 genome.wustl.edu 37 17 56437556 56437556 + Frame_Shift_Del DEL C C - novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017763.4 -1 validated p.W302fs 1.000 - - - - - - - - - HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box RNF43 54894 genome.wustl.edu 37 17 56440758 56440758 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017763.4 -1 validated p.P154S 1.000 279 0.7% 144 28.5% 13 69.2% possibly_damaging(0.951) deleterious(0.03) deleterious(0.758) NULL MTMR4 9110 genome.wustl.edu 37 17 56572904 56572904 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004687.4 -1 validated p.G867* 1.000 190 0% 101 12.9% 13 0% - - - NULL TEX14 56155 genome.wustl.edu 37 17 56679906 56679906 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198393.2 -1 reviewed p.A461V 0.132 129 0% 68 29.4% 0 - benign(0.029) tolerated(0.18) neutral(0.058) HMMPfam_Pkinase_Tyr,superfamily_Kinase_like PPM1E 22843 genome.wustl.edu 37 17 57057337 57057337 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014906.3 +1 reviewed p.D405N 1.000 138 0.7% 69 23.2% 1 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C TRIM37 4591 genome.wustl.edu 37 17 57094714 57094714 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005207.2 -1 reviewed p.A777S 1.000 324 0.3% 218 11.5% 36 16.6% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL DHX40 79665 genome.wustl.edu 37 17 57647950 57647950 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024612.4 +1 reviewed p.V118L 1.000 259 0% 171 29.2% 23 34.7% probably_damaging(0.971) deleterious(0) deleterious(0.857) HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases DHX40 79665 genome.wustl.edu 37 17 57665337 57665337 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024612.4 +1 reviewed p.A502V 1.000 461 0% 233 32.2% 43 44.1% possibly_damaging(0.948) deleterious(0) deleterious(0.836) HMMPfam_HA2,superfamily_P-loop containing nucleoside triphosphate hydrolases RPS6KB1 6198 genome.wustl.edu 37 17 58013875 58013875 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003161.2 +1 reviewed p.K364 1.000 1110 0% 698 29.1% 16 43.7% - - - HMMSmart_SM00133,superfamily_Protein kinase-like (PK-like) ENSG00000238283 0 genome.wustl.edu 37 17 58087989 58087989 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000407042 -1 known p.L285M 1.000 244 0% 128 14.1% 0 - - - - HMMPfam_TBC HEATR6 63897 genome.wustl.edu 37 17 58134497 58134497 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022070.4 -1 validated p.P664L 1.000 283 0% 178 21.3% 14 35.7% possibly_damaging(0.951) deleterious(0.01) deleterious(0.800) superfamily_ARM-type_fold HEATR6 63897 genome.wustl.edu 37 17 58143636 58143636 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022070.4 -1 validated p.T450 0.796 120 0% 82 20.7% 7 14.2% - - - superfamily_ARM-type_fold HEATR6 63897 genome.wustl.edu 37 17 58150556 58150556 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022070.4 -1 validated p.A185T 1.000 122 0% 70 30% 5 40% unknown(0) deleterious(0) - superfamily_ARM-type_fold USP32 84669 genome.wustl.edu 37 17 58258710 58258710 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032582.3 -1 validated p.P1508L 1.000 261 0% 165 27.3% 18 44.4% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_UCH,superfamily_SSF54001 APPBP2 10513 genome.wustl.edu 37 17 58571896 58571896 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006380.2 -1 reviewed p.R104W 1.000 309 0.3% 209 27.3% 21 42.8% probably_damaging(0.987) deleterious(0.04) deleterious(0.785) NULL PPM1D 8493 genome.wustl.edu 37 17 58740709 58740709 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003620.2 +1 reviewed p.L538 0.993 251 0% 171 37.4% 17 41.1% - - - NULL BCAS3 54828 genome.wustl.edu 37 17 59093163 59093163 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001099432.1 +1 validated p.G513D 1.000 965 0.1% 627 30.8% 12 16.6% probably_damaging(0.977) tolerated(0.09) deleterious(0.716) NULL BRIP1 83990 genome.wustl.edu 37 17 59885994 59885994 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032043.1 -1 reviewed p.R251H 1.000 222 0% 179 28.5% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00488,HMMPfam_DEAD_2,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases INTS2 57508 genome.wustl.edu 37 17 59968900 59968900 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020748.2 -1 validated p.L625F 1.000 442 0% 275 10.5% 3 0% probably_damaging(0.986) tolerated(0.1) deleterious(0.721) NULL INTS2 57508 genome.wustl.edu 37 17 60002360 60002360 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020748.2 -1 validated p.R140C 1.000 113 0% 57 12.3% 5 60% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MED13 9969 genome.wustl.edu 37 17 60042540 60042540 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005121.2 -1 reviewed p.S1557 0.966 231 0.9% 141 35.5% 18 11.1% - - - HMMPfam_TRAP_240kDa MED13 9969 genome.wustl.edu 37 17 60061638 60061638 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005121.2 -1 reviewed p.L928M 0.999 276 0% 155 25.8% 13 61.5% probably_damaging(1) tolerated(0.09) deleterious(0.796) NULL MED13 9969 genome.wustl.edu 37 17 60088188 60088188 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005121.2 -1 reviewed p.P564T 1.000 258 0% 160 29.4% 9 33.3% possibly_damaging(0.903) tolerated(0.34) neutral(0.381) NULL METTL2A 339175 genome.wustl.edu 37 17 60526000 60526000 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181725.3 +1 validated p.R349 0.933 308 0% 161 26.1% 48 45.8% - - - superfamily_S-adenosyl-L-methionine-dependent methyltransferases MARCH10 162333 genome.wustl.edu 37 17 60813930 60813930 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001100875.1 -1 validated p.T433 0.004 540 0% 337 28.2% 0 - - - - NULL LOC342541 342541 genome.wustl.edu 37 17 61549108 61549108 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_292596.4 +1 model p.S53 0.988 311 0% 201 10.9% 0 - - - - HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1,superfamily_Cyclophilin-like ACE 1636 genome.wustl.edu 37 17 61571015 61571015 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000789.2 +1 reviewed p.S1044I 0.370 58 0% 31 32.3% 17 17.6% possibly_damaging(0.449) deleterious(0) deleterious(0.592) "HMMPfam_Peptidase_M2,superfamily_Metalloproteases (""zincins"") catalytic domain" KCNH6 81033 genome.wustl.edu 37 17 61620994 61620994 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030779.2 +1 reviewed p.G736C 0.646 35 0% 15 33.3% 0 - benign(0.229) deleterious(0.01) neutral(0.429) NULL CCDC47 57003 genome.wustl.edu 37 17 61829344 61829344 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020198.2 -1 validated p.R443* 1.000 230 0% 128 32% 129 34.1% - - - HMMPfam_DUF1682 SMARCD2 6603 genome.wustl.edu 37 17 61911902 61911902 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098426.1 -1 reviewed p.G285S 1.000 236 0% 131 27.5% 170 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CEP95 90799 genome.wustl.edu 37 17 62510396 62510396 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138363.1 +1 provisional p.S96Y 1.000 4 0.000 13 0.308 3 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL CEP95 90799 genome.wustl.edu 37 17 62528094 62528094 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000397727 +1 known p.R478H 0.048 195 0% 149 28.2% 12 66.6% benign(0.005) tolerated(0.17) neutral(0.059) NULL SMURF2 64750 genome.wustl.edu 37 17 62552003 62552003 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022739.3 -1 validated p.K515 1.000 219 0% 116 15.5% 25 40% - - - HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT LRRC37A3 374819 genome.wustl.edu 37 17 62856384 62856384 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_199340.2 -1 provisional p.T1294A 0.000 462 0% 269 32% 0 - benign(0) tolerated(1) - NULL LRRC37A3 374819 genome.wustl.edu 37 17 62893154 62893154 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_199340.2 -1 provisional p.A74 0.000 717 0% 407 8.1% 2 0% - - - NULL ENSG00000232457 0 genome.wustl.edu 37 17 62950546 62950546 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000413214 +1 known p.S102Y 0.998 144 0% 85 35.3% 0 - probably_damaging(0.979) deleterious(0) deleterious(0.867) HMMPfam_MFS_1,superfamily_MFS general substrate transporter GNA13 10672 genome.wustl.edu 37 17 63010563 63010563 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006572.4 -1 validated p.P316T 1.000 264 0% 151 26.5% 15 33.3% benign(0.167) tolerated(0.06) neutral(0.338) HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases CEP112 201134 genome.wustl.edu 37 17 64066072 64066072 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145036.3 -1 validated p.K272 1.000 203 0% 146 28.8% 0 - - - - NULL PRKCA 5578 genome.wustl.edu 37 17 64683246 64683246 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002737.2 +1 reviewed p.L183I 0.997 373 0% 209 28.2% 2 50% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) PRKCA 5578 genome.wustl.edu 37 17 64770134 64770134 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002737.2 +1 reviewed p.S518 0.131 217 0% 102 32.4% 4 0% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CACNG1 786 genome.wustl.edu 37 17 65052332 65052332 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000727.2 +1 reviewed p.P205H 1.000 107 0% 52 23.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL HELZ 9931 genome.wustl.edu 37 17 65214760 65214760 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014877.3 -1 validated p.R54H 1.000 352 0% 235 10.6% 2 0% possibly_damaging(0.782) tolerated(0.13) deleterious(0.545) NULL PSMD12 5718 genome.wustl.edu 37 17 65344689 65344689 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002816.3 -1 reviewed p.A163T 1.000 153 0% 81 9.9% 76 19.7% possibly_damaging(0.476) tolerated(0.24) neutral(0.195) NULL NOL11 25926 genome.wustl.edu 37 17 65735703 65735703 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015462.3 +1 provisional p.I638M 0.014 150 0.7% 92 9.8% 59 18.6% benign(0.252) tolerated(0.07) neutral(0.345) NULL BPTF 2186 genome.wustl.edu 37 17 65908388 65908388 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182641.3 +1 reviewed p.R1463M 1.000 346 0% 217 24.4% 7 14.2% possibly_damaging(0.496) deleterious(0) deleterious(0.610) NULL C17orf58 284018 genome.wustl.edu 37 17 65988152 65988152 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181655.2 -1 validated p.Q57H 0.851 86 0% 40 10% 20 40% benign(0.001) tolerated(0.62) neutral(0.004) superfamily_TIMP-like ARSG 22901 genome.wustl.edu 37 17 66352835 66352835 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014960.3 +1 validated p.D198 0.017 143 0% 69 10.1% 1 0% - - - HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core WIPI1 55062 genome.wustl.edu 37 17 66446992 66446992 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017983.5 -1 validated p.S70 1.000 79 1.3% 48 18.8% 31 41.9% - - - superfamily_WD40 repeat-like ABCA8 10351 genome.wustl.edu 37 17 66871435 66871435 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007168.2 -1 reviewed p.L1493M 0.997 222 0% 101 35.6% 1 0% possibly_damaging(0.571) tolerated(0.21) neutral(0.239) NULL ABCA9 10350 genome.wustl.edu 37 17 66982323 66982323 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080283.3 -1 reviewed p.A1397V 0.006 595 0.2% 357 30.3% 1 0% probably_damaging(0.998) tolerated(0.84) deleterious(0.475) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCA6 23460 genome.wustl.edu 37 17 67111040 67111040 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080284.2 -1 reviewed p.Q549* 0.993 363 0.3% 366 25.1% 1 100% - - - HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCA5 23461 genome.wustl.edu 37 17 67246735 67246735 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018672.3 -1 reviewed p.K1521N 1.000 93 0% 92 13% 14 14.2% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases C17orf80 55028 genome.wustl.edu 37 17 71232658 71232658 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017941.4 +1 validated p.S346Y 0.000 161 0% 109 11% 8 0% probably_damaging(0.983) deleterious(0.05) deleterious(0.774) NULL SDK2 54549 genome.wustl.edu 37 17 71375651 71375651 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001144952.1 -1 provisional p.S1600 0.344 35 0% 15 40% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III SDK2 54549 genome.wustl.edu 37 17 71394314 71394314 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001144952.1 -1 provisional p.R1072C 1.000 39 0% 19 26.3% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III CD300C 10871 genome.wustl.edu 37 17 72540842 72540842 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006678.3 -1 provisional p.E102D 0.000 236 0% 125 25.6% 1 0% benign(0) tolerated(0.41) neutral(0.015) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 C17orf77 146723 genome.wustl.edu 37 17 72588476 72588476 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152460.2 +1 validated p.I97 0.000 322 0% 158 27.2% 0 - - - - NULL OTOP2 92736 genome.wustl.edu 37 17 72926422 72926422 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178160.2 +1 validated p.A231V 0.002 226 0% 131 32.8% 0 - benign(0.077) deleterious(0.04) neutral(0.354) NULL OTOP2 92736 genome.wustl.edu 37 17 72927198 72927198 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178160.2 +1 validated p.R490C 0.994 116 0% 74 33.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL C17orf28 283987 genome.wustl.edu 37 17 72951921 72951921 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030630.2 -1 validated p.E534D 1.000 48 0% 13 30.8% 113 43.3% probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_Hid1 CDR2L 30850 genome.wustl.edu 37 17 73000136 73000136 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014603.2 +1 validated p.N455 0.906 36 0% 16 31.2% 24 25% - - - NULL SLC16A5 9121 genome.wustl.edu 37 17 73096480 73096480 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004695.2 +1 provisional p.Y241C 0.949 101 0% 68 32.4% 20 45% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter HN1 51155 genome.wustl.edu 37 17 73144701 73144701 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001002032.1 -1 validated p.P41H 0.884 158 0% 118 23.7% 297 45.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL NUP85 79902 genome.wustl.edu 37 17 73227514 73227514 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024844.3 +1 reviewed p.L392I 1.000 312 0% 149 23.5% 60 55% possibly_damaging(0.744) tolerated(0.64) neutral(0.276) HMMPfam_Nucleopor_Nup85 NUP85 79902 genome.wustl.edu 37 17 73228981 73228981 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024844.3 +1 reviewed p.V478I 0.983 371 0% 210 28.6% 55 49% benign(0.013) tolerated(0.25) neutral(0.037) HMMPfam_Nucleopor_Nup85 KIAA0195 9772 genome.wustl.edu 37 17 73489846 73489846 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014738.4 +1 validated p.K752 1.000 81 0% 39 38.5% 11 9% - - - NULL KIAA0195 9772 genome.wustl.edu 37 17 73494595 73494595 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014738.4 +1 validated p.A1237T 1.000 25 0% 15 33.3% 32 0% probably_damaging(0.999) tolerated(0.32) deleterious(0.514) superfamily_Calcium ATPase transmembrane domain M LLGL2 3993 genome.wustl.edu 37 17 73552193 73552193 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001031803.1 +1 reviewed p.A48T 1.000 39 0% 19 21.1% 63 31.7% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) HMMSmart_SM00320,superfamily_WD40 repeat-like LLGL2 3993 genome.wustl.edu 37 17 73564653 73564653 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001031803.1 +1 reviewed p.Y378C 1.000 16 0% 11 45.5% 119 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40 repeat-like UNK 85451 genome.wustl.edu 37 17 73814765 73814765 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080419.1 +1 provisional p.S548G 1.000 38 0% 17 29.4% 19 26.3% probably_damaging(0.965) deleterious(0.01) deleterious(0.812) NULL ACOX1 51 genome.wustl.edu 37 17 73951752 73951752 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004035.6 -1 reviewed p.V223 0.545 123 0% 72 15.3% 56 16% - - - superfamily_AcylCoA_dehyd_NM EVPL 2125 genome.wustl.edu 37 17 74004922 74004922 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001988.2 -1 validated p.T1455M 0.160 260 0.4% 115 31.3% 9 22.2% benign(0.286) deleterious(0.05) neutral(0.433) NULL EVPL 2125 genome.wustl.edu 37 17 74005049 74005049 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001988.2 -1 validated p.R1413W 0.305 100 0% 57 35.1% 9 55.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL EVPL 2125 genome.wustl.edu 37 17 74006254 74006254 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001988.2 -1 validated p.Q1011R 0.158 87 0% 49 20.4% 9 0% benign(0.001) tolerated(0.57) neutral(0.006) NULL SRP68 6730 genome.wustl.edu 37 17 74035844 74035844 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014230.2 -1 reviewed p.Q609H 1.000 74 0% 44 29.5% 188 42.5% probably_damaging(0.992) tolerated(0.08) deleterious(0.748) NULL QRICH2 84074 genome.wustl.edu 37 17 74287479 74287479 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032134.1 -1 provisional p.Y944C 0.002 109 0% 60 33.3% 2 50% benign(0) deleterious(0) neutral(0.445) NULL PRPSAP1 5635 genome.wustl.edu 37 17 74324819 74324819 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002766.2 -1 validated p.H254Y 1.000 165 0% 108 29.6% 54 57.4% benign(0) tolerated(0.21) neutral(0.044) superfamily_PRTase-like UBE2O 63893 genome.wustl.edu 37 17 74387294 74387294 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022066.3 -1 validated p.G1203 0.661 64 0% 34 14.7% 24 33.3% - - - NULL UBE2O 63893 genome.wustl.edu 37 17 74396258 74396258 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022066.3 -1 validated p.C375 1.000 94 0% 37 21.6% 6 16.6% - - - NULL MFSD11 79157 genome.wustl.edu 37 17 74772591 74772591 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024311.2 +1 provisional p.A385T 1.000 407 0% 227 27.8% 30 40% benign(0.227) tolerated(0.08) neutral(0.323) superfamily_MFS general substrate transporter MGAT5B 146664 genome.wustl.edu 37 17 74934121 74934121 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198955.1 +1 validated p.T503A 1.000 136 0% 73 24.7% 3 66.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SEC14L1 6397 genome.wustl.edu 37 17 75190888 75190888 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001039573.2 +1 reviewed p.A202S 0.001 241 0% 149 30.9% 66 37.8% benign(0) tolerated(0.9) - NULL SEPT9 10801 genome.wustl.edu 37 17 75471731 75471731 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001113495.1 +1 reviewed p.T44M 0.000 33 0% 15 33.3% 0 - unknown(0) - - NULL TNRC6C 57690 genome.wustl.edu 37 17 76045538 76045538 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142640.1 +1 validated p.A132D 1.000 179 0.6% 112 39.3% 3 0% probably_damaging(0.982) deleterious(0.01) deleterious(0.832) NULL TNRC6C 57690 genome.wustl.edu 37 17 76079172 76079172 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142640.1 +1 validated p.L1131 1.000 173 0% 103 28.2% 6 50% - - - NULL SYNGR2 9144 genome.wustl.edu 37 17 76167590 76167590 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004710.3 +1 reviewed e3-1 1.000 30 0% 19 47.4% 1 100% - - - - DNAH17 8632 genome.wustl.edu 37 17 76420011 76420011 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000389840 -1 known p.A4478 0.111 114 0% 57 26.3% 7 57.1% - - - HMMPfam_Dynein_heavy DNAH17 8632 genome.wustl.edu 37 17 76501473 76501473 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000389840 -1 known p.L1616F 0.001 56 0% 29 41.4% 0 - benign(0.3) deleterious(0.05) neutral(0.439) HMMPfam_DHC_N2 DNAH17 8632 genome.wustl.edu 37 17 76522786 76522786 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000389840 -1 known p.R1220C 0.000 56 0% 33 39.4% 0 - benign(0.081) deleterious(0.01) neutral(0.412) NULL DNAH17 8632 genome.wustl.edu 37 17 76526517 76526517 + Silent SNP G G A rs186420030 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000389840 -1 known p.C1064 0.374 73 0% 57 10.5% 0 - - - - superfamily_Spectrin repeat CYTH1 9267 genome.wustl.edu 37 17 76694946 76694946 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004762.2 -1 reviewed p.R219* 0.998 357 0% 202 37.6% 11 18.1% - - - HMMPfam_Sec7,HMMSmart_SM00222,superfamily_Sec7 domain USP36 57602 genome.wustl.edu 37 17 76803224 76803224 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025090.3 -1 validated p.A634 0.000 54 0% 26 23.1% 13 38.4% - - - NULL LGALS3BP 3959 genome.wustl.edu 37 17 76968042 76968042 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005567.3 -1 reviewed p.Y458 0.022 45 0% 26 26.9% 303 30.3% - - - NULL CBX4 8535 genome.wustl.edu 37 17 77808708 77808708 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003655.2 -1 validated p.G245R 0.994 109 0% 50 18% 27 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CARD14 79092 genome.wustl.edu 37 17 78165265 78165265 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024110.2 +1 reviewed p.P411 0.000 49 0% 12 50% 1 0% - - - NULL SLC26A11 284129 genome.wustl.edu 37 17 78196512 78196512 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173626.3 +1 reviewed p.R98Q 1.000 116 0% 52 23.1% 12 66.6% possibly_damaging(0.741) deleterious(0.01) deleterious(0.677) PatternScan_SLC26A RNF213 57674 genome.wustl.edu 37 17 78262463 78262463 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020954.2 +1 validated p.A281V 0.000 181 0% 83 37.3% 12 0% unknown(0) tolerated(0.15) - NULL RNF213 57674 genome.wustl.edu 37 17 78269614 78269614 + Splice_Site SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020954.2 +1 validated e9+1 0.984 379 0% 180 25% 4 100% - - - - RNF213 57674 genome.wustl.edu 37 17 78317117 78317117 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000508628 +1 known p.T2059A 1.000 20 0.000 9 0.444 1 0% benign(0.334) tolerated(0.11) neutral(0.377) NULL RNF213 57674 genome.wustl.edu 37 17 78320322 78320322 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000508628 +1 known p.Q2729H 1.000 93 0% 42 31% 2 50% probably_damaging(0.993) deleterious(0) deleterious(0.895) superfamily_P-loop containing nucleoside triphosphate hydrolases RNF213 57674 genome.wustl.edu 37 17 78321294 78321294 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000508628 +1 known p.Q3053H 1.000 81 0% 33 33.3% 2 0% benign(0.03) tolerated(0.18) neutral(0.058) NULL ENSG00000234591 0 genome.wustl.edu 37 17 78327612 78327612 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000434136 -1 known p.R45S 0.000 26 0% 16 25% 0 - - - - NULL RPTOR 57521 genome.wustl.edu 37 17 78796892 78796892 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020761.2 +1 reviewed p.K335N 1.000 274 0% 147 11.6% 12 41.6% possibly_damaging(0.893) deleterious(0) deleterious(0.796) NULL LINC00482 284185 genome.wustl.edu 37 17 79278435 79278435 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178519.2 -1 predicted p.A244T 0.002 9 0.000 6 0.667 0 - unknown(0) - - NULL C17orf90 339229 genome.wustl.edu 37 17 79632453 79632453 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001039842.1 -1 predicted p.R74 0.000 24 0% 17 41.2% 73 43.8% - - - NULL HGS 9146 genome.wustl.edu 37 17 79662041 79662041 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004712.3 +1 provisional p.T355A 0.241 45 0% 24 37.5% 85 45.8% benign(0) tolerated(0.15) neutral(0.241) NULL NOTUM 147111 genome.wustl.edu 37 17 79910901 79910901 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178493.5 -1 validated p.T476M 0.995 158 0% 87 31% 4 25% possibly_damaging(0.946) tolerated(0.08) deleterious(0.690) NULL CCDC57 284001 genome.wustl.edu 37 17 80141712 80141712 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198082.2 -1 validated p.T383 0.000 27 0% 22 18.2% 3 66.6% - - - NULL C17orf101 79701 genome.wustl.edu 37 17 80373362 80373362 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175902.4 -1 validated p.E72D 0.994 48 0% 31 25.8% 4 75% benign(0.414) tolerated(0.37) neutral(0.153) NULL HEXDC 284004 genome.wustl.edu 37 17 80393598 80393598 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173620.2 +1 validated p.R161W 0.045 27 0% 18 33.3% 25 40% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Glyco_hydro_20,superfamily_Glyco_hydro_cat ZNF750 79755 genome.wustl.edu 37 17 80789803 80789803 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024702.2 -1 reviewed p.A176 0.000 78 0% 37 24.3% 2 0% - - - NULL TBCD 6904 genome.wustl.edu 37 17 80884358 80884358 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005993.4 +1 reviewed p.A821D 0.998 68 0% 31 19.4% 53 11.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat COLEC12 81035 genome.wustl.edu 37 18 347314 347314 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_130386.2 -1 validated p.S103N 0.999 234 0% 116 11.2% 2 0% unknown(0) - - NULL ENOSF1 55556 genome.wustl.edu 37 18 694278 694278 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_202758.2 -1 validated p.V143 1.000 29 0% 14 50% 26 11.5% - - - HMMPfam_MR_MLE_N,superfamily_SSF54826 NDC80 10403 genome.wustl.edu 37 18 2575030 2575030 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006101.2 +1 validated p.P48 0.000 79 0% 54 29.6% 11 36.3% - - - HMMPfam_Ndc80_HEC SMCHD1 23347 genome.wustl.edu 37 18 2705754 2705754 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015295.2 +1 validated p.G635 0.990 283 0% 184 22.3% 5 40% - - - NULL SMCHD1 23347 genome.wustl.edu 37 18 2762168 2762168 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015295.2 +1 validated p.P1500 0.999 317 0% 210 28.6% 16 43.7% - - - NULL SMCHD1 23347 genome.wustl.edu 37 18 2778191 2778191 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015295.2 +1 validated p.T1834I 1.000 41 0% 32 18.8% 18 72.2% probably_damaging(0.98) deleterious(0) deleterious(0.869) HMMPfam_SMC_hinge,superfamily_Smc hinge domain EMILIN2 84034 genome.wustl.edu 37 18 2892416 2892416 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032048.2 +1 validated p.Q764R 0.981 152 0% 84 28.6% 2 50% benign(0.044) tolerated(0.43) neutral(0.016) NULL LPIN2 9663 genome.wustl.edu 37 18 2960646 2960646 + Splice_Site SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014646.2 -1 reviewed e1+1 1.000 531 0% 323 11.8% 2 100% - - - - MYOM1 8736 genome.wustl.edu 37 18 3134703 3134703 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003803.3 -1 reviewed p.V777I 0.000 112 0% 52 28.8% 0 - benign(0.002) tolerated(0.35) neutral(0.021) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TGIF1 7050 genome.wustl.edu 37 18 3457581 3457581 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_170695.2 +1 reviewed p.R283 0.989 130 0.8% 85 27.1% 170 40% - - - NULL DLGAP1 9229 genome.wustl.edu 37 18 3879813 3879813 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004746.2 -1 provisional p.A86T 1.000 26 0% 18 22.2% 3 66.6% probably_damaging(1) tolerated(0.21) deleterious(0.544) NULL DLGAP1 9229 genome.wustl.edu 37 18 3879983 3879983 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004746.2 -1 provisional p.R29H 1.000 30 0% 18 22.2% 7 85.7% benign(0.167) tolerated(0.18) neutral(0.071) NULL ZFP161 7541 genome.wustl.edu 37 18 5292118 5292118 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001143823.1 -1 validated p.R30H 1.000 154 0% 81 28.4% 7 57.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_BTB/POZ_fold,HMMPfam_BTB EPB41L3 23136 genome.wustl.edu 37 18 5423513 5423513 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012307.2 -1 provisional p.T401 0.997 207 0% 110 29.1% 7 71.4% - - - HMMPfam_FA,superfamily_PH domain-like L3MBTL4 91133 genome.wustl.edu 37 18 5969409 5969409 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173464.3 -1 validated p.R542C 0.001 80 0% 44 38.6% 4 50% benign(0.152) deleterious(0.01) neutral(0.419) HMMPfam_SAM_1,HMMSmart_SAM,superfamily_SAM_homology LAMA1 284217 genome.wustl.edu 37 18 6958629 6958629 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005559.2 -1 validated p.P2604H 0.997 220 0% 112 21.4% 0 - probably_damaging(0.986) deleterious(0) deleterious(0.879) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_1 PTPRM 5797 genome.wustl.edu 37 18 8069820 8069820 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001105244.1 +1 reviewed p.V423 0.330 270 0% 142 28.9% 3 0% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PTPRM 5797 genome.wustl.edu 37 18 8244116 8244116 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001105244.1 +1 reviewed p.M787I 1.000 427 0% 243 28% 2 0% benign(0.221) deleterious(0.05) neutral(0.367) NULL SOGA2 23255 genome.wustl.edu 37 18 8796245 8796245 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015210.3 +1 predicted p.L676I 0.994 199 0% 126 37.3% 0 - benign(0.429) tolerated(0.32) neutral(0.164) NULL SOGA2 23255 genome.wustl.edu 37 18 8825297 8825297 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015210.3 +1 predicted p.T1263 0.984 55 0% 18 27.8% 0 - - - - NULL NDUFV2 4729 genome.wustl.edu 37 18 9122648 9122648 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021074.4 +1 reviewed p.D146 1.000 344 0% 202 26.2% 319 42% - - - HMMPfam_Complex1_24kDa,superfamily_Thiordxn-like_fd TWSG1 57045 genome.wustl.edu 37 18 9337247 9337247 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020648.5 +1 validated p.A7D 0.000 366 0% 205 26.3% 25 36% benign(0.002) tolerated(0.17) neutral(0.059) NULL RALBP1 10928 genome.wustl.edu 37 18 9517301 9517301 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006788.3 +1 validated p.G235* 1.000 139 0% 91 17.6% 48 14.5% - - - HMMPfam_RhoGAP,HMMSmart_RhoGAP,superfamily_Rho_GAP RALBP1 10928 genome.wustl.edu 37 18 9524601 9524601 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006788.3 +1 validated p.R355* 1.000 77 0% 41 36.6% 35 2.8% - - - HMMPfam_RhoGAP,HMMSmart_RhoGAP,superfamily_Rho_GAP PPP4R1 9989 genome.wustl.edu 37 18 9562041 9562041 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001042388.1 -1 validated p.S593 0.144 228 0.4% 144 27.8% 52 36.5% - - - superfamily_ARM repeat PPP4R1 9989 genome.wustl.edu 37 18 9583120 9583120 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001042388.1 -1 validated p.R305C 1.000 261 0% 170 34.7% 17 29.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HEAT,superfamily_ARM repeat RAB31 11031 genome.wustl.edu 37 18 9859264 9859264 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006868.3 +1 validated p.N177S 0.999 105 0% 47 17% 11 0% benign(0) tolerated(0.74) neutral(0.002) HMMSmart_SM00176,superfamily_P-loop containing nucleoside triphosphate hydrolases NAPG 8774 genome.wustl.edu 37 18 10534480 10534480 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003826.2 +1 reviewed p.G82E 1.000 144 0% 109 27.5% 12 66.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_NSF,superfamily_TPR-like PIEZO2 63895 genome.wustl.edu 37 18 10681658 10681658 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000503781 -1 known p.T374 0.844 383 0.3% 203 24.1% 0 - - - - NULL SLC35G4 646000 genome.wustl.edu 37 18 11609956 11609956 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_928960.2 +1 model p.A121V 0.538 266 0% 120 35% 0 - probably_damaging(0.979) deleterious(0.02) deleterious(0.805) HMMPfam_DUF6 SLC35G4 646000 genome.wustl.edu 37 18 11610225 11610225 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_928960.2 +1 model p.R211C 0.890 286 0% 131 10.7% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SLC35G4 646000 genome.wustl.edu 37 18 11610402 11610402 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_928960.2 +1 model p.V270M 0.941 172 0% 84 31% 0 - probably_damaging(0.959) deleterious(0) deleterious(0.847) superfamily_SSF103481 IMPA2 3613 genome.wustl.edu 37 18 12028090 12028090 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014214.1 +1 validated p.P180H 0.999 151 0% 91 24.2% 12 25% benign(0.016) deleterious(0.04) neutral(0.349) HMMPfam_Inositol_P,superfamily_Carbohydrate phosphatase TUBB6 84617 genome.wustl.edu 37 18 12325778 12325778 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032525.1 +1 provisional p.M330I 1.000 155 0% 76 15.8% 12 0% benign(0.123) deleterious(0.01) neutral(0.416) superfamily_Tub_FtsZ_C,HMMPfam_Tubulin_C AFG3L2 10939 genome.wustl.edu 37 18 12351329 12351329 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006796.1 -1 reviewed p.R468C 1.000 156 0% 88 27.3% 64 35.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_AAA,HMMPfam_AAA,superfamily_SSF52540 SPIRE1 56907 genome.wustl.edu 37 18 12512498 12512498 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001128626.1 -1 validated p.S254 0.014 402 0.2% 253 14.2% 5 40% - - - NULL CEP192 55125 genome.wustl.edu 37 18 13049296 13049296 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032142.3 +1 validated p.A240T 0.001 370 0% 221 26.7% 9 55.5% benign(0) tolerated(0.31) neutral(0.027) NULL C18orf1 753 genome.wustl.edu 37 18 13645354 13645354 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181481.3 +1 validated p.A207T 1.000 135 0% 68 29.4% 9 22.2% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL MC5R 4161 genome.wustl.edu 37 18 13826716 13826716 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005913.1 +1 provisional p.A318T 0.000 98 1% 41 24.4% 0 - benign(0) tolerated(0.39) neutral(0.016) NULL LOC646359 646359 genome.wustl.edu 37 18 14378063 14378063 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_929288.3 -1 model p.L234 0.710 153 0% 91 26.4% 0 - - - - HMMPfam_TRF,superfamily_Telomeric repeat binding factor (TRF) dimerisation domain POTEC 388468 genome.wustl.edu 37 18 14511806 14511806 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000444806 -1 known p.A573V 0.001 203 0% 116 16.4% 0 - - - - NULL ENSG00000180777 0 genome.wustl.edu 37 18 14814680 14814680 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000320584 +1 known p.E193* 0.014 110 0.9% 64 12.5% 0 - - - - NULL ABHD3 171586 genome.wustl.edu 37 18 19239131 19239131 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138340.4 -1 reviewed p.K281R 1.000 190 0% 110 32.7% 13 46.1% benign(0) tolerated(1) - HMMPfam_Abhydrolase_1,superfamily_alpha/beta-Hydrolases RBBP8 5932 genome.wustl.edu 37 18 20562227 20562227 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002894.2 +1 reviewed p.V159I 0.959 268 0% 178 24.2% 48 20.8% benign(0) tolerated(0.24) neutral(0.037) NULL RBBP8 5932 genome.wustl.edu 37 18 20573117 20573117 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002894.2 +1 reviewed p.R443* 0.997 236 0% 154 24% 50 20% - - - NULL CABLES1 91768 genome.wustl.edu 37 18 20794000 20794000 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001100619.2 +1 validated p.R357H 1.000 426 0% 204 27% 8 50% probably_damaging(0.999) tolerated(0.3) deleterious(0.519) NULL C18orf8 29919 genome.wustl.edu 37 18 21110477 21110477 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013326.3 +1 validated p.A599T 1.000 152 0.7% 97 34% 27 33.3% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Mic1 NPC1 4864 genome.wustl.edu 37 18 21136235 21136235 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000271.4 -1 reviewed p.P433H 1.000 294 0% 151 25.8% 20 35% probably_damaging(0.976) deleterious(0) deleterious(0.863) HMMPfam_Patched NPC1 4864 genome.wustl.edu 37 18 21140242 21140242 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000271.4 -1 reviewed p.A278 0.003 321 0% 206 29.6% 11 63.6% - - - NULL LAMA3 3909 genome.wustl.edu 37 18 21526163 21526163 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198129.1 +1 reviewed p.A3089V 0.017 336 0% 206 16.5% 8 25% benign(0.001) tolerated(0.14) neutral(0.249) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 ZNF521 25925 genome.wustl.edu 37 18 22805247 22805247 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015461.2 -1 validated p.V879I 0.997 315 0% 189 30.2% 1 0% benign(0.004) tolerated(0.39) neutral(0.016) superfamily_C2H2 and C2HC zinc fingers SS18 6760 genome.wustl.edu 37 18 23667480 23667480 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001007559.1 -1 validated p.T44I 1.000 206 0% 125 28% 22 40.9% possibly_damaging(0.795) deleterious(0.01) deleterious(0.704) HMMPfam_SSXT KCTD1 284252 genome.wustl.edu 37 18 24039623 24039623 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142730.1 -1 validated p.R800 1.000 153 0% 73 27.4% 41 41.4% - - - NULL AQP4 361 genome.wustl.edu 37 18 24442317 24442317 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001650.4 -1 reviewed p.S92 0.179 241 0% 118 31.4% 0 - - - - HMMPfam_MIP,superfamily_Aquaporin-like CHST9 83539 genome.wustl.edu 37 18 24497149 24497149 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031422.4 -1 validated p.R136C 0.002 1218 0% 766 26.5% 0 - possibly_damaging(0.846) deleterious(0.01) deleterious(0.731) HMMPfam_Sulfotransfer_2 CDH2 1000 genome.wustl.edu 37 18 25573540 25573540 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001792.3 -1 reviewed p.G361D 1.000 370 0% 199 24.1% 54 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CDH2 1000 genome.wustl.edu 37 18 25585815 25585815 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001792.3 -1 reviewed p.P282H 1.000 359 0% 253 29.2% 22 40.9% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_Cadherin,superfamily_Cadherin-like DSC2 1824 genome.wustl.edu 37 18 28654750 28654750 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024422.3 -1 reviewed p.A596V 0.963 111 0% 96 20.8% 68 36.7% possibly_damaging(0.705) deleterious(0.01) deleterious(0.659) HMMSmart_SM00112,superfamily_Cadherin-like DSC2 1824 genome.wustl.edu 37 18 28659899 28659899 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024422.3 -1 reviewed p.S526L 0.113 583 0% 438 29.9% 48 54.1% benign(0.002) tolerated(0.29) neutral(0.029) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DSC1 1823 genome.wustl.edu 37 18 28722109 28722109 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024421.2 -1 reviewed p.E371D 0.110 347 0% 199 32.2% 0 - benign(0.3) deleterious(0.01) deleterious(0.499) HMMPfam_Cadherin,superfamily_Cadherin-like DSC1 1823 genome.wustl.edu 37 18 28736009 28736009 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024421.2 -1 reviewed p.Q156 1.000 162 0% 99 25.3% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DSG1 1828 genome.wustl.edu 37 18 28934858 28934858 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001942.2 +1 reviewed p.A900E 0.999 574 0.2% 356 11.8% 0 - probably_damaging(1) tolerated(0.37) deleterious(0.519) NULL DSG4 147409 genome.wustl.edu 37 18 28991317 28991317 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001134453.1 +1 reviewed p.G773V 0.899 70 0% 46 10.9% 0 - unknown(0) deleterious(0) - NULL DSG3 1830 genome.wustl.edu 37 18 29037016 29037016 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001944.2 +1 reviewed p.R49C 1.000 645 0.2% 480 29% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DSG2 1829 genome.wustl.edu 37 18 29111056 29111056 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001943.3 +1 reviewed p.P374L 0.994 465 0.2% 265 25.3% 59 49.1% possibly_damaging(0.926) tolerated(0.26) neutral(0.408) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin DSG2 1829 genome.wustl.edu 37 18 29125767 29125767 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001943.3 +1 reviewed p.S806 0.032 383 0.3% 282 28.7% 79 45.5% - - - NULL TRAPPC8 22878 genome.wustl.edu 37 18 29477855 29477855 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014939.3 -1 validated e11-1 1.000 109 0.9% 69 24.6% 0 - - - - - RNF125 54941 genome.wustl.edu 37 18 29622236 29622236 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017831.3 +1 reviewed p.R138M 0.990 60 0% 29 20.7% 10 0% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL MEP1B 4225 genome.wustl.edu 37 18 29793098 29793098 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005925.2 +1 validated p.W385C 1.000 361 0% 194 28.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MAM,HMMSmart_SM00137 MEP1B 4225 genome.wustl.edu 37 18 29793441 29793441 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005925.2 +1 validated p.T500A 1.000 310 0% 153 26.1% 0 - benign(0.031) tolerated(0.29) neutral(0.031) HMMPfam_MATH,HMMSmart_SM00061,superfamily_TRAF domain-like FAM59A 64762 genome.wustl.edu 37 18 29848004 29848004 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022751.1 -1 provisional p.R820W 0.922 111 0% 50 30% 6 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_SAM_1,superfamily_SAM_homology NOL4 8715 genome.wustl.edu 37 18 31709947 31709947 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003787.3 -1 validated p.R101Q 1.000 458 0% 352 27% 0 - possibly_damaging(0.95) deleterious(0.01) deleterious(0.799) NULL ZNF397 84307 genome.wustl.edu 37 18 32825920 32825920 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001135178.2 +1 reviewed p.R417 1.000 98 0% 58 17.2% 12 25% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF24 7572 genome.wustl.edu 37 18 32920289 32920289 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006965.2 -1 validated p.Q109L 1.000 880 0% 535 31.4% 29 27.5% unknown(0) deleterious(0) - HMMPfam_SCAN,HMMSmart_SCAN SLC39A6 25800 genome.wustl.edu 37 18 33689577 33689577 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012319.3 -1 validated p.I749 1.000 318 0% 199 21.1% 60 3.3% - - - NULL SLC39A6 25800 genome.wustl.edu 37 18 33706379 33706379 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012319.3 -1 validated p.G198* 1.000 312 0% 156 20.5% 68 7.3% - - - NULL MOCOS 55034 genome.wustl.edu 37 18 33775247 33775247 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017947.2 +1 validated p.A57V 1.000 160 0% 69 30.4% 2 50% possibly_damaging(0.844) deleterious(0.03) deleterious(0.688) HMMPfam_Aminotran_5,superfamily_PLP-dependent transferases MOCOS 55034 genome.wustl.edu 37 18 33793366 33793366 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017947.2 +1 validated p.R419Q 1.000 69 0% 48 16.7% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Aminotran_5,superfamily_PLP-dependent transferases TPGS2 25941 genome.wustl.edu 37 18 34398894 34398894 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015476.2 -1 provisional p.P43H 0.001 191 0% 104 15.4% 135 35.5% possibly_damaging(0.654) tolerated(0.13) deleterious(0.483) NULL KIAA1328 57536 genome.wustl.edu 37 18 34802112 34802112 + Silent SNP C C A rs9953605 byCluster;by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020776.1 +1 validated p.T552 0.000 141 0.7% 65 35.4% 1 100% - - - NULL CELF4 56853 genome.wustl.edu 37 18 34855149 34855149 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020180.3 -1 reviewed p.R169H 1.000 79 0% 29 27.6% 0 - probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD PIK3C3 5289 genome.wustl.edu 37 18 39609395 39609395 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002647.2 +1 validated p.R566H 1.000 177 0.6% 108 27.8% 15 26.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Kinase_like PIK3C3 5289 genome.wustl.edu 37 18 39623769 39623769 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002647.2 +1 validated p.V726I 1.000 288 0% 156 34% 29 55.1% benign(0.317) tolerated(0.72) neutral(0.101) HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,superfamily_Kinase_like SYT4 6860 genome.wustl.edu 37 18 40853973 40853973 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020783.3 -1 validated p.S141P 1.000 232 0% 172 31.4% 0 - benign(0.001) tolerated(0.25) neutral(0.037) NULL SETBP1 26040 genome.wustl.edu 37 18 42532311 42532311 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015559.2 +1 validated p.D1002 1.000 409 0.2% 258 25.6% 3 66.6% - - - NULL SLC14A2 8170 genome.wustl.edu 37 18 43246111 43246111 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007163.3 +1 validated p.K495R 0.755 269 0.4% 151 24.5% 0 - probably_damaging(0.962) deleterious(0) deleterious(0.850) NULL EPG5 57724 genome.wustl.edu 37 18 43440240 43440240 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020964.2 -1 validated p.A2280T 0.951 208 0% 127 31.5% 18 16.6% benign(0.124) tolerated(0.53) neutral(0.018) NULL EPG5 57724 genome.wustl.edu 37 18 43496115 43496115 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020964.2 -1 validated p.E1147D 1.000 208 0% 114 15.8% 2 0% possibly_damaging(0.858) tolerated(0.09) deleterious(0.627) NULL RNF165 494470 genome.wustl.edu 37 18 44013185 44013185 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152470.2 +1 validated p.A32T 1.000 18 0.000 9 0.444 0 - probably_damaging(0.989) tolerated(0.11) deleterious(0.711) NULL ST8SIA5 29906 genome.wustl.edu 37 18 44284628 44284628 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013305.4 -1 reviewed e2-1 1.000 271 0.4% 164 24.4% 0 - - - - - PIAS2 9063 genome.wustl.edu 37 18 44407979 44407979 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004671.2 -1 validated p.P484H 1.000 292 0% 248 31.5% 26 65.3% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL TCEB3B 51224 genome.wustl.edu 37 18 44559495 44559495 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016427.2 -1 reviewed p.L714P 0.000 121 0% 55 25.5% 0 - probably_damaging(0.997) tolerated(0.66) deleterious(0.469) NULL SMAD2 4087 genome.wustl.edu 37 18 45395657 45395657 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001003652.2 -1 reviewed p.E159D 1.000 122 0% 80 25% 66 46.9% possibly_damaging(0.857) tolerated(0.26) neutral(0.365) HMMPfam_MH1,HMMSmart_SM00523,superfamily_SMAD MH1 domain CTIF 9811 genome.wustl.edu 37 18 46238044 46238044 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142397.1 +1 validated p.R188C 1.000 253 0% 107 25.2% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DYM 54808 genome.wustl.edu 37 18 46798650 46798650 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017653.3 -1 reviewed p.L383 0.302 217 0% 150 29.3% 33 72.7% - - - HMMPfam_Dymeclin LIPG 9388 genome.wustl.edu 37 18 47101787 47101787 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006033.2 +1 reviewed p.R207M 1.000 126 0% 68 33.8% 2 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases MYO5B 4645 genome.wustl.edu 37 18 47364146 47364146 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080467.2 -1 reviewed p.I1627V 1.000 156 0% 58 25.9% 33 24.2% possibly_damaging(0.868) deleterious(0.02) deleterious(0.720) NULL MYO5B 4645 genome.wustl.edu 37 18 47421460 47421460 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080467.2 -1 reviewed p.L966M 1.000 88 0% 44 25% 11 54.5% possibly_damaging(0.653) tolerated(0.09) deleterious(0.526) NULL MYO5B 4645 genome.wustl.edu 37 18 47500878 47500878 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080467.2 -1 reviewed p.Y388 0.935 430 0% 254 33.1% 14 35.7% - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYO5B 4645 genome.wustl.edu 37 18 47518770 47518770 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080467.2 -1 reviewed p.D215V 1.000 888 0.1% 534 29.2% 13 46.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases SKA1 220134 genome.wustl.edu 37 18 47917598 47917598 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001039535.2 +1 validated p.S185Y 1.000 299 0% 192 31.2% 6 50% probably_damaging(0.979) deleterious(0.02) deleterious(0.805) HMMPfam_DUF1395 MEX3C 51320 genome.wustl.edu 37 18 48703694 48703694 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016626.4 -1 reviewed p.R336H 1.000 230 0% 119 42% 28 46.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_KH,HMMPfam_KH_1,superfamily_SSF54791 DCC 1630 genome.wustl.edu 37 18 50985744 50985744 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005215.3 +1 reviewed p.P1179T 1.000 644 0% 351 24.5% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Neogenin_C DCC 1630 genome.wustl.edu 37 18 51025806 51025806 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005215.3 +1 reviewed p.A1346V 1.000 361 0% 252 30.2% 0 - probably_damaging(0.975) deleterious(0.01) deleterious(0.823) HMMPfam_Neogenin_C MBD2 8932 genome.wustl.edu 37 18 51686193 51686193 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003927.3 -1 reviewed p.D397G 0.998 243 0% 138 32.6% 256 55.4% possibly_damaging(0.474) tolerated(0.08) neutral(0.457) NULL C18orf54 162681 genome.wustl.edu 37 18 51886948 51886948 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173529.4 +1 validated p.A2 0.970 321 0% 194 27.3% 0 - - - - NULL CCDC68 80323 genome.wustl.edu 37 18 52604116 52604116 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001143829.1 -1 validated p.T140M 0.020 104 1% 67 40.3% 0 - probably_damaging(0.998) tolerated(0.06) deleterious(0.797) NULL TCF4 6925 genome.wustl.edu 37 18 52896225 52896225 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001083962.1 -1 reviewed p.R578C 1.000 208 0% 133 12% 16 6.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic TXNL1 9352 genome.wustl.edu 37 18 54270181 54270181 + RNA SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NR_024546.1 -1 validated NULL 1.000 138 0% 99 32.3% 104 40.3% - - - - ATP8B1 5205 genome.wustl.edu 37 18 55398983 55398983 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005603.4 -1 reviewed p.D19 0.997 684 0.1% 398 10.6% 7 0% - - - superfamily_SSF81665 ALPK2 115701 genome.wustl.edu 37 18 56184342 56184342 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052947.3 -1 validated p.R1913H 0.941 242 0% 141 33.3% 0 - benign(0.005) tolerated(1) - HMMPfam_Alpha_kinase,HMMSmart_SM00811,superfamily_Protein kinase-like (PK-like) ALPK2 115701 genome.wustl.edu 37 18 56203086 56203086 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052947.3 -1 validated p.A1445S 0.000 186 0.5% 113 11.5% 0 - benign(0.032) deleterious(0.04) neutral(0.350) NULL MALT1 10892 genome.wustl.edu 37 18 56400687 56400687 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006785.2 +1 reviewed p.P427 0.961 320 0.3% 196 31.1% 10 40% - - - HMMPfam_Peptidase_C14,superfamily_Caspase-like ZNF532 55205 genome.wustl.edu 37 18 56586449 56586449 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018181.4 +1 validated p.A310 0.000 1014 0.1% 539 26% 13 53.8% - - - NULL ZNF532 55205 genome.wustl.edu 37 18 56587363 56587363 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018181.4 +1 validated p.G615V 1.000 282 0% 155 11% 18 5.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF532 55205 genome.wustl.edu 37 18 56587790 56587790 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018181.4 +1 validated p.L757 1.000 292 0% 150 27.3% 29 31% - - - HMMSmart_ZnF_C2H2 ZNF532 55205 genome.wustl.edu 37 18 56615411 56615411 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018181.4 +1 validated p.D940N 1.000 327 0% 198 28.8% 15 13.3% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 CCBE1 147372 genome.wustl.edu 37 18 57103373 57103373 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133459.3 -1 reviewed p.G330* 1.000 140 0% 96 12.5% 0 - - - - HMMPfam_Collagen CCBE1 147372 genome.wustl.edu 37 18 57106930 57106930 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133459.3 -1 reviewed p.K298 1.000 388 0% 222 26.1% 0 - - - - NULL CDH20 28316 genome.wustl.edu 37 18 59166445 59166445 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031891.2 +1 reviewed p.D91 0.975 50 0% 35 20% 1 100% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CDH20 28316 genome.wustl.edu 37 18 59203799 59203799 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031891.2 +1 reviewed p.A449T 1.000 354 0% 225 22.2% 0 - benign(0.167) tolerated(0.81) neutral(0.015) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CDH20 28316 genome.wustl.edu 37 18 59217384 59217384 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031891.2 +1 reviewed p.P608T 1.000 146 0% 54 13% 0 - benign(0.002) tolerated(0.33) neutral(0.024) NULL ZCCHC2 54877 genome.wustl.edu 37 18 60242410 60242410 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017742.4 +1 validated p.Y1032 1.000 94 0% 53 34% 14 42.8% - - - NULL PHLPP1 23239 genome.wustl.edu 37 18 60527705 60527705 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_194449.2 +1 validated p.C134Y 1.000 158 0% 92 33.7% 8 37.5% benign(0.031) tolerated(0.12) neutral(0.262) superfamily_L domain-like PHLPP1 23239 genome.wustl.edu 37 18 60630707 60630707 + Splice_Site SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_194449.2 +1 validated e14+2 1.000 73 0% 51 19.6% 0 - - - - - VPS4B 9525 genome.wustl.edu 37 18 61067300 61067300 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004869.3 -1 reviewed p.E257D 1.000 149 0% 78 29.5% 39 41% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMSmart_SM00382,HMMPfam_AAA,superfamily_P-loop containing nucleoside triphosphate hydrolases SERPINB2 5055 genome.wustl.edu 37 18 61558779 61558779 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001143818.1 +1 validated p.S34I 1.000 151 0% 83 27.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin HMSD 284293 genome.wustl.edu 37 18 61620716 61620716 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001123366.1 +1 validated p.M9I 1.000 127 0% 66 31.8% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Serpin,superfamily_Serpins CDH7 1005 genome.wustl.edu 37 18 63511156 63511156 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004361.2 +1 reviewed p.V364M 1.000 211 0% 191 25.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CDH7 1005 genome.wustl.edu 37 18 63525076 63525076 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004361.2 +1 reviewed p.D420 1.000 403 0% 276 26.1% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CDH7 1005 genome.wustl.edu 37 18 63547731 63547731 + Silent SNP C C T rs180736216 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004361.2 +1 reviewed p.Y653 0.214 123 0% 86 34.9% 0 - - - - HMMPfam_Cadherin_C DOK6 220164 genome.wustl.edu 37 18 67425047 67425047 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152721.5 +1 validated p.R265H 0.997 201 1% 158 34.8% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TIMM21 29090 genome.wustl.edu 37 18 71822421 71822421 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014177.2 +1 validated p.L115I 1.000 209 0% 129 24.8% 28 53.5% probably_damaging(0.975) tolerated(0.31) neutral(0.444) HMMPfam_TIM21 CYB5A 1528 genome.wustl.edu 37 18 71920858 71920858 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_148923.2 -1 validated p.A122 0.000 45 0% 28 28.6% 168 41% - - - NULL CNDP1 84735 genome.wustl.edu 37 18 72226605 72226605 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032649.5 +1 reviewed p.V67 0.417 116 0% 45 26.7% 0 - - - - superfamily_Zn-dependent exopeptidases TSHZ1 10194 genome.wustl.edu 37 18 72998643 72998643 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005786.4 +1 reviewed p.T382 0.501 61 0% 44 29.5% 77 48% - - - HMMSmart_SM00355 TSHZ1 10194 genome.wustl.edu 37 18 72998832 72998832 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005786.4 +1 reviewed p.P445 0.018 69 0% 38 34.2% 35 54.2% - - - NULL ZNF236 7776 genome.wustl.edu 37 18 74592114 74592114 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007345.3 +1 validated p.A342S 0.068 128 0% 81 23.5% 2 0% benign(0) tolerated(0.6) neutral(0.004) NULL ZNF236 7776 genome.wustl.edu 37 18 74625794 74625794 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007345.3 +1 validated p.L999F 1.000 311 0% 179 26.3% 3 33.3% possibly_damaging(0.807) tolerated(0.18) neutral(0.360) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MBP 4155 genome.wustl.edu 37 18 74728960 74728960 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001025101.1 -1 reviewed p.A135V 1.000 143 0% 50 22% 17 35.2% benign(0.014) deleterious(0) neutral(0.445) NULL ATP9B 374868 genome.wustl.edu 37 18 76870408 76870408 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198531.3 +1 validated p.R116H 1.000 310 0% 231 27.7% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NFATC1 4772 genome.wustl.edu 37 18 77170429 77170429 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_172387.1 +1 reviewed p.V39I 0.000 57 0% 40 20% 1 0% benign(0.001) tolerated(0.41) neutral(0.015) NULL NFATC1 4772 genome.wustl.edu 37 18 77211760 77211760 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_172387.1 +1 reviewed p.L603P 0.994 43 0% 23 39.1% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains NFATC1 4772 genome.wustl.edu 37 18 77287539 77287539 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_172387.1 +1 reviewed p.I919L 0.960 150 0% 69 20.3% 1 0% benign(0) tolerated(0.91) - NULL CTDP1 9150 genome.wustl.edu 37 18 77477958 77477958 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004715.3 +1 reviewed p.R787W 0.012 58 0% 21 28.6% 15 26.6% possibly_damaging(0.943) deleterious(0.03) deleterious(0.752) HMMPfam_FCP1_C RBFA 79863 genome.wustl.edu 37 18 77796710 77796710 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024805.2 +1 validated p.S67 0.998 66 0% 38 34.2% 8 0% - - - NULL RBFA 79863 genome.wustl.edu 37 18 77805799 77805799 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024805.2 +1 validated p.G226S 0.001 88 0% 42 14.3% 8 25% possibly_damaging(0.452) tolerated(0.77) neutral(0.149) NULL ADNP2 22850 genome.wustl.edu 37 18 77893997 77893997 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014913.3 +1 validated p.I234S 0.613 229 0% 140 28.6% 28 71.4% probably_damaging(0.981) deleterious(0) deleterious(0.870) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers THEG 51298 genome.wustl.edu 37 19 371249 371249 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016585.3 -1 reviewed p.A237T 0.004 41 0% 28 28.6% 0 - benign(0.001) tolerated(1) - HMMSmart_SM00705 ARID3A 1820 genome.wustl.edu 37 19 964846 964846 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005224.2 +1 reviewed p.L322M 1.000 22 0% 12 50% 11 45.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ARID,HMMSmart_BRIGHT,superfamily_ARID UQCR11 10975 genome.wustl.edu 37 19 1599477 1599477 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006830.3 -1 reviewed p.V45I 1.000 37 0% 22 18.2% 328 20.1% possibly_damaging(0.783) deleterious(0.02) deleterious(0.676) HMMPfam_UCR_6-4kD,superfamily_Subunit XI (6.4 kDa protein) of cytochrome bc1 complex (Ubiquinol-cytochrome c reductase) CSNK1G2-AS1 255193 genome.wustl.edu 37 19 1953900 1953900 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000314315 -1 known p.R79Q 0.005 41 0% 28 42.9% 1 0% - - - NULL LMNB2 84823 genome.wustl.edu 37 19 2431617 2431617 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032737.2 -1 reviewed p.R564C 0.017 113 0% 53 22.6% 26 53.8% probably_damaging(0.968) deleterious(0.04) deleterious(0.759) superfamily_SSF74853 ZNF554 115196 genome.wustl.edu 37 19 2834161 2834161 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001102651.1 +1 validated p.A310S 0.001 126 0.8% 66 31.8% 1 0% benign(0.417) tolerated(0.57) neutral(0.141) NULL ZNF57 126295 genome.wustl.edu 37 19 2918071 2918071 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173480.2 +1 validated p.T484 0.061 249 0.4% 135 28.1% 6 83.3% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers NCLN 56926 genome.wustl.edu 37 19 3198836 3198836 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020170.3 +1 validated p.G213R 1.000 19 0% 11 45.5% 97 32.9% possibly_damaging(0.91) tolerated(0.53) neutral(0.370) superfamily_Zn-dependent exopeptidases TJP3 27134 genome.wustl.edu 37 19 3733786 3733786 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014428.1 +1 provisional p.N270 0.002 284 0% 137 29.2% 77 45.4% - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like TJP3 27134 genome.wustl.edu 37 19 3747912 3747912 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014428.1 +1 provisional p.A848T 0.896 13 0% 10 60% 78 35.8% benign(0.001) tolerated(0.06) neutral(0.323) NULL ATCAY 85300 genome.wustl.edu 37 19 3907778 3907778 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033064.4 +1 reviewed p.A135 0.012 55 0% 30 26.7% 0 - - - - NULL STAP2 55620 genome.wustl.edu 37 19 4325442 4325442 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017720.2 -1 reviewed p.Y310 0.891 247 0% 106 22.6% 18 11.1% - - - NULL SH3GL1 6455 genome.wustl.edu 37 19 4363446 4363446 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003025.2 -1 provisional p.A217T 0.960 15 0.000 9 0.444 136 40.4% benign(0.057) tolerated(0.35) neutral(0.024) HMMPfam_BAR,HMMSmart_SM00721 DPP9 91039 genome.wustl.edu 37 19 4694769 4694769 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_139159.4 -1 reviewed p.N474D 1.000 29 0% 10 50% 40 35% possibly_damaging(0.49) deleterious(0.03) deleterious(0.527) HMMPfam_DPPIV_N,superfamily_SSF82171 PLIN3 10226 genome.wustl.edu 37 19 4847789 4847789 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005817.4 -1 reviewed p.A250T 0.974 46 0% 17 41.2% 138 39.1% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_Perilipin,superfamily_Mannose-6-phosphate receptor binding protein 1 (Tip47) C-terminal domain UHRF1 29128 genome.wustl.edu 37 19 4929334 4929334 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000398240 +1 known p.E98A 1.000 63 0% 28 25% 22 40.9% benign(0.124) tolerated(0.25) neutral(0.047) superfamily_Ubiquitin-like KDM4B 23030 genome.wustl.edu 37 19 5032994 5032994 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015015.2 +1 validated p.Y31 0.986 87 0% 37 29.7% 26 38.4% - - - HMMPfam_JmjN,HMMSmart_SM00545 LOC100130109 100130109 genome.wustl.edu 37 19 5576680 5576680 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_001726381.2 -1 model p.V90 0.957 229 0.4% 128 10.9% 0 - - - - superfamily_Sm-like ribonucleoproteins DUS3L 56931 genome.wustl.edu 37 19 5790184 5790184 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020175.2 -1 validated p.T87 0.000 78 0% 45 24.4% 28 35.7% - - - NULL FUT6 2528 genome.wustl.edu 37 19 5831617 5831617 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000150.2 -1 reviewed p.W321* 1.000 112 0% 47 25.5% 2 0% - - - HMMPfam_Glyco_transf_10 FUT6 2528 genome.wustl.edu 37 19 5832103 5832103 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000150.2 -1 reviewed p.R159H 0.980 48 0% 25 24% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Glyco_transf_10 FUT3 2525 genome.wustl.edu 37 19 5844228 5844228 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000149.3 -1 reviewed p.R208H 0.033 145 0% 71 25.4% 3 0% benign(0.162) tolerated(0.07) neutral(0.334) HMMPfam_Glyco_transf_10 ACSBG2 81616 genome.wustl.edu 37 19 6156482 6156482 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030924.3 +1 validated p.V143I 0.995 486 0% 279 29% 0 - benign(0) deleterious(0.04) neutral(0.349) HMMPfam_AMP-binding,superfamily_SSF56801 ACSBG2 81616 genome.wustl.edu 37 19 6177296 6177296 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030924.3 +1 validated p.E265D 0.655 113 0.9% 68 32.4% 0 - benign(0.008) tolerated(0.2) neutral(0.049) HMMPfam_AMP-binding,superfamily_SSF56801 GTF2F1 2962 genome.wustl.edu 37 19 6381378 6381378 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002096.2 -1 validated p.R337H 0.999 44 0% 27 33.3% 115 40.8% possibly_damaging(0.945) tolerated(0.05) deleterious(0.735) HMMPfam_TFIIF_alpha GTF2F1 2962 genome.wustl.edu 37 19 6387444 6387444 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002096.2 -1 validated p.R151 1.000 61 0% 44 25% 72 55.5% - - - HMMPfam_TFIIF_alpha,superfamily_Rap30/74 interaction domains KHSRP 8570 genome.wustl.edu 37 19 6416628 6416628 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003685.2 -1 validated p.T454M 1.000 35 0% 17 58.8% 170 48.8% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) SLC25A23 79085 genome.wustl.edu 37 19 6452478 6452478 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024103.2 -1 validated p.R306W 0.906 32 0% 19 42.1% 59 42.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Mitochondrial carrier,HMMPfam_Mito_carr CRB3 92359 genome.wustl.edu 37 19 6465593 6465593 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_174881.2 +1 reviewed p.L40 0.001 360 0% 196 11.7% 52 23% - - - NULL TUBB4A 10382 genome.wustl.edu 37 19 6495667 6495667 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006087.2 -1 provisional p.Y281* 1.000 189 0% 119 34.5% 0 - - - - superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C C3 718 genome.wustl.edu 37 19 6678433 6678433 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000064.2 -1 reviewed p.S1555Y 0.000 168 0% 103 30.1% 234 0.8% possibly_damaging(0.876) deleterious(0.03) deleterious(0.706) superfamily_TIMP-like,HMMPfam_NTR,HMMSmart_SM00643 C3 718 genome.wustl.edu 37 19 6686258 6686258 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000064.2 -1 reviewed p.N1229 0.009 730 0.1% 394 29.4% 66 0% - - - superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp C3 718 genome.wustl.edu 37 19 6694526 6694526 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000064.2 -1 reviewed p.A1024T 1.000 139 0% 86 26.7% 46 2.1% possibly_damaging(0.642) deleterious(0.01) deleterious(0.631) superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_Thiol-ester_cl TRIP10 9322 genome.wustl.edu 37 19 6743220 6743220 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004240.2 +1 validated p.R121W 0.597 80 0% 54 18.5% 24 29.1% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL VAV1 7409 genome.wustl.edu 37 19 6833918 6833918 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005428.2 +1 reviewed e19-1 0.996 321 0% 202 13.9% 0 - - - - - INSR 3643 genome.wustl.edu 37 19 7120729 7120729 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000208.2 -1 reviewed p.T1187 0.933 198 0% 106 25.5% 6 0% - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,PatternScan_RECEPTOR_TYR_KIN_II,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) INSR 3643 genome.wustl.edu 37 19 7166218 7166218 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000208.2 -1 reviewed p.R603H 0.998 260 0% 181 28.7% 4 0% benign(0.003) tolerated(0.45) neutral(0.012) superfamily_Fibronectin type III ZNF358 140467 genome.wustl.edu 37 19 7585210 7585210 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018083.4 +1 validated p.A361V 0.702 44 0% 29 37.9% 68 44.1% possibly_damaging(0.939) tolerated(0.11) deleterious(0.656) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 MCOLN1 57192 genome.wustl.edu 37 19 7591758 7591758 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020533.2 +1 reviewed p.G173C 0.999 91 0% 38 39.5% 27 3.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL MCOLN1 57192 genome.wustl.edu 37 19 7593142 7593142 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020533.2 +1 reviewed p.H292 0.707 44 0% 32 34.4% 23 17.3% - - - NULL XAB2 56949 genome.wustl.edu 37 19 7691141 7691141 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020196.2 -1 validated p.A180T 1.000 69 0% 28 25% 44 40.9% benign(0.047) tolerated(0.24) neutral(0.041) superfamily_SSF48452 CD209 30835 genome.wustl.edu 37 19 7807918 7807918 + RNA SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NR_026692.1 -1 reviewed NULL 0.001 675 0% 413 29.1% 0 - - - - - CD209 30835 genome.wustl.edu 37 19 7810570 7810570 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021155.3 -1 reviewed p.Q194H 0.002 1259 0% 625 21.6% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL CLEC4M 10332 genome.wustl.edu 37 19 7834043 7834043 + RNA SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NR_026707.1 +1 reviewed NULL 0.000 44 0% 27 18.5% 0 - - - - - LRRC8E 80131 genome.wustl.edu 37 19 7964276 7964276 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025061.3 +1 validated p.T290M 0.942 42 4.8% 19 36.8% 13 23% benign(0.035) tolerated(0.08) neutral(0.302) NULL SNAPC2 6618 genome.wustl.edu 37 19 7986379 7986379 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003083.3 +1 reviewed p.G85 0.012 52 0% 25 20% 18 55.5% - - - NULL TIMM44 10469 genome.wustl.edu 37 19 7999096 7999096 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006351.3 -1 validated p.L141I 0.349 54 0% 31 22.6% 35 51.4% benign(0.001) tolerated(0.43) neutral(0.013) NULL FBN3 84467 genome.wustl.edu 37 19 8174532 8174532 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032447.3 -1 reviewed p.S1480I 0.998 264 0% 125 30.4% 0 - possibly_damaging(0.795) deleterious(0.01) deleterious(0.704) HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,superfamily_EGF/Laminin HNRNPM 4670 genome.wustl.edu 37 19 8550678 8550678 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005968.3 +1 validated p.R456C 0.996 102 0% 42 23.8% 333 3.6% benign(0.028) deleterious(0) neutral(0.446) NULL MYO1F 4542 genome.wustl.edu 37 19 8595163 8595163 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012335.3 -1 validated p.R749W 1.000 415 0.2% 226 35% 8 0% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_Myosin_TH1 ADAMTS10 81794 genome.wustl.edu 37 19 8665853 8665853 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030957.2 -1 reviewed p.R257C 1.000 237 0% 151 30.5% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_Reprolysin,superfamily_SSF55486 OR2Z1 284383 genome.wustl.edu 37 19 8842035 8842035 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004699.1 +1 provisional p.A215 0.000 226 0% 125 15.2% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR2Z1 284383 genome.wustl.edu 37 19 8842119 8842119 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004699.1 +1 provisional p.S243 0.006 200 0.5% 126 11.1% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MBD3L1 85509 genome.wustl.edu 37 19 8953616 8953616 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145208.2 +1 reviewed p.D88N 0.111 367 0% 199 25.6% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL MUC16 94025 genome.wustl.edu 37 19 9056889 9056889 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024690.2 -1 validated p.T10186I 0.000 129 0% 98 25.5% 0 - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9073678 9073678 + Missense_Mutation SNP C C A rs115311327 byFrequency;by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024690.2 -1 validated p.D4590Y 0.000 353 0% 260 29.2% 0 - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9074765 9074765 + Missense_Mutation SNP C C A rs77727786 byCluster;byFrequency;by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024690.2 -1 validated p.E4227D 0.000 399 0.3% 304 28.3% 0 - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9077463 9077463 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024690.2 -1 validated p.G3328V 0.000 744 0% 601 11% 0 - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9077866 9077866 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024690.2 -1 validated e3-1 0.719 601 0% 420 30% 0 - - - - - MUC16 94025 genome.wustl.edu 37 19 9082412 9082412 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024690.2 -1 validated p.A3135T 0.020 339 0.3% 245 26.9% 0 - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9083333 9083333 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024690.2 -1 validated p.A2828S 0.092 150 0% 109 27.5% 0 - unknown(0) - - NULL MUC16 94025 genome.wustl.edu 37 19 9085140 9085140 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024690.2 -1 validated p.G2225 0.268 266 0% 135 25.2% 0 - - - - NULL OR1M1 125963 genome.wustl.edu 37 19 9204662 9204662 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004456.1 +1 provisional p.V248I 0.222 412 0.2% 205 29.8% 0 - probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR7G2 390882 genome.wustl.edu 37 19 9213424 9213424 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005193.1 -1 provisional p.L187M 0.006 267 0% 155 24.5% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like OR7G2 390882 genome.wustl.edu 37 19 9213832 9213832 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005193.1 -1 provisional p.L51M 0.015 363 0% 252 29.4% 0 - possibly_damaging(0.51) tolerated(0.11) neutral(0.443) superfamily_Family A G protein-coupled receptor-like ZNF317 57693 genome.wustl.edu 37 19 9271023 9271023 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020933.3 +1 provisional p.S234 0.000 298 0% 165 25.5% 27 48.1% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers OR7D2 162998 genome.wustl.edu 37 19 9296624 9296624 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175883.1 +1 provisional p.H56R 1.000 524 0.2% 349 27.5% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_7tm_1,superfamily_SSF81321 ENSG00000188314 0 genome.wustl.edu 37 19 9346789 9346789 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000344049 +1 known p.Y219N 0.000 145 0% 105 11.4% 0 - unknown(0) deleterious(0) - NULL OR7E24 26648 genome.wustl.edu 37 19 9361856 9361856 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001079935.1 +1 provisional p.A46V 0.000 206 0% 165 36.4% 0 - benign(0) deleterious(0.03) neutral(0.364) superfamily_Family A G protein-coupled receptor-like ZNF560 147741 genome.wustl.edu 37 19 9578582 9578582 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152476.2 -1 validated p.P347 0.000 362 0% 199 12.1% 0 - - - - superfamily_SSF57667 ZNF562 54811 genome.wustl.edu 37 19 9768737 9768737 + Frame_Shift_Del DEL T T - novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130031.1 -1 validated p.K63fs 0.032 - - - - - - - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) UBL5 59286 genome.wustl.edu 37 19 9939272 9939272 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001048241.1 +1 validated p.D21N 0.985 166 0% 84 20.2% 439 39.6% benign(0.003) tolerated(0.07) neutral(0.319) superfamily_Ubiquitin-like C19orf66 55337 genome.wustl.edu 37 19 10197971 10197971 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018381.2 +1 validated p.A64T 0.962 194 0% 72 26.4% 13 15.3% probably_damaging(0.959) tolerated(0.53) neutral(0.410) NULL P2RY11 5032 genome.wustl.edu 37 19 10224767 10224767 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002566.4 +1 reviewed p.L160 0.885 37 0% 20 25% 23 56.5% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like P2RY11 5032 genome.wustl.edu 37 19 10225023 10225023 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002566.4 +1 reviewed p.R245H 0.005 50 0% 33 42.4% 24 33.3% benign(0.097) deleterious(0.01) neutral(0.413) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like DNMT1 1786 genome.wustl.edu 37 19 10257086 10257086 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130823.1 -1 reviewed p.N945 0.229 65 0% 28 17.9% 54 31.4% - - - NULL ICAM1 3383 genome.wustl.edu 37 19 10394938 10394938 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000201.2 +1 reviewed p.T289 0.003 72 0% 42 26.2% 15 0% - - - superfamily_Immunoglobulin TYK2 7297 genome.wustl.edu 37 19 10475711 10475711 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003331.4 -1 reviewed p.S342N 0.000 33 0% 18 38.9% 26 53.8% benign(0.003) tolerated(0.56) neutral(0.006) NULL PDE4A 5141 genome.wustl.edu 37 19 10574519 10574519 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001111307.1 +1 validated p.P598 0.925 122 0.8% 62 30.6% 2 0% - - - HMMPfam_PDEase_I,HMMSmart_SM00471,superfamily_HD-domain/PDEase-like PDE4A 5141 genome.wustl.edu 37 19 10578110 10578110 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001111307.1 +1 validated p.R825M 1.000 152 0% 78 29.5% 4 25% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL KRI1 65095 genome.wustl.edu 37 19 10668655 10668655 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_023008.3 -1 validated p.N457S 1.000 38 0% 28 25% 22 40.9% benign(0) tolerated(0.05) neutral(0.345) HMMPfam_Kri1 KRI1 65095 genome.wustl.edu 37 19 10671739 10671739 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_023008.3 -1 validated p.D207 0.995 80 0% 56 19.6% 15 13.3% - - - NULL QTRT1 81890 genome.wustl.edu 37 19 10823435 10823435 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031209.2 +1 validated p.R288H 1.000 105 1% 46 10.9% 79 43% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TGT,superfamily_tRNA_ribo_trans DNM2 1785 genome.wustl.edu 37 19 10906804 10906804 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005360.1 +1 reviewed p.E422* 1.000 349 0% 183 27.9% 48 6.2% - - - HMMPfam_Dynamin_M DNM2 1785 genome.wustl.edu 37 19 10935828 10935828 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005360.1 +1 reviewed p.Y663 0.895 125 0.8% 48 22.9% 109 57.7% - - - HMMPfam_GED,HMMSmart_SM00302 CARM1 10498 genome.wustl.edu 37 19 11031118 11031118 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_199141.1 +1 validated p.T401 0.151 57 0% 22 18.2% 84 45.2% - - - superfamily_SSF53335 YIPF2 78992 genome.wustl.edu 37 19 11034825 11034825 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024029.3 -1 provisional p.V137 0.830 23 0% 16 43.8% 173 57.2% - - - HMMPfam_Yip1 LDLR 3949 genome.wustl.edu 37 19 11240348 11240348 + Splice_Site SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000527.3 +1 reviewed e17+2 1.000 63 1.6% 29 20.7% 10 100% - - - - DOCK6 57572 genome.wustl.edu 37 19 11353808 11353808 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020812.2 -1 validated p.D469 0.973 116 0% 48 39.6% 0 - - - - NULL EPOR 2057 genome.wustl.edu 37 19 11489212 11489212 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000121.3 -1 reviewed p.E325D 0.999 86 0% 47 21.3% 12 25% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ZNF653 115950 genome.wustl.edu 37 19 11598310 11598310 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138783.3 -1 validated p.A323V 0.997 83 0% 37 10.8% 3 66.6% possibly_damaging(0.677) deleterious(0) deleterious(0.685) NULL ECSIT 51295 genome.wustl.edu 37 19 11617211 11617211 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016581.3 -1 validated p.A362T 1.000 60 0% 20 25% 84 41.6% benign(0.036) tolerated(1) neutral(0.002) NULL ACP5 54 genome.wustl.edu 37 19 11687356 11687356 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001111034.1 -1 reviewed p.T146I 0.710 64 0% 31 32.3% 33 0% benign(0.142) deleterious(0.01) neutral(0.418) HMMPfam_Metallophos,superfamily_SSF56300 ACP5 54 genome.wustl.edu 37 19 11687972 11687972 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001111034.1 -1 reviewed p.I54T 0.998 41 0% 39 35.9% 29 0% possibly_damaging(0.486) tolerated(0.1) neutral(0.448) HMMPfam_Metallophos,superfamily_SSF56300 ZNF823 55552 genome.wustl.edu 37 19 11833581 11833581 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080493.2 -1 validated p.A256 0.949 365 0.3% 250 10% 9 22.2% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF700 90592 genome.wustl.edu 37 19 12061006 12061006 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144566.1 +1 provisional p.A723T 0.003 153 0% 94 41.5% 12 50% benign(0.003) tolerated(0.09) neutral(0.296) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF763 284390 genome.wustl.edu 37 19 12089257 12089257 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001012753.1 +1 validated p.A176V 0.000 520 0% 302 25.2% 1 100% benign(0) tolerated(0.21) neutral(0.044) HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF20 7568 genome.wustl.edu 37 19 12243471 12243471 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021143.2 -1 validated p.Q510H 0.070 710 0.1% 424 32.8% 14 42.8% benign(0.003) tolerated(0.1) neutral(0.286) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF44 51710 genome.wustl.edu 37 19 12383583 12383583 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016264.3 -1 validated p.R496M 0.000 169 0% 106 20.8% 6 0% probably_damaging(0.967) deleterious(0) deleterious(0.853) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF563 147837 genome.wustl.edu 37 19 12430265 12430265 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145276.2 -1 validated p.G192C 0.046 555 0.2% 340 28.2% 1 100% probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL ZNF442 79973 genome.wustl.edu 37 19 12474374 12474374 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030824.2 -1 validated p.K24 0.020 339 0% 217 26.7% 0 - - - - superfamily_Krueppel-associated_box ZNF799 90576 genome.wustl.edu 37 19 12502775 12502775 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080821.1 -1 validated p.R146H 0.000 711 0.1% 418 12.9% 2 0% possibly_damaging(0.709) tolerated(0.3) neutral(0.285) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF443 10224 genome.wustl.edu 37 19 12542598 12542598 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005815.4 -1 validated p.P130S 0.481 521 0.2% 313 29.7% 9 77.7% benign(0.012) tolerated(0.35) neutral(0.021) NULL ZNF709 163051 genome.wustl.edu 37 19 12576371 12576371 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152601.3 -1 validated p.R122K 0.000 209 0% 129 18.6% 1 0% benign(0) tolerated(0.15) neutral(0.241) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF564 163050 genome.wustl.edu 37 19 12637852 12637852 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144976.3 -1 validated p.R357M 0.135 479 0% 261 32.6% 9 22.2% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MAN2B1 4125 genome.wustl.edu 37 19 12763022 12763022 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000528.3 -1 reviewed p.P664H 1.000 213 0% 83 25.3% 60 23.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Gal_mut_like,HMMPfam_Glyco_hydro_38C HOOK2 29911 genome.wustl.edu 37 19 12883696 12883696 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013312.2 -1 validated p.L96I 0.371 281 0% 174 15.5% 19 10.5% possibly_damaging(0.492) tolerated(0.8) neutral(0.165) HMMPfam_HOOK RNASEH2A 10535 genome.wustl.edu 37 19 12924190 12924190 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006397.2 +1 reviewed p.S270 0.997 177 0% 111 27% 58 41.3% - - - NULL MAST1 22983 genome.wustl.edu 37 19 12962784 12962784 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014975.2 +1 validated p.V271I 0.975 39 0% 34 35.3% 2 50% benign(0.001) tolerated(0.82) neutral(0.001) HMMPfam_DUF1908 DNASE2 1777 genome.wustl.edu 37 19 12989291 12989291 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001375.2 -1 reviewed p.H205R 0.673 126 0% 82 22% 152 40.7% possibly_damaging(0.667) tolerated(0.84) neutral(0.236) HMMPfam_DNase_II FARSA 2193 genome.wustl.edu 37 19 13035619 13035619 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004461.2 -1 validated p.K343 0.996 98 0% 37 27% 151 40.3% - - - HMMPfam_tRNA-synt_2d,superfamily_Class II aaRS and biotin synthetases NACC1 112939 genome.wustl.edu 37 19 13248998 13248998 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052876.2 +1 validated p.S454 0.982 89 0% 52 38.5% 99 38.3% - - - HMMPfam_BEN STX10 8677 genome.wustl.edu 37 19 13255247 13255247 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003765.1 -1 provisional p.L243F 0.285 33 0.000 8 0.625 136 43.3% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL C19orf57 79173 genome.wustl.edu 37 19 14000312 14000312 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024323.3 -1 predicted p.G453C 0.000 64 0% 29 27.6% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL IL27RA 9466 genome.wustl.edu 37 19 14163090 14163090 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004843.2 +1 reviewed p.Q633H 0.000 25 0% 14 28.6% 17 35.2% probably_damaging(0.995) tolerated(0.09) deleterious(0.754) NULL PRKACA 5566 genome.wustl.edu 37 19 14208185 14208185 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002730.3 -1 reviewed p.I251 0.993 45 0% 29 41.4% 64 42.1% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PKN1 5585 genome.wustl.edu 37 19 14580617 14580617 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_213560.1 +1 reviewed p.I742T 0.997 252 0% 116 25.9% 63 15.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase EMR3 84658 genome.wustl.edu 37 19 14740966 14740966 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032571.3 -1 reviewed p.C566Y 0.013 184 0% 131 12.2% 0 - possibly_damaging(0.908) deleterious(0.03) deleterious(0.726) HMMPfam_7tm_2,superfamily_Family A G protein-coupled receptor-like ZNF333 84449 genome.wustl.edu 37 19 14829101 14829101 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032433.2 +1 validated p.S321I 0.000 735 0.1% 410 14.4% 3 33.3% benign(0.288) tolerated(0.41) neutral(0.103) NULL EMR2 30817 genome.wustl.edu 37 19 14863198 14863198 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013447.2 -1 reviewed p.L577 0.830 51 0% 34 38.2% 1 0% - - - HMMPfam_7tm_2 LOC100129118 100129118 genome.wustl.edu 37 19 14903322 14903322 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_001726779.2 +1 model p.A65S 1.000 283 0% 149 25.5% 0 - - - - NULL SLC1A6 6511 genome.wustl.edu 37 19 15083559 15083559 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005071.1 -1 provisional p.R55Q 0.998 51 0% 26 19.2% 0 - probably_damaging(0.991) tolerated(0.17) deleterious(0.503) NULL CCDC105 126402 genome.wustl.edu 37 19 15132512 15132512 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173482.2 +1 validated p.G376S 0.185 132 0% 51 43.1% 0 - probably_damaging(0.969) tolerated(0.07) deleterious(0.730) NULL CASP14 23581 genome.wustl.edu 37 19 15166067 15166067 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012114.1 +1 reviewed p.V168I 0.095 406 0% 256 25.4% 0 - benign(0.001) tolerated(1) - HMMPfam_Peptidase_C14,HMMSmart_SM00115,superfamily_Caspase-like AKAP8 10270 genome.wustl.edu 37 19 15487824 15487824 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005858.2 -1 reviewed p.G7 0.994 22 0% 11 45.5% 5 20% - - - NULL WIZ 58525 genome.wustl.edu 37 19 15538196 15538196 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021241.2 -1 validated p.T226 0.405 27 0% 11 45.5% 46 43.4% - - - NULL WIZ 58525 genome.wustl.edu 37 19 15558994 15558994 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021241.2 -1 validated p.G42D 0.999 70 0% 27 33.3% 0 - unknown(0) tolerated(1) - NULL CYP4F22 126410 genome.wustl.edu 37 19 15654833 15654833 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173483.3 +1 reviewed p.T331A 1.000 165 0.6% 116 24.1% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_p450,superfamily_Cytochrome_P450 LOC100287986 100287986 genome.wustl.edu 37 19 15686427 15686427 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002343618.1 -1 model p.L724I 0.000 41 0% 17 23.5% 0 - - - - NULL LOC100287986 100287986 genome.wustl.edu 37 19 15739212 15739212 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002343618.1 -1 model p.T37K 0.806 145 0% 76 23.7% 0 - benign(0) tolerated(0.43) neutral(0.013) NULL CYP4F12 66002 genome.wustl.edu 37 19 15795879 15795879 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_023944.2 +1 reviewed p.G329 0.983 253 0% 107 34.6% 1 0% - - - HMMPfam_p450,superfamily_Cytochrome P450 OR10H5 284433 genome.wustl.edu 37 19 15905068 15905068 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004466.1 +1 provisional p.E70D 0.987 518 0% 344 31.7% 0 - probably_damaging(0.987) tolerated(0.16) deleterious(0.496) HMMPfam_7tm_1,superfamily_SSF81321 CYP4F2 8529 genome.wustl.edu 37 19 16001168 16001168 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001082.3 -1 reviewed p.D201N 1.000 505 0.2% 261 26.8% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_p450,superfamily_Cytochrome_P450 EPS15L1 58513 genome.wustl.edu 37 19 16495985 16495985 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021235.1 -1 provisional p.S734 0.999 129 0% 55 32.7% 21 42.8% - - - NULL NWD1 284434 genome.wustl.edu 37 19 16918536 16918536 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001007525.2 +1 validated p.C1157 1.000 133 0% 65 18.5% 3 0% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like NWD1 284434 genome.wustl.edu 37 19 16918920 16918920 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001007525.2 +1 validated p.R1285 0.175 97 0% 50 28% 4 0% - - - superfamily_WD40 repeat-like SIN3B 23309 genome.wustl.edu 37 19 16973290 16973290 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015260.1 +1 provisional p.R396C 1.000 89 0% 50 40% 11 54.5% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_HDAC_interact,HMMSmart_SM00761 SIN3B 23309 genome.wustl.edu 37 19 16974595 16974595 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015260.1 +1 provisional p.D489 0.792 82 0% 42 21.4% 11 36.3% - - - HMMPfam_HDAC_interact,HMMSmart_SM00761 CPAMD8 27151 genome.wustl.edu 37 19 17056376 17056376 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015692.2 -1 validated p.R973C 0.987 127 0% 80 27.5% 0 - benign(0.08) tolerated(0.08) neutral(0.305) NULL HAUS8 93323 genome.wustl.edu 37 19 17160706 17160707 + Frame_Shift_Del DEL GA GA - novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033417.1 -1 validated p.R404fs 0.000:0.000 - - - - - - - - - NULL ANKLE1 126549 genome.wustl.edu 37 19 17394343 17394343 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152363.4 +1 validated p.A257V 0.000 69 1.4% 29 27.6% 5 40% benign(0.039) deleterious(0.01) neutral(0.408) NULL ABHD8 79575 genome.wustl.edu 37 19 17411871 17411871 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024527.4 -1 validated p.G185 0.275 71 0% 42 33.3% 22 31.8% - - - superfamily_alpha/beta-Hydrolases ANO8 57719 genome.wustl.edu 37 19 17441994 17441994 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020959.2 -1 validated p.I245T 1.000 102 0% 51 29.4% 13 38.4% possibly_damaging(0.814) deleterious(0.01) deleterious(0.713) NULL GTPBP3 84705 genome.wustl.edu 37 19 17449869 17449869 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133644.2 +1 validated p.P233H 0.000 90 0% 51 27.5% 0 - benign(0.001) deleterious(0) neutral(0.445) superfamily_SSF52540 PLVAP 83483 genome.wustl.edu 37 19 17476349 17476349 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031310.1 -1 provisional p.L309M 0.972 30 0% 25 24% 32 0% probably_damaging(0.99) tolerated(0.12) deleterious(0.702) HMMPfam_PV-1 PLVAP 83483 genome.wustl.edu 37 19 17476925 17476925 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031310.1 -1 provisional p.M150T 0.000 81 0% 43 16.3% 19 0% benign(0) tolerated(1) - HMMPfam_PV-1 UNC13A 23025 genome.wustl.edu 37 19 17751383 17751383 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080421.2 -1 validated p.Y996 0.982 6 0.000 12 0.583 0 - - - - NULL UNC13A 23025 genome.wustl.edu 37 19 17785552 17785552 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080421.2 -1 validated p.T110 0.155 188 0% 107 27.1% 0 - - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) MAP1S 55201 genome.wustl.edu 37 19 17835911 17835911 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018174.4 +1 validated p.G119 1.000 254 0% 126 27% 44 52.2% - - - NULL FCHO1 23149 genome.wustl.edu 37 19 17883492 17883492 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015122.2 +1 validated p.S244 1.000 65 0% 39 20.5% 2 0% - - - NULL B3GNT3 10331 genome.wustl.edu 37 19 17922396 17922396 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014256.3 +1 reviewed p.W195L 1.000 41 0% 31 38.7% 8 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Galactosyl_T JAK3 3718 genome.wustl.edu 37 19 17941372 17941372 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000215.3 -1 reviewed p.S1012R 1.000 31 0% 14 28.6% 8 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) JAK3 3718 genome.wustl.edu 37 19 17943411 17943411 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000215.3 -1 reviewed p.R866M 0.977 283 0% 146 28.8% 3 0% probably_damaging(0.993) deleterious(0.02) deleterious(0.833) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) IL12RB1 3594 genome.wustl.edu 37 19 18177481 18177481 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005535.1 -1 reviewed p.V452I 0.005 269 0% 132 31.8% 6 0% possibly_damaging(0.744) deleterious(0) deleterious(0.718) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III KIAA1683 80726 genome.wustl.edu 37 19 18377130 18377130 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001145304.1 -1 validated p.P407L 0.000 72 0% 33 15.2% 0 - unknown(0) deleterious(0.03) - NULL KIAA1683 80726 genome.wustl.edu 37 19 18377402 18377402 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001145304.1 -1 validated p.G316 0.001 110 0% 63 34.9% 0 - - - - NULL ISYNA1 51477 genome.wustl.edu 37 19 18546942 18546942 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016368.4 -1 validated p.A292V 0.994 27 0% 11 36.4% 13 23% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NAD_binding_5,superfamily_NAD(P)-binding Rossmann-fold domains ELL 8178 genome.wustl.edu 37 19 18572619 18572619 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006532.3 -1 validated p.D171 0.001 66 0% 34 20.6% 15 26.6% - - - HMMPfam_ELL FKBP8 23770 genome.wustl.edu 37 19 18650229 18650229 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012181.3 -1 reviewed p.T168M 0.998 89 0% 42 35.7% 272 34.9% possibly_damaging(0.924) tolerated(0.07) deleterious(0.692) HMMPfam_FKBP_C,superfamily_SSF54534 UPF1 5976 genome.wustl.edu 37 19 18963850 18963850 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002911.3 +1 reviewed p.A343T 1.000 143 0% 69 13% 52 19.2% probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL UPF1 5976 genome.wustl.edu 37 19 18974273 18974273 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002911.3 +1 reviewed p.P876L 0.999 154 0.6% 60 23.3% 82 43.9% probably_damaging(0.969) deleterious(0) deleterious(0.856) superfamily_SSF52540 SUGP2 10147 genome.wustl.edu 37 19 19120964 19120964 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001017392.3 -1 reviewed p.R680W 0.979 150 0% 69 33.3% 28 42.8% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL NCAN 1463 genome.wustl.edu 37 19 19356196 19356196 + Silent SNP G G A rs149217870 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004386.2 +1 validated p.A1189 0.002 83 0% 56 16.1% 0 - - - - HMMPfam_Lectin_C,HMMSmart_CLECT,superfamily_C-type_lectin_fold,PatternScan_C_TYPE_LECTIN_1 PBX4 80714 genome.wustl.edu 37 19 19710156 19710156 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025245.1 -1 reviewed p.C46 1.000 62 0% 43 27.9% 0 - - - - HMMPfam_PBC LPAR2 9170 genome.wustl.edu 37 19 19738063 19738063 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004720.5 -1 reviewed p.E11K 0.999 80 0% 41 24.4% 27 44.4% benign(0.009) tolerated(0.2) neutral(0.050) superfamily_SSF81321 GMIP 51291 genome.wustl.edu 37 19 19746268 19746268 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016573.2 -1 reviewed p.R506C 0.991 75 0% 38 26.3% 28 39.2% possibly_damaging(0.921) deleterious(0) deleterious(0.816) HMMPfam_C1_1,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,superfamily_SSF57889 ZNF101 94039 genome.wustl.edu 37 19 19788768 19788768 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033204.2 +1 provisional p.T33 0.438 243 0% 147 27.2% 5 40% - - - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF101 94039 genome.wustl.edu 37 19 19789991 19789991 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033204.2 +1 provisional p.S65R 0.999 275 0% 135 25.9% 5 60% benign(0.009) tolerated(0.53) neutral(0.008) NULL ZNF101 94039 genome.wustl.edu 37 19 19790285 19790285 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033204.2 +1 provisional p.P163S 0.979 358 0% 177 21.5% 9 33.3% benign(0.082) deleterious(0.01) neutral(0.412) NULL ENSG00000245381 0 genome.wustl.edu 37 19 20003568 20003568 + RNA SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000499171 -1 known NULL 1.000 239 0% 157 15.9% 0 - - - - - ZNF486 90649 genome.wustl.edu 37 19 20308335 20308335 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052852.2 +1 provisional p.G272 0.845 256 0% 172 32.6% 2 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ENSG00000250063 0 genome.wustl.edu 37 19 20368478 20368478 + RNA SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000512225 -1 novel NULL 0.007 43 0% 19 26.3% 0 - - - - - ZNF737 100129842 genome.wustl.edu 37 19 20736528 20736528 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002343624.1 -1 model p.N39 0.982 451 0% 322 27% 4 0% - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF626 199777 genome.wustl.edu 37 19 20807152 20807152 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001076675.2 -1 validated p.V511M 0.398 277 0.4% 237 30.4% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ZNF626 199777 genome.wustl.edu 37 19 20807319 20807319 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001076675.2 -1 validated p.C455Y 0.769 136 0% 79 24.1% 0 - probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF430 80264 genome.wustl.edu 37 19 21216970 21216970 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025189.3 +1 validated p.A101V 0.001 538 0% 334 27.5% 2 50% benign(0.045) tolerated(0.25) neutral(0.040) NULL ZNF430 80264 genome.wustl.edu 37 19 21239469 21239469 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025189.3 +1 validated p.P119S 0.003 271 0.4% 167 10.8% 0 - benign(0.31) tolerated(0.2) neutral(0.146) NULL ZNF431 170959 genome.wustl.edu 37 19 21349168 21349168 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133473.2 +1 validated p.E43* 0.645 504 0% 343 24.8% 5 0% - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF708 7562 genome.wustl.edu 37 19 21476780 21476780 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021269.2 -1 validated p.H330Y 0.989 606 0% 415 28.2% 2 0% probably_damaging(0.975) deleterious(0) deleterious(0.861) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC400682 400682 genome.wustl.edu 37 19 21838598 21838598 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_001726878.1 +1 model p.G108D 0.973 260 0% 148 26.4% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC400682 400682 genome.wustl.edu 37 19 21838727 21838727 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_001726878.1 +1 model p.S151N 0.003 173 0% 122 12.3% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF100 163227 genome.wustl.edu 37 19 21948578 21948578 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173531.3 -1 validated p.R5M 0.012 185 0.5% 102 19.6% 6 0% possibly_damaging(0.496) deleterious(0.01) deleterious(0.571) NULL ZNF43 7594 genome.wustl.edu 37 19 21992555 21992555 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003423.2 -1 validated p.P95H 0.004 361 0% 218 14.2% 9 11.1% benign(0.014) tolerated(0.44) neutral(0.013) NULL ZNF208 7757 genome.wustl.edu 37 19 22154713 22154713 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007153.3 -1 provisional p.P913 0.000 611 0% 451 24.6% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF208 7757 genome.wustl.edu 37 19 22156777 22156777 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007153.3 -1 provisional p.F353 0.000 554 0% 412 16.7% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF208 7757 genome.wustl.edu 37 19 22157048 22157048 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007153.3 -1 provisional p.G263D 0.997 432 0.5% 336 26.8% 0 - probably_damaging(1) tolerated(0.18) deleterious(0.556) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF208 7757 genome.wustl.edu 37 19 22157323 22157323 + Frame_Shift_Del DEL T T - novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007153.3 -1 provisional p.K171fs 0.025 - - - - - - - - - NULL ZNF257 113835 genome.wustl.edu 37 19 22271877 22271877 + Missense_Mutation SNP G G A rs189763118 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033468.2 +1 provisional p.R442Q 0.000 271 0.7% 225 26.7% 0 - benign(0.007) tolerated(0.32) neutral(0.024) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF729 100287226 genome.wustl.edu 37 19 22496477 22496477 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000357491 +1 known p.M86I 0.000 69 0% 64 26.6% 0 - benign(0.002) tolerated(0.67) neutral(0.003) NULL LOC100287226 100287226 genome.wustl.edu 37 19 22497963 22497963 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002343636.1 +1 model p.K449E 0.137 451 0% 354 30.8% 0 - possibly_damaging(0.478) tolerated(0.11) neutral(0.429) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF98 148198 genome.wustl.edu 37 19 22575196 22575196 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098626.1 -1 validated p.L281I 0.020 427 0.2% 334 6.3% 0 - probably_damaging(0.997) deleterious(0.03) deleterious(0.831) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC440518 440518 genome.wustl.edu 37 19 22780094 22780094 + RNA SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XR_041921.2 +1 model NULL 0.061 144 0% 81 13.6% 0 - - - - - ZNF492 57615 genome.wustl.edu 37 19 22846953 22846953 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020855.2 +1 validated p.R161K 0.902 220 0% 144 27.1% 1 100% benign(0) tolerated(0.48) neutral(0.011) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF492 57615 genome.wustl.edu 37 19 22847354 22847354 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020855.2 +1 validated p.T295P 0.000 465 0.2% 354 16.9% 3 33.3% benign(0.157) tolerated(0.28) neutral(0.045) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF99 7652 genome.wustl.edu 37 19 22939158 22939158 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080409.1 -1 provisional p.G987D 0.725 499 0% 331 24.5% 0 - benign(0.05) tolerated(0.1) neutral(0.289) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF99 7652 genome.wustl.edu 37 19 22939428 22939428 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080409.1 -1 provisional p.P915S 0.685 477 0% 326 30.1% 0 - benign(0.045) deleterious(0.01) neutral(0.408) superfamily_SSF57667 ZNF99 7652 genome.wustl.edu 37 19 22940308 22940308 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080409.1 -1 provisional p.S710 0.000 470 0% 351 31.1% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF728 388523 genome.wustl.edu 37 19 23171182 23171182 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_001726961.1 -1 model p.Q25H 0.058 689 0% 467 15.4% 0 - - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF724P 440519 genome.wustl.edu 37 19 23406665 23406665 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000418100 -1 known p.G128* 0.078 148 0% 121 22.3% 3 66.6% - - - NULL ZNF91 7644 genome.wustl.edu 37 19 23543224 23543224 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003430.2 -1 validated p.L853I 0.889 357 0% 240 26.7% 10 10% benign(0.205) deleterious(0.04) neutral(0.369) superfamily_C2H2 and C2HC zinc fingers ZNF675 171392 genome.wustl.edu 37 19 23836427 23836427 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138330.2 -1 validated p.S436 0.022 392 0% 242 15.7% 19 31.5% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF681 148213 genome.wustl.edu 37 19 23927240 23927240 + Missense_Mutation SNP C C T rs146668980 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138286.2 -1 validated p.C371Y 1.000 513 0% 364 29.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers POP4 10775 genome.wustl.edu 37 19 30106170 30106170 + Nonsense_Mutation SNP C C A rs184488449 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006627.2 +1 reviewed p.C182* 0.995 67 0% 35 22.9% 62 37% - - - HMMPfam_UPF0086,HMMSmart_SM00538,superfamily_RNase P subunit p29-like CCNE1 898 genome.wustl.edu 37 19 30314647 30314647 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001238.1 +1 reviewed p.S399I 1.000 125 0% 50 24% 22 59% probably_damaging(1) deleterious(0) deleterious(0.945) NULL URI1 8725 genome.wustl.edu 37 19 30500155 30500155 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003796.2 +1 reviewed p.D310 0.001 121 0.8% 60 31.7% 67 47.7% - - - NULL ZNF536 9745 genome.wustl.edu 37 19 31040341 31040341 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014717.1 +1 provisional p.S1272N 1.000 89 0% 42 26.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TSHZ3 57616 genome.wustl.edu 37 19 31768873 31768873 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020856.2 -1 validated p.A609V 1.000 201 0% 103 10.7% 1 0% probably_damaging(0.955) deleterious(0.01) deleterious(0.804) NULL TSHZ3 57616 genome.wustl.edu 37 19 31769292 31769292 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020856.2 -1 validated p.E469D 1.000 420 0% 205 29.3% 2 0% possibly_damaging(0.882) tolerated(0.25) neutral(0.381) NULL TSHZ3 57616 genome.wustl.edu 37 19 31770554 31770554 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020856.2 -1 validated p.E49* 1.000 118 0% 75 25.3% 1 0% - - - NULL ZNF507 22847 genome.wustl.edu 37 19 32844077 32844077 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001136156.1 +1 validated p.T114N 0.082 222 0% 114 29.8% 11 45.4% benign(0.002) tolerated(0.12) neutral(0.261) NULL ZNF507 22847 genome.wustl.edu 37 19 32845599 32845599 + Silent SNP C C T rs139741881 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001136156.1 +1 validated p.S621 0.000 243 0% 119 26.9% 12 66.6% - - - NULL CEP89 84902 genome.wustl.edu 37 19 33392244 33392244 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032816.3 -1 validated p.A547V 0.259 376 0% 279 26.9% 14 57.1% benign(0) tolerated(0.56) neutral(0.006) NULL RHPN2 85415 genome.wustl.edu 37 19 33498966 33498966 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033103.4 -1 reviewed p.T238 0.000 91 0% 54 40.7% 30 36.6% - - - HMMPfam_BRO1 GPATCH1 55094 genome.wustl.edu 37 19 33608861 33608861 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018025.2 +1 provisional p.S776I 0.996 72 0% 32 21.9% 12 58.3% benign(0.344) deleterious(0.02) deleterious(0.491) NULL PEPD 5184 genome.wustl.edu 37 19 34003534 34003534 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000285.3 -1 reviewed p.R56C 1.000 50 0% 20 25% 44 25% probably_damaging(1) tolerated(0.12) deleterious(0.760) HMMPfam_AMP_N,superfamily_SSF53092 LSM14A 26065 genome.wustl.edu 37 19 34710328 34710328 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001114093.1 +1 validated p.R272C 1.000 246 0% 150 26.7% 35 8.5% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL KIAA0355 9710 genome.wustl.edu 37 19 34818325 34818325 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014686.3 +1 validated e3-1 1.000 188 0% 92 29.3% 1 100% - - - - KIAA0355 9710 genome.wustl.edu 37 19 34838930 34838930 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014686.3 +1 validated p.P890 0.173 46 0% 16 25% 9 33.3% - - - NULL ZNF181 339318 genome.wustl.edu 37 19 35232244 35232244 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001029997.3 +1 validated p.P320S 1.000 187 0% 109 29.4% 7 71.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00614,superfamily_C2H2 and C2HC zinc fingers ZNF181 339318 genome.wustl.edu 37 19 35232749 35232749 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001029997.3 +1 validated p.P488H 0.996 147 0% 104 32.7% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00614,superfamily_C2H2 and C2HC zinc fingers ZNF599 148103 genome.wustl.edu 37 19 35250727 35250727 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001007248.2 -1 validated p.A327T 0.000 189 0.5% 91 29.7% 0 - benign(0) tolerated(0.63) neutral(0.004) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF792 126375 genome.wustl.edu 37 19 35451825 35451825 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175872.4 -1 validated p.R36K 0.990 547 0.2% 271 28% 1 0% probably_damaging(0.999) tolerated(0.11) deleterious(0.762) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) SCN1B 6324 genome.wustl.edu 37 19 35524673 35524673 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_199037.3 +1 reviewed p.V160I 0.011 139 0% 50 30% 0 - unknown(0) deleterious(0) - NULL LSR 51599 genome.wustl.edu 37 19 35749873 35749873 + Silent SNP G G A rs186050633 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_205834.2 +1 validated p.T208 0.078 94 0% 54 29.6% 203 40.8% - - - HMMSmart_SM00409,superfamily_Immunoglobulin CD22 933 genome.wustl.edu 37 19 35827244 35827244 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001771.3 +1 validated p.H240Y 0.997 126 0% 63 33.3% 0 - benign(0.084) tolerated(1) neutral(0.006) superfamily_Immunoglobulin CD22 933 genome.wustl.edu 37 19 35832837 35832837 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001771.3 +1 validated p.G668 0.000 377 0.3% 191 27.2% 3 0% - - - HMMSmart_SM00409,superfamily_Immunoglobulin ATP4A 495 genome.wustl.edu 37 19 36046418 36046418 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000704.2 -1 reviewed p.R694H 0.953 83 0% 34 29.4% 0 - benign(0.408) tolerated(0.32) neutral(0.156) HMMPfam_Hydrolase,superfamily_SSF56784,superfamily_SSF81665 HAUS5 23354 genome.wustl.edu 37 19 36109581 36109581 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015302.1 +1 validated p.R332 0.000 104 0% 52 26.9% 11 54.5% - - - NULL RBM42 79171 genome.wustl.edu 37 19 36128233 36128233 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024321.3 +1 provisional p.R437C 0.987 78 0% 42 26.2% 101 40.5% unknown(0) deleterious(0) - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD MLL4 9757 genome.wustl.edu 37 19 36220140 36220140 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014727.1 +1 reviewed p.E1620D 1.000 28 0% 14 28.6% 27 37% possibly_damaging(0.45) - - NULL MLL4 9757 genome.wustl.edu 37 19 36229396 36229396 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014727.1 +1 reviewed p.D2696Y 1.000 39 2.6% 26 34.6% 64 42.1% probably_damaging(0.997) - - HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain ARHGAP33 115703 genome.wustl.edu 37 19 36271894 36271894 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052948.3 +1 reviewed p.R301L 1.000 91 0% 36 19.4% 11 45.4% probably_damaging(0.993) deleterious(0.02) deleterious(0.833) NULL PRODH2 58510 genome.wustl.edu 37 19 36303395 36303395 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021232.1 -1 reviewed p.V156I 0.000 118 0% 65 32.3% 0 - benign(0.002) tolerated(0.54) neutral(0.007) HMMPfam_Pro_dh PRODH2 58510 genome.wustl.edu 37 19 36303435 36303435 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021232.1 -1 reviewed p.L142 1.000 71 0% 51 27.5% 0 - - - - HMMPfam_Pro_dh NPHS1 4868 genome.wustl.edu 37 19 36339287 36339287 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004646.3 -1 reviewed p.G395S 1.000 86 0% 56 25% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00409,HMMPfam_C2-set_2,superfamily_Immunoglobulin APLP1 333 genome.wustl.edu 37 19 36365493 36365493 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001024807.1 +1 reviewed p.A382T 1.000 182 0% 65 30.8% 0 - possibly_damaging(0.769) tolerated(0.06) deleterious(0.608) superfamily_CAPPD an extracellular domain of amyloid beta A4 protein APLP1 333 genome.wustl.edu 37 19 36365528 36365528 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001024807.1 +1 reviewed p.E393D 1.000 120 0.8% 47 27.7% 2 0% benign(0.118) deleterious(0.01) neutral(0.415) superfamily_CAPPD an extracellular domain of amyloid beta A4 protein CLIP3 25999 genome.wustl.edu 37 19 36510152 36510152 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015526.1 -1 provisional p.G325 1.000 65 0% 41 9.8% 11 18.1% - - - HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1,superfamily_Cap-Gly domain WDR62 284403 genome.wustl.edu 37 19 36564345 36564345 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001083961.1 +1 validated p.S382I 1.000 302 0.3% 167 23.4% 9 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00320,superfamily_WD40 repeat-like WDR62 284403 genome.wustl.edu 37 19 36573976 36573976 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001083961.1 +1 validated p.K461N 1.000 35 0% 16 31.2% 5 40% possibly_damaging(0.868) tolerated(0.06) deleterious(0.659) superfamily_WD40 repeat-like WDR62 284403 genome.wustl.edu 37 19 36579993 36579993 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001083961.1 +1 validated p.R608C 1.000 36 0% 25 44% 5 40% possibly_damaging(0.785) deleterious(0) deleterious(0.738) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 TBCB 1155 genome.wustl.edu 37 19 36607067 36607067 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001281.2 +1 validated p.D80G 1.000 110 0% 68 17.6% 88 6.8% probably_damaging(0.999) tolerated(0.12) deleterious(0.751) superfamily_SSF54236 TBCB 1155 genome.wustl.edu 37 19 36611654 36611654 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001281.2 +1 validated p.V101M 0.924 67 0% 25 36% 109 35.7% benign(0.003) tolerated(0.18) neutral(0.056) NULL CAPNS1 826 genome.wustl.edu 37 19 36636879 36636879 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001003962.1 +1 reviewed p.A176D 0.992 446 0.4% 228 29.8% 1060 38.8% benign(0.214) tolerated(0.35) neutral(0.042) HMMSmart_EFh,superfamily_SSF47473 ZNF565 147929 genome.wustl.edu 37 19 36685204 36685204 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001042474.1 -1 validated p.V55I 0.988 83 0% 37 16.2% 4 25% benign(0) tolerated(1) - HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF146 7705 genome.wustl.edu 37 19 36727701 36727701 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001099638.1 +1 validated p.R120I 1.000 264 0% 145 21.4% 99 48.4% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZFP14 57677 genome.wustl.edu 37 19 36831768 36831768 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020917.1 -1 provisional p.A320 0.932 459 0% 258 27.1% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF260 339324 genome.wustl.edu 37 19 37005066 37005066 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001012756.2 -1 validated p.P359T 0.999 330 0% 178 30.9% 16 37.5% possibly_damaging(0.521) deleterious(0.01) deleterious(0.581) superfamily_SSF57667 ZNF529 57711 genome.wustl.edu 37 19 37037834 37037834 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001145649.1 -1 validated p.S542 0.122 385 0% 248 31.5% 10 30% - - - superfamily_C2H2 and C2HC zinc fingers ZNF529 57711 genome.wustl.edu 37 19 37037883 37037883 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001145649.1 -1 validated p.R526H 0.953 317 0.3% 216 27.3% 13 61.5% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF382 84911 genome.wustl.edu 37 19 37100946 37100946 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032825.3 +1 validated p.V44I 0.005 244 0.4% 167 33.5% 1 0% benign(0) tolerated(0.21) neutral(0.044) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF382 84911 genome.wustl.edu 37 19 37118250 37118250 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032825.3 +1 validated p.R484K 1.000 295 0% 201 29.4% 3 66.6% benign(0.317) tolerated(0.21) neutral(0.143) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF461 92283 genome.wustl.edu 37 19 37129781 37129781 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153257.2 -1 validated p.R489I 0.275 384 0% 192 30.2% 4 50% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF790 388536 genome.wustl.edu 37 19 37310005 37310005 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_206894.2 -1 validated p.R414Q 0.002 292 0% 179 32.4% 1 0% possibly_damaging(0.872) tolerated(0.05) deleterious(0.684) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF829 374899 genome.wustl.edu 37 19 37382662 37382662 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001037232.3 -1 validated p.R344I 1.000 341 0% 216 16.2% 0 - probably_damaging(0.996) deleterious(0.05) deleterious(0.807) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF420 147923 genome.wustl.edu 37 19 37581953 37581953 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144689.3 +1 provisional p.C22 0.273 303 0% 163 30.1% 14 50% - - - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF420 147923 genome.wustl.edu 37 19 37618409 37618409 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144689.3 +1 provisional p.C172 1.000 289 0% 171 36.3% 7 28.5% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF585A 199704 genome.wustl.edu 37 19 37642612 37642612 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152655.2 -1 validated p.R675M 0.000 621 0% 358 31.3% 2 50% probably_damaging(0.992) tolerated(0.2) deleterious(0.496) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF585B 92285 genome.wustl.edu 37 19 37676327 37676327 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152279.3 -1 validated p.Q704H 0.009 579 0% 338 12.1% 6 0% benign(0.001) tolerated(0.68) neutral(0.002) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF585B 92285 genome.wustl.edu 37 19 37677281 37677281 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152279.3 -1 validated p.D386E 0.001 543 0.2% 333 28.8% 4 75% possibly_damaging(0.653) tolerated(1) neutral(0.230) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF585B 92285 genome.wustl.edu 37 19 37680939 37680939 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152279.3 -1 validated p.H62 0.969 354 0% 192 22.9% 0 - - - - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box HKR1 284459 genome.wustl.edu 37 19 37853811 37853811 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181786.2 +1 provisional p.L372I 0.688 216 0% 126 12.7% 16 18.7% probably_damaging(0.96) deleterious(0.01) deleterious(0.808) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF527 84503 genome.wustl.edu 37 19 37871271 37871271 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032453.1 +1 validated p.A85T 0.238 212 0% 123 26% 3 66.6% possibly_damaging(0.915) tolerated(0.58) neutral(0.371) NULL ZNF569 148266 genome.wustl.edu 37 19 37904940 37904940 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152484.2 -1 validated p.I207S 1.000 234 0% 176 29.5% 5 40% benign(0.002) tolerated(0.07) neutral(0.319) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF793 390927 genome.wustl.edu 37 19 38028556 38028556 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001013659.2 +1 validated p.M332I 0.557 143 0% 69 30.4% 8 75% benign(0) tolerated(0.39) neutral(0.016) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF571 51276 genome.wustl.edu 37 19 38055681 38055681 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016536.3 -1 validated p.R550I 0.748 556 0.4% 352 14.5% 5 20% possibly_damaging(0.943) tolerated(0.12) deleterious(0.648) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF540 163255 genome.wustl.edu 37 19 38103831 38103831 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152606.3 +1 validated p.P550 0.464 456 0.2% 250 28.8% 0 - - - - superfamily_C2H2 and C2HC zinc fingers ZNF607 84775 genome.wustl.edu 37 19 38189308 38189308 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032689.4 -1 validated p.S575I 0.000 212 0% 102 24.5% 10 50% benign(0.113) tolerated(0.39) neutral(0.025) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF573 126231 genome.wustl.edu 37 19 38230869 38230869 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152360.3 -1 validated p.G116 0.000 609 0.2% 412 13.1% 2 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 PPP1R14A 94274 genome.wustl.edu 37 19 38742953 38742953 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033256.1 -1 provisional p.P103H 0.790 112 0% 54 13% 27 3.7% benign(0.273) deleterious(0.01) neutral(0.435) HMMPfam_PP1_inhibitor,superfamily_Myosin phosphatase inhibitor 17kDa protein CPI-17 RYR1 6261 genome.wustl.edu 37 19 38948797 38948797 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000540.2 +1 reviewed p.A678T 0.997 426 0% 237 26.2% 0 - benign(0.425) - - HMMPfam_SPRY,HMMSmart_SM00449 RYR1 6261 genome.wustl.edu 37 19 38964033 38964033 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000540.2 +1 reviewed p.G1261D 1.000 98 1% 59 18.6% 0 - probably_damaging(1) - - NULL RYR1 6261 genome.wustl.edu 37 19 38979967 38979967 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000540.2 +1 reviewed p.A1900S 0.617 159 0% 90 30% 0 - benign(0.02) - - NULL RYR1 6261 genome.wustl.edu 37 19 39005675 39005675 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000540.2 +1 reviewed p.V3161A 1.000 55 0% 29 37.9% 0 - possibly_damaging(0.865) - - NULL HNRNPL 3191 genome.wustl.edu 37 19 39327370 39327370 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001533.2 -1 reviewed p.A588T 1.000 573 0% 292 21.2% 452 77.8% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL RINL 126432 genome.wustl.edu 37 19 39360299 39360299 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198445.2 -1 provisional p.L349R 1.000 38 0% 21 28.6% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_VPS9,superfamily_SSF109993 SIRT2 22933 genome.wustl.edu 37 19 39379771 39379771 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012237.2 -1 reviewed p.R153C 1.000 69 1.4% 44 22.7% 53 41.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SIR2,superfamily_DHS-like NAD/FAD-binding domain SAMD4B 55095 genome.wustl.edu 37 19 39866447 39866447 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018028.2 +1 provisional p.S275 1.000 637 0% 315 26.7% 51 41.1% - - - NULL SUPT5H 6829 genome.wustl.edu 37 19 39957363 39957363 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001111020.2 +1 validated p.L339M 1.000 220 0% 121 23.1% 62 41.9% benign(0.123) tolerated(0.06) neutral(0.333) NULL DYRK1B 9149 genome.wustl.edu 37 19 40318964 40318964 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004714.1 -1 reviewed p.F260 0.742 101 0% 35 31.4% 25 36% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase FBL 2091 genome.wustl.edu 37 19 40331262 40331262 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001436.3 -1 reviewed p.R59I 0.000 325 0% 206 28.6% 20 25% unknown(0) deleterious(0) - NULL FCGBP 8857 genome.wustl.edu 37 19 40377123 40377123 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003890.2 -1 validated p.R3767C 0.398 82 1.2% 48 27.1% 3 0% unknown(0) tolerated(0.08) - HMMPfam_VWD,HMMSmart_VWD FCGBP 8857 genome.wustl.edu 37 19 40419710 40419710 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003890.2 -1 validated p.R1095H 0.003 223 0% 134 13.4% 0 - benign(0.216) tolerated(0.59) neutral(0.026) HMMPfam_C8 FCGBP 8857 genome.wustl.edu 37 19 40424046 40424046 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003890.2 -1 validated p.S719 0.001 72 1.4% 59 23.7% 0 - - - - HMMPfam_C8 FCGBP 8857 genome.wustl.edu 37 19 40424379 40424379 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003890.2 -1 validated p.C608 0.983 80 0% 49 20.4% 0 - - - - HMMPfam_VWD,HMMSmart_VWD FCGBP 8857 genome.wustl.edu 37 19 40433308 40433308 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003890.2 -1 validated p.G321C 0.097 175 1.1% 83 30.1% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ZNF780B 163131 genome.wustl.edu 37 19 40540811 40540811 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005851.2 -1 validated p.R652H 0.001 891 0.1% 584 28.6% 0 - probably_damaging(0.984) tolerated(0.54) neutral(0.438) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF780B 163131 genome.wustl.edu 37 19 40541800 40541800 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005851.2 -1 validated p.E322 0.020 585 0.3% 307 14.7% 3 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF780A 284323 genome.wustl.edu 37 19 40580852 40580852 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142577.1 -1 validated p.K500N 0.977 624 0% 374 12.3% 2 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) superfamily_C2H2 and C2HC zinc fingers MAP3K10 4294 genome.wustl.edu 37 19 40698582 40698582 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002446.3 +1 reviewed p.P215H 0.997 32 0% 23 30.4% 7 28.5% probably_damaging(0.995) tolerated(0.08) deleterious(0.758) superfamily_Kinase_like,HMMPfam_Pkinase AKT2 208 genome.wustl.edu 37 19 40747910 40747910 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001626.3 -1 reviewed p.R170W 1.000 35 0% 20 40% 66 45.4% probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMSmart_S_TKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase PRX 57716 genome.wustl.edu 37 19 40904491 40904491 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020956.2 -1 reviewed p.C139 0.074 30 0% 23 26.1% 0 - - - - NULL PRX 57716 genome.wustl.edu 37 19 40904650 40904650 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181882.2 -1 reviewed p.C86 0.806 70 0% 32 28.1% 1 0% - - - HMMSmart_SM00228,superfamily_PDZ domain-like SERTAD1 29950 genome.wustl.edu 37 19 40929401 40929401 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013376.3 -1 validated p.P18H 0.160 84 0% 51 11.8% 22 13.6% benign(0) tolerated(0.12) neutral(0.261) NULL LTBP4 8425 genome.wustl.edu 37 19 41117217 41117217 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000308370 +1 known p.G724D 1.000 26 0% 10 40% 22 13.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_EGF_CA,superfamily_Grow_fac_recept,HMMPfam_EGF_CA,PatternScan_EGF_CA ADCK4 79934 genome.wustl.edu 37 19 41209498 41209498 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024876.3 -1 validated p.S249 0.372 40 0% 23 26.1% 22 36.3% - - - HMMPfam_ABC1,superfamily_Protein kinase-like (PK-like) MIA 8190 genome.wustl.edu 37 19 41282908 41282908 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006533.2 +1 validated p.R99H 1.000 55 0% 32 31.2% 0 - benign(0.003) tolerated(0.41) neutral(0.015) HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_SH3_2 RAB4B 53916 genome.wustl.edu 37 19 41292604 41292604 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000378307 +1 known p.R104* 0.239 133 0% 69 24.6% 39 17.9% - - - NULL RAB4B 53916 genome.wustl.edu 37 19 41292640 41292640 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000378307 +1 known p.H116Y 0.980 128 0% 55 29.1% 34 17.6% unknown(0) - - NULL CYP2A13 1553 genome.wustl.edu 37 19 41601689 41601689 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000766.3 +1 reviewed p.G443D 0.138 165 0% 73 20.5% 0 - possibly_damaging(0.944) deleterious(0) deleterious(0.833) HMMPfam_p450,superfamily_Cytochrome_P450 CYP2S1 29785 genome.wustl.edu 37 19 41700485 41700485 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030622.6 +1 reviewed p.L72M 0.999 236 0% 120 27.5% 0 - probably_damaging(0.997) tolerated(0.08) deleterious(0.766) HMMPfam_p450,superfamily_Cytochrome P450 AXL 558 genome.wustl.edu 37 19 41726666 41726666 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021913.3 +1 reviewed p.R71W 1.000 66 0% 43 11.6% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin HNRNPUL1 11100 genome.wustl.edu 37 19 41787069 41787069 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007040.3 +1 reviewed p.G296 0.154 129 0% 74 25.7% 115 38.2% - - - HMMPfam_SPRY,HMMSmart_SM00449 HNRNPUL1 11100 genome.wustl.edu 37 19 41800542 41800542 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007040.3 +1 reviewed p.R490H 1.000 92 0% 50 12% 165 22.4% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_P-loop containing nucleoside triphosphate hydrolases CEACAM4 1089 genome.wustl.edu 37 19 42128110 42128110 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001817.2 -1 validated p.A152 0.003 103 0% 41 12.2% 1 0% - - - NULL LYPD4 147719 genome.wustl.edu 37 19 42341229 42341229 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173506.4 -1 validated p.A243 0.205 305 0% 192 25.5% 0 - - - - NULL ARHGEF1 9138 genome.wustl.edu 37 19 42396676 42396676 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_199002.1 +1 reviewed p.R139C 1.000 71 0% 39 28.2% 37 37.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RGS-like,superfamily_Regulat_G_prot_signal_superfam ATP1A3 478 genome.wustl.edu 37 19 42471871 42471871 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152296.3 -1 reviewed p.A955D 1.000 63 0% 25 16% 1 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Cation_ATPase_C,superfamily_SSF81665 GRIK5 2901 genome.wustl.edu 37 19 42510004 42510004 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002088.3 -1 reviewed p.V712I 1.000 42 0% 14 28.6% 2 0% benign(0.154) deleterious(0) neutral(0.458) HMMPfam_Lig_chan,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II GRIK5 2901 genome.wustl.edu 37 19 42525546 42525546 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002088.3 -1 reviewed p.G593D 1.000 61 0% 22 31.8% 0 - probably_damaging(1) tolerated(0.28) deleterious(0.531) HMMPfam_Lig_chan,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II GRIK5 2901 genome.wustl.edu 37 19 42563648 42563648 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002088.3 -1 reviewed p.G180 1.000 204 0% 127 37% 1 0% - - - HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I ZNF526 116115 genome.wustl.edu 37 19 42729173 42729173 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133444.1 +1 provisional p.C206 0.230 399 0% 206 31.6% 12 25% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CIC 23152 genome.wustl.edu 37 19 42794725 42794725 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015125.3 +1 validated p.R602I 1.000 116 0% 51 21.6% 28 39.2% possibly_damaging(0.55) deleterious(0) deleterious(0.631) NULL TMEM145 284339 genome.wustl.edu 37 19 42819144 42819144 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173633.2 +1 validated e6-1 1.000 159 0% 49 30.6% 0 - - - - - MEGF8 1954 genome.wustl.edu 37 19 42841260 42841260 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001410.2 +1 validated p.Q472R 1.000 95 0% 36 36.1% 5 0% benign(0.261) tolerated(0.25) neutral(0.064) HMMPfam_Kelch_1,superfamily_Gal_oxid_central MEGF8 1954 genome.wustl.edu 37 19 42853723 42853723 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001410.2 +1 validated p.L724I 1.000 44 0% 14 28.6% 3 100% probably_damaging(0.995) tolerated(0.26) deleterious(0.492) NULL LIPE 3991 genome.wustl.edu 37 19 42912195 42912195 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005357.2 -1 reviewed p.I530S 1.000 195 0.5% 93 12.9% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_HSL_N CEACAM1 634 genome.wustl.edu 37 19 43023193 43023193 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001712.4 -1 reviewed p.P385T 0.000 236 0% 129 33.3% 34 52.9% benign(0.145) tolerated(0.13) neutral(0.265) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin PSG3 5671 genome.wustl.edu 37 19 43243083 43243083 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021016.3 -1 validated p.L75I 0.000 2472 0.2% 1408 27.5% 0 - benign(0.005) tolerated(0.47) neutral(0.011) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 PSG2 5670 genome.wustl.edu 37 19 43576006 43576006 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031246.2 -1 validated p.Q270H 0.072 838 0% 467 13.9% 0 - benign(0.332) tolerated(0.09) neutral(0.400) HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 PSG9 5678 genome.wustl.edu 37 19 43762339 43762339 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000244293 -1 known p.A327T 0.001 689 0.3% 453 27.6% 0 - possibly_damaging(0.753) deleterious(0.01) deleterious(0.682) NULL PHLDB3 653583 genome.wustl.edu 37 19 44005902 44005902 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198850.3 -1 validated p.R173H 0.000 24 0% 22 27.3% 12 75% benign(0) tolerated(0.13) neutral(0.253) NULL XRCC1 7515 genome.wustl.edu 37 19 44056177 44056177 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006297.2 -1 reviewed p.T358 0.992 108 0% 53 13.2% 38 5.2% - - - HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain IRGQ 126298 genome.wustl.edu 37 19 44096976 44096976 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001007561.2 -1 validated p.G358 0.000 200 0% 79 24.1% 3 0% - - - NULL ZNF576 79177 genome.wustl.edu 37 19 44103127 44103127 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001145347.1 +1 validated p.A77V 0.999 246 0% 126 33.3% 40 32.5% possibly_damaging(0.951) deleterious(0) deleterious(0.839) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 ZNF576 79177 genome.wustl.edu 37 19 44103344 44103344 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001145347.1 +1 validated p.G149 0.977 103 0% 50 30% 27 48.1% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 IRGC 56269 genome.wustl.edu 37 19 44223001 44223001 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019612.3 +1 validated p.S97 0.000 41 0% 21 66.7% 0 - - - - HMMPfam_IIGP,superfamily_SSF52540 ZNF283 284349 genome.wustl.edu 37 19 44351968 44351968 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181845.1 +1 validated p.C405 0.178 464 0.4% 279 28.3% 4 25% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF404 342908 genome.wustl.edu 37 19 44377491 44377491 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001033719.2 -1 validated p.I292S 0.998 264 0% 138 18.8% 3 0% probably_damaging(0.991) deleterious(0.02) deleterious(0.827) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF404 342908 genome.wustl.edu 37 19 44377970 44377970 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001033719.2 -1 validated p.E132D 0.027 610 0% 412 22.8% 2 0% benign(0.246) tolerated(0.09) neutral(0.322) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF155 7711 genome.wustl.edu 37 19 44500313 44500313 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003445.2 +1 validated p.Q102* 0.001 338 0% 192 25.5% 9 66.6% - - - NULL ZNF230 7773 genome.wustl.edu 37 19 44515101 44515101 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006300.3 +1 validated p.A304S 0.966 429 0% 246 33.3% 1 0% benign(0.117) deleterious(0.02) neutral(0.393) superfamily_SSF57667 ZNF224 7767 genome.wustl.edu 37 19 44611367 44611367 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013398.2 +1 validated p.G352C 0.004 379 0.3% 187 23% 13 23% benign(0.055) tolerated(0.14) neutral(0.253) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF225 7768 genome.wustl.edu 37 19 44635400 44635400 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013362.2 +1 validated p.K211 0.024 350 0% 194 27.8% 4 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF234 10780 genome.wustl.edu 37 19 44654589 44654589 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001144824.1 +1 validated p.V56I 0.000 96 0% 57 29.8% 4 50% benign(0) tolerated(0.46) neutral(0.012) HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF234 10780 genome.wustl.edu 37 19 44661744 44661744 + Silent SNP G G A rs186620429 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001144824.1 +1 validated p.S525 0.000 429 0% 256 23.4% 3 66.6% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF226 7769 genome.wustl.edu 37 19 44680251 44680251 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001032372.1 +1 validated p.S279Y 0.563 196 0% 123 17.9% 7 0% possibly_damaging(0.654) deleterious(0.04) deleterious(0.579) superfamily_SSF57667 ZNF226 7769 genome.wustl.edu 37 19 44681246 44681246 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001032372.1 +1 validated p.G611* 1.000 398 0% 264 15.5% 12 8.3% - - - superfamily_SSF57667 ZNF227 7770 genome.wustl.edu 37 19 44739729 44739729 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182490.1 +1 provisional p.C382 0.072 246 0% 145 10.3% 13 15.3% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF233 353355 genome.wustl.edu 37 19 44777590 44777590 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181756.1 +1 provisional p.T259 0.164 214 0% 184 37.5% 1 0% - - - NULL ZNF235 9310 genome.wustl.edu 37 19 44792423 44792423 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004234.4 -1 reviewed p.D389Y 0.004 229 0% 175 16.6% 1 0% probably_damaging(1) tolerated(1) deleterious(0.500) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF285 26974 genome.wustl.edu 37 19 44890741 44890741 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152354.3 -1 validated p.L556I 0.000 242 0% 148 27.7% 0 - probably_damaging(0.98) tolerated(0.13) deleterious(0.676) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF285 26974 genome.wustl.edu 37 19 44891353 44891353 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152354.3 -1 validated p.G352W 0.509 199 0% 127 26.8% 0 - probably_damaging(0.984) deleterious(0.01) deleterious(0.836) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers BCL3 602 genome.wustl.edu 37 19 45259556 45259556 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005178.4 +1 reviewed p.Q160* 0.998 27 0% 23 26.1% 64 18.7% - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat BCAM 4059 genome.wustl.edu 37 19 45316540 45316540 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005581.3 +1 reviewed p.A180T 0.289 172 0% 116 23.3% 121 40.4% possibly_damaging(0.689) tolerated(0.28) neutral(0.278) HMMPfam_C2-set_2,superfamily_SSF48726 PVRL2 5819 genome.wustl.edu 37 19 45375274 45375274 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001042724.1 +1 reviewed p.G215R 0.773 417 0.2% 245 35.1% 182 41.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_C2-set_2,superfamily_Immunoglobulin ERCC1 2067 genome.wustl.edu 37 19 45918127 45918127 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_202001.2 -1 reviewed p.V232I 0.995 147 0% 84 31% 82 32.9% benign(0.028) tolerated(0.3) neutral(0.030) superfamily_RuvA_2_like ERCC1 2067 genome.wustl.edu 37 19 45918159 45918159 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_202001.2 -1 reviewed p.D221V 1.000 171 0% 95 18.9% 99 50.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_RuvA_2_like FOSB 2354 genome.wustl.edu 37 19 45973893 45973893 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006732.2 +1 reviewed p.A45T 1.000 271 0.4% 112 27.7% 1 0% benign(0.253) tolerated(1) neutral(0.026) NULL RTN2 6253 genome.wustl.edu 37 19 45997490 45997490 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005619.3 -1 reviewed p.P250S 1.000 123 0% 72 13.9% 1 0% probably_damaging(0.999) tolerated(0.21) deleterious(0.534) NULL RTN2 6253 genome.wustl.edu 37 19 45997792 45997792 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005619.3 -1 reviewed p.A184D 0.956 156 0% 75 20% 3 33.3% possibly_damaging(0.638) deleterious(0.01) deleterious(0.629) NULL PPM1N 147699 genome.wustl.edu 37 19 46003765 46003765 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080401.1 +1 provisional p.T370N 0.996 62 0% 39 38.5% 2 0% probably_damaging(0.99) tolerated(0.5) neutral(0.452) HMMPfam_PP2C_C,superfamily_Protein serine/threonine phosphatase 2C C-terminal domain GPR4 2828 genome.wustl.edu 37 19 46094571 46094571 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005282.2 -1 validated p.R185Q 1.000 68 0% 33 33.3% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 FBXO46 23403 genome.wustl.edu 37 19 46215152 46215152 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080469.1 -1 provisional p.R534 1.000 29 0% 11 45.5% 37 21.6% - - - superfamily_F-box domain FBXO46 23403 genome.wustl.edu 37 19 46215533 46215533 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080469.1 -1 provisional p.Q407H 1.000 43 0% 17 35.3% 10 30% probably_damaging(0.991) tolerated(0.12) deleterious(0.705) NULL FBXO46 23403 genome.wustl.edu 37 19 46216272 46216272 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080469.1 -1 provisional p.A161V 0.001 42 0% 25 40% 11 27.2% benign(0) tolerated(0.41) neutral(0.015) NULL RSPH6A 81492 genome.wustl.edu 37 19 46299297 46299297 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030785.3 -1 reviewed p.P662S 1.000 146 0% 71 33.8% 0 - probably_damaging(0.997) deleterious(0.02) deleterious(0.849) HMMPfam_Radial_spoke RSPH6A 81492 genome.wustl.edu 37 19 46307715 46307715 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030785.3 -1 reviewed p.A483V 0.999 55 0% 28 35.7% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Radial_spoke RSPH6A 81492 genome.wustl.edu 37 19 46318264 46318264 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030785.3 -1 reviewed p.W57* 0.020 45 0% 24 41.7% 0 - - - - NULL HIF3A 64344 genome.wustl.edu 37 19 46823775 46823775 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000414707 +1 known p.A310V 0.000 86 1.2% 53 28.3% 0 - - - - NULL CCDC8 83987 genome.wustl.edu 37 19 46914720 46914720 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032040.3 -1 validated p.G450C 0.001 167 0.6% 81 38.3% 2 0% unknown(0) deleterious(0) - NULL PRKD2 25865 genome.wustl.edu 37 19 47207835 47207835 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001079880.1 -1 reviewed p.R195C 1.000 44 0% 35 20% 56 16% possibly_damaging(0.925) tolerated(0.05) deleterious(0.719) NULL ARHGAP35 2909 genome.wustl.edu 37 19 47425116 47425116 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004491.4 +1 reviewed p.G1062C 1.000 161 0% 103 25.2% 14 21.4% possibly_damaging(0.637) deleterious(0) deleterious(0.667) NULL ZC3H4 23211 genome.wustl.edu 37 19 47585444 47585444 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015168.1 -1 validated p.H443Y 1.000 181 0% 96 32.3% 14 42.8% unknown(0) deleterious(0) - HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1 ZC3H4 23211 genome.wustl.edu 37 19 47588355 47588355 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015168.1 -1 validated p.G355 0.952 521 0.2% 276 25.7% 7 42.8% - - - NULL ZC3H4 23211 genome.wustl.edu 37 19 47597331 47597331 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015168.1 -1 validated p.A130T 0.939 118 0% 63 27% 9 22.2% unknown(0) tolerated(0.05) - NULL SAE1 10055 genome.wustl.edu 37 19 47656226 47656226 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000270225 +1 known p.K152N 1.000 725 0.1% 432 22.7% 87 40.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ThiF,superfamily_Activating enzymes of the ubiquitin-like proteins SAE1 10055 genome.wustl.edu 37 19 47658419 47658419 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005500.2 +1 validated p.P192L 0.995 557 0% 305 11.8% 113 19.4% - - - NULL CCDC9 26093 genome.wustl.edu 37 19 47761900 47761900 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015603.2 +1 validated p.A30T 1.000 229 0% 108 32.4% 10 50% probably_damaging(0.98) deleterious(0.02) deleterious(0.807) NULL GPR77 27202 genome.wustl.edu 37 19 47844135 47844135 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018485.1 +1 provisional p.A27T 0.000 43 0% 28 25% 4 50% benign(0) tolerated(1) - superfamily_Family A G protein-coupled receptor-like DHX34 9704 genome.wustl.edu 37 19 47858482 47858482 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014681.5 +1 reviewed p.L298M 1.000 266 0% 144 23.6% 26 53.8% possibly_damaging(0.74) deleterious(0.01) deleterious(0.677) HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases NAPA 8775 genome.wustl.edu 37 19 47991588 47991588 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003827.2 -1 reviewed p.R282H 1.000 25 0% 16 37.5% 264 37.5% possibly_damaging(0.812) deleterious(0) deleterious(0.750) superfamily_TPR-like EHD2 30846 genome.wustl.edu 37 19 48244544 48244544 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014601.3 +1 reviewed p.D496G 1.000 64 0% 28 17.9% 11 0% probably_damaging(0.997) tolerated(0.09) deleterious(0.762) HMMSmart_SM00027,PatternScan_EF_HAND_1,superfamily_EF-hand PLA2G4C 8605 genome.wustl.edu 37 19 48556371 48556371 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003706.2 -1 reviewed p.T488I 0.012 162 0% 80 33.8% 2 0% probably_damaging(0.998) tolerated(0.39) deleterious(0.490) HMMSmart_PLAc,superfamily_Acyl_Trfase/lysoPlipase PLA2G4C 8605 genome.wustl.edu 37 19 48593651 48593651 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003706.2 -1 reviewed p.N245D 0.018 214 0.5% 134 26.1% 2 0% benign(0) tolerated(0.91) - HMMSmart_PLAc,superfamily_Acyl_Trfase/lysoPlipase PLA2G4C 8605 genome.wustl.edu 37 19 48603026 48603026 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003706.2 -1 reviewed p.A117T 0.000 187 0% 118 29.7% 5 0% benign(0.062) tolerated(0.39) neutral(0.020) HMMSmart_PLAc,superfamily_Acyl_Trfase/lysoPlipase TMEM143 55260 genome.wustl.edu 37 19 48848492 48848492 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018273.2 -1 provisional p.Q163H 1.000 441 0% 196 29.6% 4 25% benign(0.01) tolerated(0.14) neutral(0.250) NULL SYNGR4 23546 genome.wustl.edu 37 19 48878934 48878934 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012451.2 +1 reviewed p.P132 0.000 115 0% 66 25.8% 1 0% - - - HMMPfam_MARVEL GRIN2D 2906 genome.wustl.edu 37 19 48908135 48908135 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000836.2 +1 reviewed p.I204V 1.000 149 0% 83 32.5% 6 0% benign(0.004) tolerated(0.85) neutral(0.001) HMMPfam_ANF_receptor,superfamily_SSF53822 CA11 770 genome.wustl.edu 37 19 49143442 49143442 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001217.3 -1 reviewed p.S127R 1.000 156 0% 98 38.8% 6 0% possibly_damaging(0.62) tolerated(0.94) neutral(0.216) HMMPfam_Carb_anhydrase,superfamily_Euk_COanhd PPP1R15A 23645 genome.wustl.edu 37 19 49376811 49376811 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014330.3 +1 validated p.A107 0.004 349 0% 204 28.9% 79 41.7% - - - NULL TULP2 7288 genome.wustl.edu 37 19 49384345 49384345 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003323.2 -1 validated p.D496Y 1.000 292 0% 147 28.6% 0 - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMPfam_Tub,superfamily_Tubby_C TULP2 7288 genome.wustl.edu 37 19 49391446 49391446 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003323.2 -1 validated p.E237* 0.002 200 0% 87 11.5% 0 - - - - NULL DHDH 27294 genome.wustl.edu 37 19 49445795 49445795 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014475.3 +1 reviewed p.V240M 0.688 46 0% 19 26.3% 2 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF55347 GYS1 2997 genome.wustl.edu 37 19 49477527 49477527 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002103.4 -1 reviewed p.R498C 1.000 34 0% 27 25.9% 49 40.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glycogen_syn,superfamily_SSF53756 RUVBL2 10856 genome.wustl.edu 37 19 49513293 49513293 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006666.1 +1 reviewed p.R211 0.947 40 0% 17 23.5% 229 38.8% - - - HMMSmart_AAA,HMMPfam_TIP49,superfamily_SSF52540 CGB7 94027 genome.wustl.edu 37 19 49558181 49558181 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033142.1 -1 reviewed p.A34T 1.000 74 0% 35 14.3% 1 0% benign(0.291) tolerated(0.27) neutral(0.123) HMMSmart_GHB,HMMPfam_Cys_knot,superfamily_SSF57501 LIN7B 64130 genome.wustl.edu 37 19 49621171 49621171 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022165.2 +1 validated p.S166 0.409 131 0% 61 27.9% 8 25% - - - HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ TRPM4 54795 genome.wustl.edu 37 19 49685863 49685863 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017636.2 +1 provisional p.D431V 0.998 172 0% 92 16.3% 30 60% probably_damaging(1) tolerated(0.05) deleterious(0.845) NULL TRPM4 54795 genome.wustl.edu 37 19 49686005 49686005 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017636.2 +1 provisional p.D478E 1.000 99 0% 41 22% 28 50% benign(0.009) tolerated(0.7) neutral(0.003) NULL SLC6A16 28968 genome.wustl.edu 37 19 49814670 49814670 + Splice_Site SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014037.2 -1 validated e1-2 0.964 189 0% 92 23.9% 2 50% - - - - RCN3 57333 genome.wustl.edu 37 19 50031851 50031851 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020650.2 +1 provisional p.S41I 1.000 202 0% 114 37.7% 3 33.3% probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_SSF47473 RCN3 57333 genome.wustl.edu 37 19 50040454 50040454 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020650.2 +1 provisional p.V204M 1.000 202 0% 92 29.3% 14 7.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_EFh,superfamily_SSF47473 BCL2L12 83596 genome.wustl.edu 37 19 50170336 50170336 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138639.1 +1 reviewed p.C140 0.816 84 0% 45 28.9% 34 32.3% - - - NULL CPT1C 126129 genome.wustl.edu 37 19 50208013 50208013 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152359.1 +1 provisional p.P247L 0.995 46 0% 15 40% 2 0% possibly_damaging(0.905) deleterious(0) deleterious(0.804) HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases AP2A1 160 genome.wustl.edu 37 19 50285068 50285068 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014203.2 +1 reviewed p.R41H 1.000 128 0% 62 27.4% 40 37.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Adaptin_N,superfamily_ARM repeat AP2A1 160 genome.wustl.edu 37 19 50295289 50295289 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014203.2 +1 reviewed p.R191C 0.993 61 0% 25 16% 70 40% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Adaptin_N,superfamily_ARM repeat FUZ 80199 genome.wustl.edu 37 19 50315912 50315912 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025129.4 -1 validated p.T65A 0.961 126 0% 47 34% 5 0% probably_damaging(0.996) tolerated(0.09) deleterious(0.758) NULL PTOV1 53635 genome.wustl.edu 37 19 50363285 50363285 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017432.3 +1 provisional p.R362C 1.000 101 0% 42 28.6% 260 40.7% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TBC1D17 79735 genome.wustl.edu 37 19 50387721 50387721 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024682.2 +1 validated p.V417I 1.000 75 0% 43 37.2% 48 33.3% possibly_damaging(0.929) deleterious(0) deleterious(0.821) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p IL4I1 259307 genome.wustl.edu 37 19 50397657 50397657 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_172374.1 -1 reviewed p.T167 0.091 66 0% 38 15.8% 13 0% - - - HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain SIGLEC11 114132 genome.wustl.edu 37 19 50463809 50463809 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052884.2 -1 validated p.A154T 0.179 162 0% 73 21.9% 1 0% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_V-set,superfamily_Immunoglobulin VRK3 51231 genome.wustl.edu 37 19 50482459 50482459 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016440.3 -1 reviewed p.T439 0.062 174 0.6% 75 22.7% 38 42.1% - - - HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) ZNF473 25888 genome.wustl.edu 37 19 50548081 50548081 + Silent SNP C C T rs138578486 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001006656.1 +1 validated p.G127 0.937 272 0% 164 28.7% 6 16.6% - - - NULL ZNF473 25888 genome.wustl.edu 37 19 50548737 50548737 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001006656.1 +1 validated p.R346H 0.003 458 0% 246 32.1% 8 75% probably_damaging(0.974) tolerated(0.15) deleterious(0.657) superfamily_C2H2 and C2HC zinc fingers NR1H2 7376 genome.wustl.edu 37 19 50882299 50882299 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007121.4 +1 validated p.R263H 0.996 102 0% 57 38.6% 55 38.1% probably_damaging(1) tolerated(0.16) deleterious(0.559) superfamily_Nuclear receptor ligand-binding domain MYBPC2 4606 genome.wustl.edu 37 19 50958447 50958447 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004533.3 +1 validated p.E699D 1.000 278 0% 153 35.9% 1 0% probably_damaging(0.99) deleterious(0.03) deleterious(0.806) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like MYBPC2 4606 genome.wustl.edu 37 19 50958802 50958802 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004533.3 +1 validated p.D747N 1.000 402 0% 215 27.9% 0 - probably_damaging(0.976) tolerated(0.05) deleterious(0.763) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like FAM71E1 112703 genome.wustl.edu 37 19 50979469 50979469 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138411.1 -1 predicted p.D59 0.055 38 0% 19 21.1% 1 0% - - - NULL SYT3 84258 genome.wustl.edu 37 19 51135997 51135997 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032298.2 -1 validated p.V74M 1.000 119 0% 83 19.3% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL SYT3 84258 genome.wustl.edu 37 19 51140611 51140611 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032298.2 -1 validated p.L20I 1.000 27 0% 14 42.9% 1 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL SHANK1 50944 genome.wustl.edu 37 19 51165541 51165541 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016148.2 -1 validated p.P2056L 0.977 47 0% 14 28.6% 0 - probably_damaging(0.99) tolerated(0.69) neutral(0.444) NULL SHANK1 50944 genome.wustl.edu 37 19 51172439 51172439 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016148.2 -1 validated p.T926 0.968 24 0% 22 36.4% 0 - - - - NULL SHANK1 50944 genome.wustl.edu 37 19 51192521 51192521 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016148.2 -1 validated p.K660N 1.000 199 0% 90 27.8% 0 - probably_damaging(1) tolerated(0.15) deleterious(0.741) superfamily_PDZ domain-like CLEC11A 6320 genome.wustl.edu 37 19 51227249 51227249 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002975.2 +1 reviewed p.E79K 0.009 114 0% 53 41.5% 0 - possibly_damaging(0.615) tolerated(0.21) neutral(0.258) NULL GPR32 2854 genome.wustl.edu 37 19 51274701 51274701 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001506.1 +1 provisional p.R282* 0.000 166 0% 107 30.8% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 KLK1 3816 genome.wustl.edu 37 19 51323614 51323614 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002257.2 -1 reviewed p.H98Y 0.994 221 0% 104 26.9% 2 0% benign(0.095) deleterious(0) neutral(0.452) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases KLK7 5650 genome.wustl.edu 37 19 51483628 51483628 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005046.2 -1 reviewed p.L113I 0.602 48 0% 21 19% 0 - benign(0.014) tolerated(0.89) neutral(0.001) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases SIGLEC9 27180 genome.wustl.edu 37 19 51628469 51628469 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014441.1 +1 provisional p.A80T 0.001 239 0% 127 14.2% 1 0% benign(0.005) tolerated(0.59) neutral(0.004) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 SIGLEC9 27180 genome.wustl.edu 37 19 51630306 51630306 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014441.1 +1 provisional p.N256 0.000 216 0% 106 31.1% 3 0% - - - superfamily_SSF48726 ETFB 2109 genome.wustl.edu 37 19 51857658 51857658 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001014763.1 -1 reviewed p.V79I 0.001 55 0% 26 73.1% 0 - possibly_damaging(0.574) deleterious(0) deleterious(0.641) NULL NKG7 4818 genome.wustl.edu 37 19 51875420 51875420 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005601.3 -1 validated p.A100V 0.999 120 0% 87 37.9% 22 0% possibly_damaging(0.68) deleterious(0.02) deleterious(0.625) HMMPfam_PMP22_Claudin SIGLEC10 89790 genome.wustl.edu 37 19 51918562 51918562 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033130.4 -1 validated p.P401 0.000 117 0% 64 39.1% 5 0% - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin SIGLEC10 89790 genome.wustl.edu 37 19 51919981 51919981 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033130.4 -1 validated p.C215* 0.154 107 0% 66 21.2% 11 0% - - - HMMSmart_SM00409,HMMPfam_C2-set_2,superfamily_Immunoglobulin SIGLEC10 89790 genome.wustl.edu 37 19 51920360 51920360 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033130.4 -1 validated p.D133N 0.000 247 0% 145 34.5% 3 0% benign(0) tolerated(1) - HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin SIGLEC8 27181 genome.wustl.edu 37 19 51957544 51957544 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014442.2 -1 validated p.A392T 0.000 237 0.8% 119 27.7% 1 0% benign(0.005) deleterious(0.05) neutral(0.345) NULL SIGLEC8 27181 genome.wustl.edu 37 19 51960914 51960914 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014442.2 -1 validated p.P178 0.211 184 0% 120 22.5% 1 0% - - - HMMSmart_SM00409,HMMPfam_C2-set_2,superfamily_Immunoglobulin CEACAM18 729767 genome.wustl.edu 37 19 51983894 51983894 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080405.1 +1 provisional p.G181 0.001 122 0% 74 18.9% 0 - - - - HMMSmart_SM00409,superfamily_Immunoglobulin CEACAM18 729767 genome.wustl.edu 37 19 51984899 51984899 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080405.1 +1 provisional p.R279H 0.000 118 0% 50 22% 0 - probably_damaging(0.959) deleterious(0.01) deleterious(0.808) HMMSmart_SM00409,superfamily_Immunoglobulin SIGLEC12 89858 genome.wustl.edu 37 19 52003547 52003547 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_053003.2 -1 reviewed p.Q145H 0.001 191 0% 120 10% 2 0% probably_damaging(0.967) deleterious(0.01) deleterious(0.815) NULL HAS1 3036 genome.wustl.edu 37 19 52217022 52217022 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001523.2 -1 reviewed p.A465 0.989 47 0% 24 20.8% 0 - - - - NULL FPR1 2357 genome.wustl.edu 37 19 52249833 52249833 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002029.3 -1 validated p.V139M 0.000 343 0% 218 28% 14 0% benign(0.038) tolerated(0.11) neutral(0.274) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FPR3 2359 genome.wustl.edu 37 19 52327598 52327598 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002030.3 +1 validated p.K199N 0.917 610 0% 452 27.2% 4 0% benign(0.132) tolerated(0.15) neutral(0.252) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZNF649 65251 genome.wustl.edu 37 19 52400144 52400144 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_023074.3 -1 validated p.D35N 0.484 391 0% 254 28.3% 11 36.3% probably_damaging(1) tolerated(0.05) deleterious(0.845) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF613 79898 genome.wustl.edu 37 19 52448980 52448980 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001031721.3 +1 validated p.C615Y 0.961 161 0% 113 11.5% 0 - possibly_damaging(0.678) tolerated(0.19) neutral(0.291) NULL ZNF350 59348 genome.wustl.edu 37 19 52468553 52468553 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021632.3 -1 validated p.T385A 0.000 212 0.5% 123 12.2% 8 25% benign(0.075) tolerated(0.59) neutral(0.009) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF615 284370 genome.wustl.edu 37 19 52505450 52505450 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198480.2 -1 provisional p.R34 0.177 395 0.8% 247 25.9% 3 33.3% - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF432 9668 genome.wustl.edu 37 19 52538446 52538446 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014650.2 -1 provisional p.G162 0.000 161 0% 90 34.4% 3 66.6% - - - NULL ZNF616 90317 genome.wustl.edu 37 19 52619677 52619677 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178523.3 -1 validated p.G247D 0.978 345 0% 226 28.3% 6 100% probably_damaging(1) tolerated(0.11) deleterious(0.772) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF836 162962 genome.wustl.edu 37 19 52659624 52659624 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001102657.1 -1 provisional p.G438* 1.000 386 0.5% 237 11% 13 7.6% - - - superfamily_SSF57667 ZNF836 162962 genome.wustl.edu 37 19 52660146 52660146 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001102657.1 -1 provisional p.H264Y 0.928 177 0% 108 13.9% 7 0% probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 PPP2R1A 5518 genome.wustl.edu 37 19 52714648 52714648 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014225.5 +1 reviewed p.A136T 1.000 130 0% 53 39.6% 308 45.1% benign(0.116) deleterious(0.05) neutral(0.354) superfamily_ARM repeat ZNF480 147657 genome.wustl.edu 37 19 52825571 52825571 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144684.2 +1 validated p.A356 0.000 275 0% 213 23.5% 18 38.8% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF610 162963 genome.wustl.edu 37 19 52869977 52869977 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173530.2 +1 validated p.I449S 0.043 186 0% 137 28.5% 12 33.3% possibly_damaging(0.811) deleterious(0) deleterious(0.750) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF578 147660 genome.wustl.edu 37 19 53014448 53014448 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001099694.1 +1 validated p.R272* 0.000 562 0.4% 337 14.8% 0 - - - - HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF83 55769 genome.wustl.edu 37 19 53117693 53117693 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001105549.1 -1 validated p.H42R 0.000 390 0% 182 29.7% 18 27.7% possibly_damaging(0.719) tolerated(0.1) deleterious(0.547) NULL ZNF816 125893 genome.wustl.edu 37 19 53453564 53453564 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001031665.1 -1 validated p.K488N 0.144 315 0% 194 38.1% 10 50% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF415 55786 genome.wustl.edu 37 19 53612619 53612619 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018355.2 -1 validated p.H227N 0.000 309 0% 200 34.5% 16 37.5% benign(0.362) tolerated(0.3) neutral(0.144) superfamily_SSF57667 ZNF347 84671 genome.wustl.edu 37 19 53644771 53644771 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032584.2 -1 validated p.A437V 0.000 572 0% 355 24.8% 3 100% benign(0.036) tolerated(0.19) neutral(0.052) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF665 79788 genome.wustl.edu 37 19 53686148 53686148 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024733.3 -1 provisional p.A2T 0.184 434 0% 235 9.8% 0 - probably_damaging(0.998) tolerated(0.08) deleterious(0.774) superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF761 388561 genome.wustl.edu 37 19 53959099 53959099 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001008401.3 +1 validated p.T446 0.002 421 0.2% 227 14.1% 23 8.6% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_Multiheme cytochromes ZNF761 388561 genome.wustl.edu 37 19 53959614 53959614 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001008401.3 +1 validated p.T618M 0.000 543 0% 288 23.6% 25 24% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_Multiheme cytochromes ZNF761 388561 genome.wustl.edu 37 19 53959751 53959751 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001008401.3 +1 validated p.C664R 0.592 495 0% 290 26.9% 23 26% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_Multiheme cytochromes,superfamily_C2H2 and C2HC zinc fingers ZNF813 126017 genome.wustl.edu 37 19 53994557 53994557 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004301.3 +1 validated p.C357W 0.031 913 0% 573 24.6% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF813 126017 genome.wustl.edu 37 19 53994756 53994756 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004301.3 +1 validated p.A424T 0.000 280 0.4% 168 25% 0 - benign(0.001) deleterious(0.04) neutral(0.349) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF331 55422 genome.wustl.edu 37 19 54080421 54080421 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001079906.1 +1 validated p.V203I 0.002 222 0% 180 27.2% 11 81.8% benign(0.096) tolerated(0.45) neutral(0.019) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 MIR524 574478 genome.wustl.edu 37 19 54214313 54214313 + RNA SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000385242 +1 known NULL 0.018 387 0.3% 171 22.2% 0 - - - - - MIR519A1 574496 genome.wustl.edu 37 19 54255679 54255679 + RNA SNP G G A rs191444009 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000385257 +1 known NULL 0.006 776 0.1% 462 25.5% 0 - - - - - NLRP12 91662 genome.wustl.edu 37 19 54308607 54308607 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144687.2 -1 reviewed p.G781S 0.000 157 0% 80 16.3% 0 - benign(0.002) tolerated(0.82) neutral(0.001) HMMSmart_SM00368,superfamily_RNI-like NLRP12 91662 genome.wustl.edu 37 19 54313266 54313266 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144687.2 -1 reviewed p.A549 0.000 165 0% 75 36% 0 - - - - NULL MYADM 91663 genome.wustl.edu 37 19 54377178 54377178 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001020818.1 +1 validated p.R132H 0.003 263 0% 179 29.1% 177 32.2% possibly_damaging(0.87) tolerated(0.12) deleterious(0.599) HMMPfam_MARVEL MYADM 91663 genome.wustl.edu 37 19 54377544 54377544 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001020818.1 +1 validated p.A254V 0.992 323 0% 170 11.8% 154 21.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MARVEL PRKCG 5582 genome.wustl.edu 37 19 54395771 54395771 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002739.3 +1 reviewed p.K232M 1.000 32 0% 22 22.7% 0 - benign(0.004) deleterious(0.01) neutral(0.406) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB PRPF31 26121 genome.wustl.edu 37 19 54621812 54621812 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015629.3 +1 reviewed p.A52T 1.000 231 0% 134 23.9% 85 42.3% probably_damaging(0.972) deleterious(0.01) deleterious(0.820) NULL CNOT3 4849 genome.wustl.edu 37 19 54652017 54652017 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000440571 +1 known p.S265F 0.362 42 0% 22 22.7% 27 40.7% - - - NULL CNOT3 4849 genome.wustl.edu 37 19 54656270 54656270 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014516.2 +1 validated p.P604H 1.000 179 0% 107 32.7% 83 36.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NOT2_3_5 TMC4 147798 genome.wustl.edu 37 19 54675767 54675767 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001145303.1 -1 validated p.A61 0.000 94 0% 49 26.5% 31 51.6% - - - NULL LILRA6 79168 genome.wustl.edu 37 19 54746159 54746159 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024318.2 -1 validated p.A33D 1.000 223 0% 126 19% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF48726 LILRA3 11026 genome.wustl.edu 37 19 54802639 54802639 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006865.3 -1 validated p.R268C 0.000 129 0% 50 10% 1 0% benign(0.006) tolerated(0.17) neutral(0.059) HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 LILRA5 353514 genome.wustl.edu 37 19 54822802 54822802 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021250.2 -1 reviewed p.L198 0.473 94 0% 62 33.9% 0 - - - - HMMSmart_SM00409,superfamily_Immunoglobulin LILRA5 353514 genome.wustl.edu 37 19 54823387 54823387 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021250.2 -1 reviewed p.E52 0.078 160 0% 100 25% 0 - - - - HMMSmart_SM00409,superfamily_Immunoglobulin LAIR1 3903 genome.wustl.edu 37 19 54870220 54870220 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000444687 -1 known p.G33V 0.000 91 1.1% 66 9.1% 0 - unknown(0) deleterious(0) - NULL LENG8 114823 genome.wustl.edu 37 19 54964770 54964770 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052925.2 +1 validated p.G121S 0.599 51 0% 26 38.5% 42 35.7% benign(0) tolerated(1) - NULL LENG9 94059 genome.wustl.edu 37 19 54973275 54973275 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198988.1 -1 validated p.E501K 0.001 96 0% 51 39.2% 13 38.4% benign(0) tolerated(0.61) neutral(0.004) NULL LILRA1 11024 genome.wustl.edu 37 19 55106614 55106614 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006863.1 +1 provisional p.T136 0.108 194 0% 96 29.2% 0 - - - - HMMSmart_SM00409,superfamily_Immunoglobulin LILRB1 10859 genome.wustl.edu 37 19 55144678 55144678 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001081637.1 +1 reviewed p.A390 0.001 219 0% 132 25% 5 0% - - - HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 LILRB1 10859 genome.wustl.edu 37 19 55146744 55146744 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001081637.1 +1 reviewed p.L533I 0.048 151 0.7% 68 29.4% 5 0% probably_damaging(0.955) tolerated(0.18) neutral(0.455) NULL NLRP2 55655 genome.wustl.edu 37 19 55493563 55493563 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017852.3 +1 validated p.T166M 0.002 351 0% 179 31.3% 12 91.6% probably_damaging(0.974) deleterious(0.03) deleterious(0.780) superfamily_P-loop containing nucleoside triphosphate hydrolases NLRP2 55655 genome.wustl.edu 37 19 55494974 55494974 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017852.3 +1 validated p.D636 0.008 110 0% 54 35.2% 25 0% - - - NULL NLRP2 55655 genome.wustl.edu 37 19 55494994 55494994 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017852.3 +1 validated p.C643Y 0.404 113 0.9% 61 32.8% 34 97% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL GP6 51206 genome.wustl.edu 37 19 55543659 55543659 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001083899.1 -1 validated p.R58H 1.000 58 0% 44 45.5% 0 - possibly_damaging(0.945) tolerated(0.26) neutral(0.423) HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin PTPRH 5794 genome.wustl.edu 37 19 55707972 55707972 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002842.3 -1 validated p.R725 0.917 106 0% 55 29.1% 0 - - - - NULL PTPRH 5794 genome.wustl.edu 37 19 55716771 55716771 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002842.3 -1 validated p.G181E 0.000 353 0% 207 29.5% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PPP6R1 22870 genome.wustl.edu 37 19 55758376 55758376 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014931.3 -1 validated p.D32 1.000 104 0% 53 28.3% 37 32.4% - - - NULL U2AF2 11338 genome.wustl.edu 37 19 56170606 56170606 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007279.2 +1 reviewed p.R27H 1.000 22 0% 24 20.8% 123 50.4% possibly_damaging(0.944) tolerated(0.12) deleterious(0.649) NULL EPN1 29924 genome.wustl.edu 37 19 56204376 56204376 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001130071.1 +1 validated p.A499T 0.730 113 0% 50 42% 145 48.2% possibly_damaging(0.888) tolerated(0.19) neutral(0.397) NULL NLRP9 338321 genome.wustl.edu 37 19 56243456 56243456 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_176820.2 -1 reviewed p.A581T 0.000 271 0% 172 29.7% 0 - benign(0.002) tolerated(0.46) neutral(0.012) superfamily_RNI-like NLRP11 204801 genome.wustl.edu 37 19 56320320 56320320 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145007.3 -1 validated p.N552 0.001 540 0% 299 27.8% 0 - - - - NULL NLRP4 147945 genome.wustl.edu 37 19 56370289 56370289 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_134444.4 +1 validated p.K510N 0.000 280 0.4% 128 10.9% 0 - benign(0.004) tolerated(0.45) neutral(0.012) NULL NLRP4 147945 genome.wustl.edu 37 19 56370440 56370440 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_134444.4 +1 validated p.Q561* 0.006 160 0% 105 34.3% 0 - - - - NULL NLRP4 147945 genome.wustl.edu 37 19 56373439 56373439 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_134444.4 +1 validated p.S700R 0.000 246 0% 147 27.2% 0 - benign(0.023) deleterious(0.02) neutral(0.384) superfamily_RNI-like NLRP5 126206 genome.wustl.edu 37 19 56544090 56544090 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153447.4 +1 reviewed p.A797V 0.800 97 0% 38 23.7% 0 - possibly_damaging(0.76) deleterious(0.04) deleterious(0.630) superfamily_SSF52047 NLRP5 126206 genome.wustl.edu 37 19 56569725 56569725 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153447.4 +1 reviewed p.M1140T 0.000 78 0% 44 15.9% 0 - benign(0.001) tolerated(0.46) neutral(0.012) superfamily_SSF52047 LOC646698 646698 genome.wustl.edu 37 19 56758270 56758270 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_001725568.1 +1 model p.A300T 0.000 290 0% 162 9.9% 0 - - - - NULL LOC646698 646698 genome.wustl.edu 37 19 56758501 56758501 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_001725568.1 +1 model p.E377* 1.000 123 0.8% 73 24.7% 0 - - - - superfamily_C2H2 and C2HC zinc fingers ZNF583 147949 genome.wustl.edu 37 19 56934724 56934724 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152478.2 +1 validated p.I233F 0.956 466 0% 315 30.2% 7 42.8% probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF471 57573 genome.wustl.edu 37 19 57037213 57037213 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020813.2 +1 validated p.H593N 0.986 262 0% 167 21% 5 60% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF71 58491 genome.wustl.edu 37 19 57133099 57133099 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021216.4 +1 validated p.H148 0.807 162 0% 109 26.6% 7 42.8% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF835 90485 genome.wustl.edu 37 19 57175321 57175321 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005850.1 -1 provisional p.R438W 0.730 70 0% 24 37.5% 1 0% probably_damaging(0.991) deleterious(0) deleterious(0.889) superfamily_SSF57667 ZNF835 90485 genome.wustl.edu 37 19 57175946 57175946 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005850.1 -1 provisional p.T229 0.003 34 0% 16 50% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 PEG3 5178 genome.wustl.edu 37 19 57325757 57325757 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006210.2 -1 reviewed p.K1351N 0.562 300 0% 156 29.5% 1 0% possibly_damaging(0.858) deleterious(0.03) deleterious(0.696) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers USP29 57663 genome.wustl.edu 37 19 57640547 57640547 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020903.2 +1 validated p.K168 0.004 347 0% 255 29.8% 0 - - - - NULL ZIM3 114026 genome.wustl.edu 37 19 57649879 57649879 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052882.1 -1 provisional p.D35N 0.678 618 0.2% 339 23.6% 0 - possibly_damaging(0.435) tolerated(0.11) neutral(0.413) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box DUXA 503835 genome.wustl.edu 37 19 57666657 57666657 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001012729.1 -1 validated p.G174 0.001 158 0% 75 17.3% 0 - - - - NULL ZNF548 147694 genome.wustl.edu 37 19 57910873 57910873 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152909.3 +1 validated p.C406 0.000 966 0.2% 541 31.8% 10 90% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF17 7565 genome.wustl.edu 37 19 57931103 57931104 + Frame_Shift_Ins INS - - A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006959.2 +1 validated p.A82fs 0.000:0.000 - - - - - - - - - NULL ZNF17 7565 genome.wustl.edu 37 19 57932468 57932468 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006959.2 +1 validated p.R536 0.000 473 0% 262 27.9% 5 100% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF749 388567 genome.wustl.edu 37 19 57954785 57954785 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001023561.2 +1 provisional p.S90I 0.002 577 0% 252 30.2% 3 66.6% probably_damaging(0.986) tolerated(0.17) deleterious(0.493) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 ZNF749 388567 genome.wustl.edu 37 19 57956171 57956171 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001023561.2 +1 provisional p.R552M 0.003 687 0.3% 389 30.6% 6 33.3% unknown(0) deleterious(0.02) - superfamily_C2H2 and C2HC zinc fingers ZNF749 388567 genome.wustl.edu 37 19 57956684 57956684 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001023561.2 +1 provisional p.P723H 0.921 760 0% 432 28.7% 8 62.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_C2H2 and C2HC zinc fingers VN1R1 57191 genome.wustl.edu 37 19 57967566 57967566 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020633.2 -1 reviewed p.V97I 0.065 266 0% 122 29.5% 0 - possibly_damaging(0.896) tolerated(0.08) deleterious(0.653) superfamily_Family A G protein-coupled receptor-like ZIK1 284307 genome.wustl.edu 37 19 58101972 58101972 + Silent SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001010879.2 +1 provisional p.R265 0.994 353 0% 204 28.4% 0 - - - - superfamily_Multiheme cytochromes ZIK1 284307 genome.wustl.edu 37 19 58102328 58102328 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001010879.2 +1 provisional p.Q383 0.026 386 0% 230 24.8% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_Multiheme cytochromes,superfamily_C2H2 and C2HC zinc fingers ZNF530 348327 genome.wustl.edu 37 19 58117392 58117392 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020880.3 +1 validated p.P167S 0.000 263 0% 141 10.6% 2 0% possibly_damaging(0.747) tolerated(0.67) neutral(0.277) superfamily_SSF57667 ZNF134 7693 genome.wustl.edu 37 19 58131640 58131640 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003435.3 +1 provisional p.P51 0.152 315 0% 186 26.9% 15 73.3% - - - HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF551 90233 genome.wustl.edu 37 19 58198007 58198007 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138347.3 +1 validated p.H106Y 0.003 559 0% 271 24.4% 3 66.6% benign(0.394) tolerated(0.1) neutral(0.413) NULL ZNF154 7710 genome.wustl.edu 37 19 58216270 58216270 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001085384.1 -1 validated p.C37* 0.164 1214 0.1% 571 26.6% 1 0% - - - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF776 284309 genome.wustl.edu 37 19 58265272 58265272 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173632.3 +1 validated p.R258 1.000 339 0.3% 184 21.7% 6 50% - - - superfamily_C2H2 and C2HC zinc fingers ZNF776 284309 genome.wustl.edu 37 19 58265938 58265938 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173632.3 +1 validated p.Q480H 0.034 385 0.5% 221 26.7% 11 36.3% possibly_damaging(0.811) deleterious(0.03) deleterious(0.670) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF776 284309 genome.wustl.edu 37 19 58266021 58266021 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173632.3 +1 validated p.R508Q 0.152 351 0.3% 200 30.5% 9 77.7% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF552 79818 genome.wustl.edu 37 19 58324693 58324693 + Silent SNP C C T rs417518 TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024762.3 -1 validated p.T43 0.996 390 0.5% 218 27.1% 16 18.7% - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ENSG00000204517 0 genome.wustl.edu 37 19 58353163 58353163 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000442832 +1 known p.R374H 0.000 103 0% 63 41.3% 5 80% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF587 84914 genome.wustl.edu 37 19 58371294 58371294 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000339656 +1 known p.S505Y 0.000 764 0% 468 31.2% 5 40% benign(0.108) tolerated(0.12) neutral(0.269) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF814 730051 genome.wustl.edu 37 19 58384615 58384615 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001144989.1 -1 validated p.P715S 0.999 193 0% 111 30.6% 1 0% probably_damaging(0.961) deleterious(0.02) deleterious(0.787) superfamily_C2H2 and C2HC zinc fingers ZNF418 147686 genome.wustl.edu 37 19 58438362 58438362 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133460.1 -1 provisional p.R396Q 0.984 674 0% 385 26.2% 3 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF57667 ZNF418 147686 genome.wustl.edu 37 19 58438807 58438807 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133460.1 -1 provisional p.H248Y 0.040 403 0% 216 15.3% 3 66.6% benign(0.406) deleterious(0) deleterious(0.575) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF256 10172 genome.wustl.edu 37 19 58453500 58453500 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005773.2 -1 validated p.R226C 0.000 436 0% 273 34.1% 3 33.3% possibly_damaging(0.939) deleterious(0.02) deleterious(0.768) superfamily_C2H2 and C2HC zinc fingers ZNF606 80095 genome.wustl.edu 37 19 58499586 58499586 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025027.3 -1 validated p.R130H 0.049 225 0% 122 24.6% 10 70% possibly_damaging(0.646) tolerated(0.21) neutral(0.271) NULL ZNF606 80095 genome.wustl.edu 37 19 58499587 58499587 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025027.3 -1 validated p.R130C 0.004 226 0% 122 27.9% 10 10% possibly_damaging(0.646) tolerated(0.06) deleterious(0.549) NULL ZNF135 7694 genome.wustl.edu 37 19 58578881 58578881 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000391699 +1 known p.S361N 0.197 169 0% 96 24% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF274 10782 genome.wustl.edu 37 19 58723852 58723852 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133502.1 +1 reviewed p.T435I 0.000 348 0% 204 13.7% 28 14.2% - - - NULL ZSCAN22 342945 genome.wustl.edu 37 19 58850365 58850365 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181846.2 +1 validated p.D383 0.000 144 0% 88 10.2% 7 14.2% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF584 201514 genome.wustl.edu 37 19 58928523 58928523 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173548.1 +1 provisional p.A213V 0.790 188 0% 90 28.9% 8 62.5% benign(0.013) deleterious(0) neutral(0.445) superfamily_SSF57667 ZNF324B 388569 genome.wustl.edu 37 19 58966496 58966496 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000391696 +1 known p.P52H 0.000 106 0.9% 68 26.5% 0 - unknown(0) - - NULL ZNF324B 388569 genome.wustl.edu 37 19 58966928 58966928 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207395.2 +1 validated p.A206V 0.001 54 0% 26 19.2% 3 66.6% benign(0.033) tolerated(0.61) neutral(0.005) NULL ZNF324 25799 genome.wustl.edu 37 19 58982161 58982161 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014347.1 +1 provisional p.T101I 0.001 204 0% 91 23.1% 4 25% benign(0.282) tolerated(0.18) neutral(0.142) NULL ZNF324 25799 genome.wustl.edu 37 19 58983210 58983210 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014347.1 +1 provisional p.R451W 1.000 60 0% 28 14.3% 6 66.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_C2H2 and C2HC zinc fingers ZNF446 55663 genome.wustl.edu 37 19 58989019 58989019 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017908.2 +1 provisional p.L120M 0.758 59 0% 27 25.9% 15 26.6% probably_damaging(0.998) tolerated(0.15) deleterious(0.716) HMMSmart_SCAN TRIM28 10155 genome.wustl.edu 37 19 59059706 59059706 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005762.2 +1 reviewed p.V383M 0.979 81 0% 33 39.4% 307 36.4% probably_damaging(0.981) tolerated(0.23) neutral(0.467) NULL CHMP2A 27243 genome.wustl.edu 37 19 59063042 59063042 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014453.2 -1 validated p.R215W 1.000 47 0% 23 52.2% 133 32.3% probably_damaging(0.972) deleterious(0) deleterious(0.859) NULL DEFB126 81623 genome.wustl.edu 37 20 126259 126259 + Missense_Mutation SNP G G A rs189212690 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030931.2 +1 reviewed p.A88T 0.000 520 0% 345 31.3% 0 - unknown(0) tolerated(1) - NULL ZCCHC3 85364 genome.wustl.edu 37 20 279368 279368 + Missense_Mutation SNP C C G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000382352 +1 known p.H381D 1.000 48 0% 32 12.5% 29 44.8% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_zf-CCHC,HMMSmart_ZnF_C2HC,superfamily_SSF57756 TRIB3 57761 genome.wustl.edu 37 20 368789 368789 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021158.3 +1 reviewed p.P45 0.234 62 0% 26 15.4% 52 44.2% - - - NULL RBCK1 10616 genome.wustl.edu 37 20 400055 400055 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000382181 +1 known p.P59Q 0.000 9 0.000 5 0.800 25 48% unknown(0) - - NULL TBC1D20 128637 genome.wustl.edu 37 20 419842 419842 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144628.2 -1 validated p.E289G 1.000 79 0% 58 25.9% 36 36.1% possibly_damaging(0.89) deleterious(0) deleterious(0.794) superfamily_Ypt/Rab-GAP domain of gyp1p CSNK2A1 1457 genome.wustl.edu 37 20 472920 472920 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001895.3 -1 reviewed p.P200H 1.000 293 0% 186 25.8% 86 39.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CSNK2A1 1457 genome.wustl.edu 37 20 478403 478403 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001895.3 -1 reviewed p.D130Y 1.000 186 0% 139 12.9% 63 17.4% possibly_damaging(0.931) tolerated(0.05) deleterious(0.723) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CSNK2A1 1457 genome.wustl.edu 37 20 479937 479937 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001895.3 -1 reviewed p.A110T 1.000 164 0% 117 14.5% 80 22.5% possibly_damaging(0.447) tolerated(0.07) neutral(0.465) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SLC52A3 113278 genome.wustl.edu 37 20 745952 745952 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033409.3 -1 validated p.A156V 1.000 64 0% 21 19% 11 27.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL NSFL1C 55968 genome.wustl.edu 37 20 1433203 1433203 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016143.3 -1 reviewed p.D240 0.867 362 0% 199 33.2% 105 40% - - - HMMPfam_SEP,HMMSmart_SM00553,superfamily_NSFL1 (p97 ATPase) cofactor p47 SEP domain SIRPA 140885 genome.wustl.edu 37 20 1918206 1918206 + Missense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001040022.1 +1 reviewed p.R503W 1.000 125 0% 87 20.7% 39 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CPXM1 56265 genome.wustl.edu 37 20 2777049 2777049 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019609.4 -1 reviewed p.N362 0.977 190 0% 77 27.3% 9 0% - - - HMMPfam_Peptidase_M14,PatternScan_CARBOXYPEPT_ZN_1,superfamily_Zn-dependent exopeptidases FAM113A 64773 genome.wustl.edu 37 20 2816138 2816138 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022760.3 -1 predicted p.P445 0.932 95 0% 67 11.9% 13 15.3% - - - NULL FAM113A 64773 genome.wustl.edu 37 20 2820477 2820477 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022760.3 -1 predicted p.Q28* 1.000 66 0% 37 27% 13 23% - - - NULL VPS16 64601 genome.wustl.edu 37 20 2845103 2845103 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022575.2 +1 reviewed p.R605* 1.000 292 0% 151 32.5% 31 6.4% - - - HMMPfam_Vps16_C PTPRA 5786 genome.wustl.edu 37 20 3008484 3008484 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002836.3 +1 reviewed p.G639 0.993 192 0% 103 20.4% 69 36.2% - - - HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 FASTKD5 60493 genome.wustl.edu 37 20 3127491 3127491 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021826.4 -1 validated p.P742 0.479 229 0.4% 185 18.9% 32 25% - - - HMMPfam_RAP FASTKD5 60493 genome.wustl.edu 37 20 3128988 3128988 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021826.4 -1 validated p.Q243H 1.000 167 0% 92 12% 32 25% probably_damaging(0.983) deleterious(0.02) deleterious(0.812) NULL ATRN 8455 genome.wustl.edu 37 20 3581673 3581673 + Splice_Site SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_139321.2 +1 reviewed e23+2 1.000 203 0% 140 11.4% 5 100% - - - - HSPA12B 116835 genome.wustl.edu 37 20 3726219 3726219 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052970.3 +1 reviewed p.R178H 1.000 44 0% 21 38.1% 4 0% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) superfamily_SSF53067 C20orf27 54976 genome.wustl.edu 37 20 3736209 3736209 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001039140.1 -1 validated p.L95 0.998 39 0% 26 23.1% 76 38.1% - - - NULL PANK2 80025 genome.wustl.edu 37 20 3897573 3897573 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153638.2 +1 reviewed e5-1 1.000 159 0% 108 24.1% 1 100% - - - - SMOX 54498 genome.wustl.edu 37 20 4163381 4163381 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_175839.1 +1 reviewed p.R419C 1.000 116 0% 48 18.8% 26 38.4% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain,superfamily_FAD-linked reductases C-terminal domain PROKR2 128674 genome.wustl.edu 37 20 5282877 5282877 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144773.2 -1 reviewed p.A322T 1.000 176 0% 116 11.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 MCM8 84515 genome.wustl.edu 37 20 5939314 5939314 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032485.4 +1 reviewed p.A244V 0.716 214 0% 125 12% 10 20% benign(0) tolerated(0.31) neutral(0.027) HMMSmart_SM00350,superfamily_Nucleic acid-binding proteins MCM8 84515 genome.wustl.edu 37 20 5966722 5966722 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032485.4 +1 reviewed p.L703S 0.956 251 0% 143 11.2% 12 25% benign(0) tolerated(0.77) neutral(0.001) HMMPfam_MCM,HMMSmart_SM00350,superfamily_P-loop containing nucleoside triphosphate hydrolases CRLS1 54675 genome.wustl.edu 37 20 5996117 5996117 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019095.4 +1 validated p.T185 1.000 299 0% 204 20.6% 36 63.8% - - - HMMPfam_CDP-OH_P_transf FERMT1 55612 genome.wustl.edu 37 20 6064774 6064774 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017671.4 -1 reviewed p.A544V 1.000 88 0% 34 26.5% 2 0% possibly_damaging(0.93) tolerated(0.29) neutral(0.406) PatternScan_FERM_2,HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295 BMP2 650 genome.wustl.edu 37 20 6758934 6758934 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001200.2 +1 reviewed p.R130Q 1.000 231 0% 148 29.7% 1 0% benign(0.008) tolerated(0.33) neutral(0.024) HMMPfam_TGFb_propeptide ANKRD5 63926 genome.wustl.edu 37 20 10023811 10023811 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022096.4 +1 validated p.R130C 1.000 283 0% 193 25.4% 2 0% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMSmart_SM00248,superfamily_Ankyrin repeat ANKRD5 63926 genome.wustl.edu 37 20 10030316 10030316 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022096.4 +1 validated p.Q367* 0.014 186 0% 145 31% 8 0% - - - superfamily_Ankyrin repeat,superfamily_EF-hand ANKRD5 63926 genome.wustl.edu 37 20 10030573 10030573 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022096.4 +1 validated p.P452 0.000 270 0.4% 196 30.6% 7 85.7% - - - superfamily_Ankyrin repeat ANKRD5 63926 genome.wustl.edu 37 20 10035113 10035113 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022096.4 +1 validated p.L680 0.000 156 0% 163 33.1% 7 42.8% - - - NULL MKKS 8195 genome.wustl.edu 37 20 10389389 10389389 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018848.2 -1 reviewed p.V350M 0.065 102 0% 64 31.2% 45 57.7% possibly_damaging(0.682) deleterious(0.02) deleterious(0.626) HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like,superfamily_GroEL apical domain-like C20orf94 128710 genome.wustl.edu 37 20 10603861 10603861 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001009608.1 +1 validated p.T354M 0.000 249 1.2% 151 25.8% 4 50% possibly_damaging(0.943) tolerated(0.12) deleterious(0.648) NULL JAG1 182 genome.wustl.edu 37 20 10620541 10620541 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000214.2 -1 reviewed p.A1088S 0.998 48 0% 38 31.6% 37 56.7% benign(0) tolerated(0.41) neutral(0.015) NULL BTBD3 22903 genome.wustl.edu 37 20 11903745 11903745 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014962.2 +1 validated p.A334T 1.000 235 0% 166 30.7% 29 44.8% benign(0.371) tolerated(0.12) neutral(0.379) NULL SPTLC3 55304 genome.wustl.edu 37 20 13074169 13074169 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018327.2 +1 validated p.S257 0.793 214 0% 118 35.6% 0 - - - - HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases ISM1 140862 genome.wustl.edu 37 20 13279751 13279751 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080826.1 +1 validated p.R347H 1.000 40 0% 23 30.4% 5 0% possibly_damaging(0.847) deleterious(0.01) deleterious(0.731) HMMPfam_AMOP,HMMSmart_AMOP ISM1 140862 genome.wustl.edu 37 20 13279910 13279910 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080826.1 +1 validated p.A400V 1.000 74 0% 28 32.1% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AMOP,HMMSmart_AMOP TASP1 55617 genome.wustl.edu 37 20 13415697 13415697 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017714.2 -1 reviewed p.L364F 1.000 85 0% 67 17.9% 20 50% benign(0.132) tolerated(0.23) neutral(0.053) superfamily_SSF56235 FLRT3 23767 genome.wustl.edu 37 20 14306253 14306253 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013281.2 -1 reviewed p.R634* 1.000 274 0% 241 29.9% 1 100% - - - NULL MACROD2 140733 genome.wustl.edu 37 20 15866408 15866408 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080676.5 +1 validated e10-1 1.000 498 0% 476 27.7% 0 - - - - - KIF16B 55614 genome.wustl.edu 37 20 16253905 16253905 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024704.3 -1 validated p.T1316M 1.000 128 0% 74 13.5% 12 8.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIF16B 55614 genome.wustl.edu 37 20 16337097 16337097 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024704.3 -1 validated p.R1167W 1.000 148 0.7% 98 25.5% 5 40% probably_damaging(1) tolerated(0.18) deleterious(0.556) NULL KIF16B 55614 genome.wustl.edu 37 20 16348464 16348464 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000408042 -1 known p.R1169H 0.000 87 0% 32 21.9% 6 16.6% possibly_damaging(0.905) tolerated(0.2) neutral(0.408) NULL KIF16B 55614 genome.wustl.edu 37 20 16360666 16360666 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024704.3 -1 validated p.R661C 1.000 433 0% 281 27.4% 4 100% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL PCSK2 5126 genome.wustl.edu 37 20 17240948 17240948 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002594.2 +1 reviewed p.R81C 1.000 373 0% 230 27.8% 0 - probably_damaging(1) deleterious(0.05) deleterious(0.845) superfamily_Protease propeptides/inhibitors LOC100286995 100286995 genome.wustl.edu 37 20 17616164 17616164 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002344180.1 +1 model p.G25V 0.000 23 0% 13 38.5% 0 - - - - NULL RRBP1 6238 genome.wustl.edu 37 20 17639669 17639669 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000246043 -1 known p.A495V 0.000 51 0% 26 50% 42 35.7% benign(0.005) deleterious(0.01) neutral(0.406) NULL CSRP2BP 57325 genome.wustl.edu 37 20 18142614 18142614 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020536.4 +1 reviewed p.A278V 0.996 598 0% 289 29.4% 13 46.1% benign(0.188) deleterious(0.01) neutral(0.423) NULL SLC24A3 57419 genome.wustl.edu 37 20 19701681 19701681 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020689.3 +1 validated p.G611D 1.000 255 0% 136 26.5% 10 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Na_Ca_ex RIN2 54453 genome.wustl.edu 37 20 19977394 19977394 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018993.2 +1 reviewed p.R758* 0.001 48 2.1% 29 41.4% 21 14.2% - - - HMMSmart_SM00167,superfamily_VPS9 domain (Pfam 02204) CRNKL1 51340 genome.wustl.edu 37 20 20025982 20025982 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016652.4 -1 reviewed p.A418 1.000 270 0% 129 27.1% 15 80% - - - HMMPfam_HAT,HMMSmart_SM00386,superfamily_TPR-like CRNKL1 51340 genome.wustl.edu 37 20 20028412 20028412 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016652.4 -1 reviewed p.R368* 0.989 134 0% 82 22% 36 8.3% - - - HMMPfam_HAT,HMMSmart_SM00386,superfamily_TPR-like C20orf26 26074 genome.wustl.edu 37 20 20079389 20079389 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015585.3 +1 validated p.G264R 0.999 476 0% 241 28.6% 1 0% probably_damaging(0.999) tolerated(0.1) deleterious(0.777) NULL C20orf26 26074 genome.wustl.edu 37 20 20269313 20269313 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015585.3 +1 validated p.A953T 0.995 554 0.2% 330 11.2% 1 0% possibly_damaging(0.824) deleterious(0.01) deleterious(0.718) superfamily_FAD/NAD(P)-binding domain RALGAPA2 57186 genome.wustl.edu 37 20 20475915 20475915 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020343.2 -1 validated p.R1738H 1.000 288 0% 185 26.5% 15 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Rap_GAP,superfamily_Rap/Ran-GAP (Pfam 02145) RALGAPA2 57186 genome.wustl.edu 37 20 20484007 20484007 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000430436 -1 known p.P1549H 0.580 163 0% 75 24% 14 7.1% - - - HMMPfam_Rap_GAP,superfamily_Rap/Ran-GAP (Pfam 02145) XRN2 22803 genome.wustl.edu 37 20 21312264 21312264 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012255.3 +1 reviewed p.R214 1.000 175 0% 151 10.6% 60 11.6% - - - HMMPfam_XRN_N XRN2 22803 genome.wustl.edu 37 20 21312419 21312419 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012255.3 +1 reviewed p.H221 0.985 400 0% 321 36.8% 49 38.7% - - - HMMPfam_XRN_N XRN2 22803 genome.wustl.edu 37 20 21314629 21314629 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012255.3 +1 reviewed p.T374 0.973 227 0% 184 32.1% 64 53.1% - - - NULL XRN2 22803 genome.wustl.edu 37 20 21329054 21329054 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012255.3 +1 reviewed p.L617I 1.000 304 0% 180 26.1% 55 41.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NKX2-2 4821 genome.wustl.edu 37 20 21492616 21492616 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002509.2 -1 reviewed p.T256N 1.000 21 0.000 7 0.571 0 - unknown(0) deleterious(0.01) - NULL PAX1 5075 genome.wustl.edu 37 20 21687222 21687222 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006192.3 +1 validated p.G145S 1.000 42 0% 18 27.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PAX,HMMSmart_SM00351,PatternScan_PAIRED_1,superfamily_Homeodomain-like SSTR4 6754 genome.wustl.edu 37 20 23016360 23016360 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001052.2 +1 validated p.T80 0.904 81 0% 24 58.3% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 CD93 22918 genome.wustl.edu 37 20 23065135 23065135 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012072.3 -1 reviewed p.D565 0.000 89 0% 41 43.9% 4 0% - - - NULL GZF1 64412 genome.wustl.edu 37 20 23350249 23350249 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022482.3 +1 validated p.C552 0.998 197 0% 106 21.7% 12 8.3% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CST9L 128821 genome.wustl.edu 37 20 23549071 23549071 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080610.2 -1 reviewed p.W6L 0.000 61 0% 35 28.6% 0 - possibly_damaging(0.602) tolerated(0.83) neutral(0.209) NULL CST3 1471 genome.wustl.edu 37 20 23614595 23614595 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000099.2 -1 reviewed p.Q133H 0.000 164 0.6% 65 35.4% 1222 31.3% benign(0.185) tolerated(0.13) neutral(0.270) HMMSmart_CY,superfamily_SSF54403 ACSS1 84532 genome.wustl.edu 37 20 25038445 25038445 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032501.2 -1 reviewed p.G98 1.000 35 0% 18 44.4% 5 0% - - - superfamily_Acetyl-CoA synthetase-like ENTPD6 955 genome.wustl.edu 37 20 25187189 25187189 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001247.2 +1 reviewed p.R6H 0.000 215 0% 103 16.5% 13 23% benign(0) deleterious(0) neutral(0.445) NULL ENTPD6 955 genome.wustl.edu 37 20 25187856 25187856 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001247.2 +1 reviewed p.A67T 0.236 59 1.7% 30 26.7% 56 30.3% possibly_damaging(0.83) deleterious(0.02) deleterious(0.699) NULL ENTPD6 955 genome.wustl.edu 37 20 25190495 25190495 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000433417 +1 known p.R50H 0.975 672 0.1% 346 10.7% 72 25% - - - HMMPfam_GDA1_CD39 PYGB 5834 genome.wustl.edu 37 20 25257335 25257335 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002862.3 +1 reviewed p.T238 0.199 73 0% 19 47.4% 41 51.2% - - - HMMPfam_Phosphorylase,superfamily_SSF53756 PYGB 5834 genome.wustl.edu 37 20 25277046 25277046 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002862.3 +1 reviewed p.A807V 1.000 41 0% 22 31.8% 81 33.3% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Phosphorylase,superfamily_SSF53756 NINL 22981 genome.wustl.edu 37 20 25456924 25456924 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025176.4 -1 validated p.A1001 0.000 66 0% 36 33.3% 2 100% - - - NULL NINL 22981 genome.wustl.edu 37 20 25472060 25472060 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025176.4 -1 validated p.A471V 0.000 62 0% 21 42.9% 2 100% benign(0) tolerated(0.3) neutral(0.029) NULL NINL 22981 genome.wustl.edu 37 20 25472143 25472143 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025176.4 -1 validated p.Y443 0.914 89 0% 49 30.6% 3 33.3% - - - NULL ZNF337 26152 genome.wustl.edu 37 20 25657546 25657546 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015655.2 -1 validated p.S126 0.000 459 0% 326 31.6% 6 33.3% - - - NULL MYLK2 85366 genome.wustl.edu 37 20 30421540 30421540 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033118.3 +1 reviewed p.S577 0.972 88 0% 59 28.8% 0 - - - - NULL KIF3B 9371 genome.wustl.edu 37 20 30898181 30898181 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004798.2 +1 reviewed p.R201C 1.000 229 0% 129 24% 9 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases ASXL1 171023 genome.wustl.edu 37 20 31024252 31024252 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015338.5 +1 reviewed p.V1246D 0.000 161 0% 83 28.9% 15 26.6% benign(0.071) deleterious(0.01) neutral(0.411) NULL DNMT3B 1789 genome.wustl.edu 37 20 31383337 31383337 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006892.3 +1 reviewed p.R417* 1.000 190 0% 84 31% 3 33.3% - - - NULL BPIFB2 80341 genome.wustl.edu 37 20 31607515 31607515 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025227.1 +1 reviewed p.A347S 0.002 40 0% 21 19% 2 0% benign(0.009) tolerated(0.37) neutral(0.019) HMMPfam_LBP_BPI_CETP_C,HMMSmart_SM00329,superfamily_Bactericidal permeability-increasing protein BPI BPIFB4 149954 genome.wustl.edu 37 20 31688238 31688238 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182519.2 +1 validated p.E526K 0.155 96 0% 37 13.5% 0 - benign(0.014) tolerated(0.22) neutral(0.043) HMMPfam_LBP_BPI_CETP_C,HMMSmart_SM00329,superfamily_Bactericidal permeability-increasing protein BPI BPIFA1 51297 genome.wustl.edu 37 20 31828155 31828155 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016583.3 +1 reviewed p.H182R 0.819 630 0.2% 403 27.8% 0 - possibly_damaging(0.836) tolerated(0.35) neutral(0.340) HMMPfam_LBP_BPI_CETP,superfamily_Bactericidal permeability-increasing protein BPI BPIFB1 92747 genome.wustl.edu 37 20 31890200 31890200 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033197.2 +1 reviewed p.I321 0.001 348 0% 164 28.7% 6 0% - - - superfamily_Bactericidal permeability-increasing protein BPI CDK5RAP1 51654 genome.wustl.edu 37 20 31954807 31954807 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016408.2 -1 reviewed p.R467Q 0.997 249 0% 188 27.1% 30 50% benign(0.265) tolerated(0.23) neutral(0.069) HMMSmart_SM00729,superfamily_Radical SAM enzymes CDK5RAP1 51654 genome.wustl.edu 37 20 31967358 31967358 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016408.2 -1 reviewed p.R339H 1.000 163 0% 95 18.9% 27 37% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMSmart_SM00729,HMMPfam_Radical_SAM,superfamily_Radical SAM enzymes ZNF341 84905 genome.wustl.edu 37 20 32332916 32332916 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032819.3 +1 validated p.E50D 1.000 193 0% 117 13.7% 6 33.3% benign(0.019) tolerated(0.17) neutral(0.060) NULL ZNF341 84905 genome.wustl.edu 37 20 32336830 32336830 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032819.3 +1 validated p.A147 1.000 140 0% 63 19% 4 25% - - - NULL ZNF341 84905 genome.wustl.edu 37 20 32341133 32341133 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032819.3 +1 validated p.N215 0.925 29 0% 12 41.7% 4 25% - - - NULL PIGU 128869 genome.wustl.edu 37 20 33148678 33148678 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080476.4 -1 reviewed p.L434F 1.000 32 0% 14 35.7% 46 45.6% possibly_damaging(0.761) tolerated(0.14) deleterious(0.531) NULL NCOA6 23054 genome.wustl.edu 37 20 33329591 33329591 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014071.2 -1 reviewed p.S1490L 1.000 197 0% 105 26.7% 39 46.1% probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL NCOA6 23054 genome.wustl.edu 37 20 33329849 33329849 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014071.2 -1 reviewed p.S1404Y 0.997 285 0% 143 32.2% 24 54.1% benign(0.255) deleterious(0) deleterious(0.471) NULL NCOA6 23054 genome.wustl.edu 37 20 33331077 33331077 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014071.2 -1 reviewed p.A995T 1.000 94 0% 66 22.7% 29 20.6% possibly_damaging(0.888) deleterious(0.04) deleterious(0.696) NULL NCOA6 23054 genome.wustl.edu 37 20 33338167 33338167 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014071.2 -1 reviewed p.G611C 1.000 170 0% 86 40.7% 21 52.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL NCOA6 23054 genome.wustl.edu 37 20 33345024 33345024 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014071.2 -1 reviewed p.G509 1.000 371 0.3% 206 31.1% 6 16.6% - - - NULL GGT7 2686 genome.wustl.edu 37 20 33444645 33444645 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178026.2 -1 reviewed p.A356T 0.960 53 0% 23 21.7% 18 16.6% benign(0.002) tolerated(0.23) neutral(0.042) HMMPfam_G_glu_transpept GGT7 2686 genome.wustl.edu 37 20 33449342 33449342 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178026.2 -1 reviewed p.D194V 1.000 196 0% 85 27.1% 4 75% possibly_damaging(0.494) deleterious(0.01) deleterious(0.570) HMMPfam_G_glu_transpept ACSS2 55902 genome.wustl.edu 37 20 33470666 33470666 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018677.3 +1 reviewed p.N83T 1.000 248 0.8% 164 36.6% 19 26.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF56801 ACSS2 55902 genome.wustl.edu 37 20 33513958 33513958 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018677.3 +1 reviewed p.A593T 0.935 477 0.2% 253 29.2% 68 47% benign(0.248) tolerated(0.2) neutral(0.074) HMMPfam_AMP-binding,superfamily_SSF56801 GSS 2937 genome.wustl.edu 37 20 33539538 33539538 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000178.2 -1 reviewed p.T40A 1.000 36 0% 28 21.4% 70 48.5% benign(0) tolerated(0.51) neutral(0.009) HMMPfam_GSH_synth_ATP,superfamily_SSF56059 EDEM2 55741 genome.wustl.edu 37 20 33714066 33714066 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018217.2 -1 validated p.W319* 1.000 139 0% 69 24.6% 15 13.3% - - - HMMPfam_Glyco_hydro_47,superfamily_Seven-hairpin glycosidases GDF5 8200 genome.wustl.edu 37 20 34022222 34022222 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000557.2 -1 reviewed p.R331C 0.976 35 2.9% 20 30% 1 0% possibly_damaging(0.755) deleterious(0) deleterious(0.723) HMMPfam_TGFb_propeptide CPNE1 8904 genome.wustl.edu 37 20 34220548 34220548 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003915.4 -1 reviewed p.R72H 1.000 732 0.1% 414 28.3% 112 50% benign(0) tolerated(0.51) neutral(0.009) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB C20orf4 25980 genome.wustl.edu 37 20 34828428 34828428 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015511.3 +1 predicted p.T213M 0.721 174 0% 108 27.8% 49 42.8% possibly_damaging(0.861) tolerated(0.1) deleterious(0.619) HMMPfam_AAR2 C20orf4 25980 genome.wustl.edu 37 20 34832753 34832753 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015511.3 +1 predicted p.L298I 1.000 203 0.5% 101 36.6% 53 52.8% probably_damaging(0.954) tolerated(0.11) deleterious(0.669) HMMPfam_AAR2 DLGAP4 22839 genome.wustl.edu 37 20 35125434 35125434 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014902.4 +1 reviewed p.A659T 0.876 125 0.8% 68 30.9% 59 44% benign(0.002) tolerated(0.62) neutral(0.004) HMMPfam_GKAP C20orf118 140711 genome.wustl.edu 37 20 35504591 35504591 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080628.1 +1 predicted p.R5H 0.756 83 0% 54 37% 0 - possibly_damaging(0.922) deleterious(0.01) deleterious(0.777) NULL C20orf118 140711 genome.wustl.edu 37 20 35517672 35517672 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080628.1 +1 predicted p.W177C 0.999 226 0% 121 20.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TLD,HMMSmart_TLDc SAMHD1 25939 genome.wustl.edu 37 20 35559208 35559208 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015474.3 -1 reviewed p.R194* 0.887 450 0.2% 306 11.4% 74 2.7% - - - HMMSmart_HDc,HMMPfam_HD,superfamily_SSF109604 RPN2 6185 genome.wustl.edu 37 20 35826803 35826803 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002951.3 +1 reviewed p.A71S 1.000 429 0% 249 27.7% 550 46.3% possibly_damaging(0.918) tolerated(0.06) deleterious(0.691) HMMPfam_Ribophorin_II CTNNBL1 56259 genome.wustl.edu 37 20 36431379 36431379 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030877.3 +1 reviewed p.T381I 1.000 163 0% 126 22.2% 32 25% possibly_damaging(0.925) deleterious(0) deleterious(0.818) superfamily_ARM repeat TTI1 9675 genome.wustl.edu 37 20 36641283 36641283 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014657.1 -1 predicted p.E312D 0.863 285 0% 185 13.5% 16 18.7% benign(0.005) tolerated(0.27) neutral(0.034) superfamily_ARM-type_fold TTI1 9675 genome.wustl.edu 37 20 36641946 36641946 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014657.1 -1 predicted p.E91D 0.115 223 0% 123 26.8% 13 53.8% benign(0) tolerated(0.52) neutral(0.009) superfamily_ARM-type_fold TGM2 7052 genome.wustl.edu 37 20 36766685 36766685 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004613.2 -1 reviewed p.S482N 0.075 186 0% 80 37.5% 53 3.7% benign(0) tolerated(0.5) neutral(0.010) HMMPfam_Transglut_C,superfamily_Transglutaminase two C-terminal domains FAM83D 81610 genome.wustl.edu 37 20 37580570 37580570 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030919.2 +1 validated p.A419T 0.656 123 0% 64 31.2% 25 40% benign(0.048) deleterious(0.04) neutral(0.352) NULL DHX35 60625 genome.wustl.edu 37 20 37653938 37653938 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021931.2 +1 reviewed p.A579 0.000 572 0% 361 13.3% 8 12.5% - - - NULL MAFB 9935 genome.wustl.edu 37 20 39317238 39317238 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005461.3 -1 reviewed p.L85M 1.000 48 0% 19 26.3% 29 17.2% probably_damaging(0.962) deleterious(0.01) deleterious(0.810) HMMPfam_Maf_N PLCG1 5335 genome.wustl.edu 37 20 39794395 39794395 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002660.2 +1 reviewed p.T576 0.134 47 0% 26 23.1% 30 30% - - - HMMPfam_SH2,HMMSmart_SH2,HMMSmart_PH,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_SSF50729,superfamily_SSF55550 ZHX3 23051 genome.wustl.edu 37 20 39831625 39831625 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000421422 -1 known p.P353S 0.933 341 0% 197 25.9% 4 25% - - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like ZHX3 23051 genome.wustl.edu 37 20 39832348 39832348 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000421422 -1 known p.A112T 0.593 157 0% 74 29.7% 3 0% - - - NULL ZHX3 23051 genome.wustl.edu 37 20 39833479 39833479 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015035.3 -1 reviewed p.E26D 0.997 163 0.6% 101 26.7% 2 100% probably_damaging(0.965) tolerated(0.19) neutral(0.456) NULL CHD6 84181 genome.wustl.edu 37 20 40033729 40033729 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032221.3 -1 reviewed p.P2551L 0.787 158 0% 84 29.8% 31 22.5% benign(0.411) tolerated(0.05) deleterious(0.478) NULL CHD6 84181 genome.wustl.edu 37 20 40050051 40050051 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032221.3 -1 reviewed p.D1742Y 0.003 339 0% 148 27% 10 50% benign(0.242) deleterious(0) deleterious(0.469) NULL CHD6 84181 genome.wustl.edu 37 20 40050176 40050176 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032221.3 -1 reviewed p.P1700H 0.998 243 0.8% 125 27.2% 14 42.8% probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL CHD6 84181 genome.wustl.edu 37 20 40079605 40079605 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032221.3 -1 reviewed p.L1222I 1.000 148 0% 104 29.8% 14 50% probably_damaging(0.999) tolerated(0.17) deleterious(0.549) NULL CHD6 84181 genome.wustl.edu 37 20 40086062 40086062 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032221.3 -1 reviewed p.A891T 1.000 76 0% 43 20.9% 8 25% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases PTPRT 11122 genome.wustl.edu 37 20 40727176 40727176 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133170.3 -1 reviewed p.A1263V 0.997 100 0% 57 35.1% 0 - possibly_damaging(0.49) deleterious(0.05) deleterious(0.508) HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II PTPRT 11122 genome.wustl.edu 37 20 41408886 41408886 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133170.3 -1 reviewed p.D180 1.000 300 0.3% 216 29.6% 0 - - - - HMMPfam_MAM,HMMSmart_SM00137 LOC100287002 100287002 genome.wustl.edu 37 20 42087916 42087916 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002343704.1 -1 model p.G429D 1.000 124 0% 53 18.9% 38 57.8% benign(0.01) deleterious(0) neutral(0.445) NULL SGK2 10110 genome.wustl.edu 37 20 42203580 42203580 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016276.3 +1 reviewed p.P270H 1.000 47 0% 35 14.3% 1 0% probably_damaging(0.985) deleterious(0.01) deleterious(0.838) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SGK2 10110 genome.wustl.edu 37 20 42205014 42205014 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016276.3 +1 reviewed p.D342Y 1.000 91 1.1% 62 29% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SGK2 10110 genome.wustl.edu 37 20 42213499 42213499 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016276.3 +1 reviewed p.P376H 1.000 431 0% 215 26.5% 0 - benign(0.054) tolerated(0.07) neutral(0.323) HMMSmart_SM00133,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_C MYBL2 4605 genome.wustl.edu 37 20 42328640 42328640 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002466.2 +1 reviewed p.A303T 0.543 81 0% 42 28.6% 97 43.2% benign(0.009) tolerated(0.78) neutral(0.002) NULL MYBL2 4605 genome.wustl.edu 37 20 42331264 42331264 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002466.2 +1 reviewed p.S362 0.000 229 0% 120 19.2% 134 46.2% - - - NULL JPH2 57158 genome.wustl.edu 37 20 42815203 42815203 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020433.4 -1 reviewed p.V48A 1.000 154 0% 67 13.4% 0 - benign(0.196) tolerated(0.08) neutral(0.319) HMMPfam_MORN,superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain GDAP1L1 78997 genome.wustl.edu 37 20 42893229 42893229 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000445952 +1 known p.A210V 0.172 32 0% 14 50% 0 - - - - NULL HNF4A 3172 genome.wustl.edu 37 20 43042421 43042421 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000457.3 +1 reviewed p.A158V 1.000 76 0% 36 30.6% 5 0% probably_damaging(1) tolerated(0.11) deleterious(0.772) superfamily_Nuclear receptor ligand-binding domain ADA 100 genome.wustl.edu 37 20 43252948 43252948 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000022.2 -1 reviewed p.E167 1.000 69 0% 25 36% 1 100% - - - HMMPfam_A_deaminase,superfamily_SSF51556 PABPC1L 80336 genome.wustl.edu 37 20 43552831 43552831 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001124756.1 +1 provisional p.D302 0.994 218 0% 81 17.3% 3 33.3% - - - HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 PABPC1L 80336 genome.wustl.edu 37 20 43559189 43559189 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001124756.1 +1 provisional p.N354S 1.000 497 0% 249 30.9% 9 11.1% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 STK4 6789 genome.wustl.edu 37 20 43607201 43607201 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006282.2 +1 reviewed p.Q78 1.000 385 0% 249 12% 4 0% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SEMG2 6407 genome.wustl.edu 37 20 43850369 43850369 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003008.2 +1 reviewed p.L32 0.001 478 0% 318 25.2% 0 - - - - HMMPfam_Semenogelin SEMG2 6407 genome.wustl.edu 37 20 43851617 43851617 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003008.2 +1 reviewed p.N448 0.000 439 0% 243 24.7% 0 - - - - HMMPfam_Semenogelin SEMG2 6407 genome.wustl.edu 37 20 43851910 43851910 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003008.2 +1 reviewed p.Y546C 0.000 296 0% 172 26.7% 0 - possibly_damaging(0.887) tolerated(0.09) deleterious(0.643) HMMPfam_Semenogelin TP53TG5 27296 genome.wustl.edu 37 20 44003798 44003798 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014477.2 -1 validated p.R217* 0.513 124 0% 55 14.5% 6 16.6% - - - NULL WFDC8 90199 genome.wustl.edu 37 20 44207874 44207874 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_130896.2 -1 reviewed p.R5* 0.000 419 0.2% 308 27.9% 0 - - - - NULL DNTTIP1 116092 genome.wustl.edu 37 20 44422571 44422571 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052951.2 +1 validated p.P63H 1.000 208 0% 121 30.6% 26 34.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TNNC2 7125 genome.wustl.edu 37 20 44453018 44453018 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003279.2 -1 reviewed p.F76S 1.000 142 0% 59 15.3% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand ACOT8 10005 genome.wustl.edu 37 20 44483900 44483900 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000457981 -1 known p.A14V 1.000 78 0% 29 24.1% 18 33.3% - - - superfamily_Thioesterase/thiol ester dehydrase-isomerase ZSWIM3 140831 genome.wustl.edu 37 20 44507119 44507119 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080752.2 +1 validated p.R641H 1.000 189 0% 99 29.3% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZSWIM1 90204 genome.wustl.edu 37 20 44512244 44512244 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080603.4 +1 validated p.A338V 0.910 222 0% 118 31.4% 15 46.6% probably_damaging(0.995) deleterious(0.03) deleterious(0.822) NULL PCIF1 63935 genome.wustl.edu 37 20 44574380 44574380 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022104.3 +1 validated p.R400H 1.000 57 0% 25 48% 44 56.8% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) NULL ZNF335 63925 genome.wustl.edu 37 20 44582538 44582538 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022095.3 -1 reviewed p.G831D 0.262 16 0.000 7 0.571 6 16.6% benign(0.005) deleterious(0) neutral(0.445) NULL ZNF335 63925 genome.wustl.edu 37 20 44589333 44589333 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022095.3 -1 reviewed p.G568 0.999 107 0.9% 54 24.1% 20 45% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MMP9 4318 genome.wustl.edu 37 20 44639644 44639644 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004994.2 +1 reviewed p.A202T 1.000 234 0% 122 36.9% 19 0% possibly_damaging(0.893) tolerated(0.08) deleterious(0.652) "HMMPfam_Peptidase_M10,HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain" MMP9 4318 genome.wustl.edu 37 20 44639849 44639849 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004994.2 +1 reviewed p.R239 1.000 252 0% 104 42.3% 10 0% - - - "HMMPfam_fn2,HMMSmart_SM00059,PatternScan_FN2_1,HMMPfam_Peptidase_M10,HMMSmart_SM00235,superfamily_Kringle-like,superfamily_Metalloproteases (""zincins"") catalytic domain" MMP9 4318 genome.wustl.edu 37 20 44640921 44640921 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004994.2 +1 reviewed p.S381 0.000 83 0% 47 27.7% 12 0% - - - "HMMPfam_fn2,HMMSmart_SM00059,PatternScan_FN2_1,HMMPfam_Peptidase_M10,HMMSmart_SM00235,superfamily_Kringle-like,superfamily_Metalloproteases (""zincins"") catalytic domain" SLC12A5 57468 genome.wustl.edu 37 20 44663596 44663596 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001134771.1 +1 reviewed p.N44T 1.000 156 0% 109 31.2% 0 - benign(0.001) tolerated(0.23) neutral(0.042) NULL SLC12A5 57468 genome.wustl.edu 37 20 44685152 44685152 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001134771.1 +1 reviewed p.G1043D 0.999 170 0% 78 33.3% 0 - benign(0) tolerated(0.44) neutral(0.013) NULL NCOA5 57727 genome.wustl.edu 37 20 44699021 44699021 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020967.2 -1 reviewed p.H65Y 0.999 457 0% 250 30.8% 25 36% unknown(0) tolerated(0.14) - NULL CDH22 64405 genome.wustl.edu 37 20 44869839 44869839 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021248.1 -1 reviewed p.G105S 1.000 56 0% 25 28% 0 - probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like ELMO2 63916 genome.wustl.edu 37 20 45004381 45004381 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133171.3 -1 reviewed p.L286I 1.000 393 0% 179 22.9% 20 30% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ELMO2 63916 genome.wustl.edu 37 20 45017802 45017802 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133171.3 -1 reviewed p.L101 1.000 338 0.3% 224 20.5% 15 33.3% - - - superfamily_ARM repeat ZNF840 100130863 genome.wustl.edu 37 20 45093592 45093592 + Silent SNP G G A rs144928738 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_001722110.1 +1 model p.S162 0.156 107 0% 60 28.3% 0 - - - - NULL ZMYND8 23613 genome.wustl.edu 37 20 45839532 45839532 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000446994 -1 known p.G692E 1.000 141 0% 75 10.7% 65 10.7% - - - NULL ZMYND8 23613 genome.wustl.edu 37 20 45874830 45874830 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_183047.1 -1 reviewed p.D736Y 1.000 291 0% 158 28.5% 33 36.3% probably_damaging(1) tolerated(0.09) deleterious(0.796) NULL ZMYND8 23613 genome.wustl.edu 37 20 45875122 45875122 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000467200 -1 known p.G546* 0.171 422 0% 205 27.3% 39 43.5% benign(0) tolerated(0.09) neutral(0.296) NULL ZMYND8 23613 genome.wustl.edu 37 20 45920611 45920611 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_183047.1 -1 reviewed p.V197I 1.000 100 0% 61 31.1% 24 37.5% probably_damaging(0.984) deleterious(0.01) deleterious(0.836) HMMPfam_Bromodomain,HMMSmart_BROMO,superfamily_Bromodomain SULF2 55959 genome.wustl.edu 37 20 46365676 46365676 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018837.3 -1 validated p.Q62H 1.000 156 0% 69 11.6% 16 0% probably_damaging(0.979) deleterious(0.01) deleterious(0.828) HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like PREX1 57580 genome.wustl.edu 37 20 47248880 47248880 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020820.3 -1 reviewed p.E1487D 0.999 123 0% 51 27.5% 11 0% unknown(0) - - NULL PREX1 57580 genome.wustl.edu 37 20 47265846 47265846 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020820.3 -1 reviewed p.Q1099H 1.000 63 0% 33 42.4% 7 42.8% benign(0.293) tolerated(0.06) neutral(0.413) NULL PREX1 57580 genome.wustl.edu 37 20 47309257 47309257 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020820.3 -1 reviewed p.R330Q 0.999 199 0% 130 34.6% 5 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like ARFGEF2 10564 genome.wustl.edu 37 20 47569406 47569406 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006420.2 +1 reviewed p.R196 1.000 238 0% 127 30.7% 3 33.3% - - - superfamily_ARM-type_fold ARFGEF2 10564 genome.wustl.edu 37 20 47570297 47570297 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006420.2 +1 reviewed p.A270T 0.000 207 0% 72 9.7% 3 0% benign(0) tolerated(0.75) neutral(0.002) superfamily_ARM-type_fold ARFGEF2 10564 genome.wustl.edu 37 20 47589814 47589814 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006420.2 +1 reviewed p.P553H 1.000 159 0% 73 31.5% 9 66.6% possibly_damaging(0.924) deleterious(0.01) deleterious(0.778) superfamily_ARM-type_fold ARFGEF2 10564 genome.wustl.edu 37 20 47591343 47591343 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006420.2 +1 reviewed p.S569F 1.000 77 0% 44 18.2% 8 37.5% probably_damaging(0.976) deleterious(0) deleterious(0.863) superfamily_ARM-type_fold ARFGEF2 10564 genome.wustl.edu 37 20 47611135 47611135 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006420.2 +1 reviewed p.G1041S 0.998 121 0% 73 24.7% 14 57.1% benign(0.004) tolerated(0.3) neutral(0.029) superfamily_ARM-type_fold ARFGEF2 10564 genome.wustl.edu 37 20 47628512 47628512 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006420.2 +1 reviewed p.A1270D 1.000 440 0% 287 33.1% 28 57.1% possibly_damaging(0.95) deleterious(0.02) deleterious(0.776) superfamily_ARM-type_fold CSE1L 1434 genome.wustl.edu 37 20 47707475 47707475 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001316.2 +1 reviewed p.E761K 1.000 212 0% 131 33.6% 176 42% benign(0.212) tolerated(0.25) neutral(0.057) HMMPfam_CAS_CSE1,superfamily_ARM repeat ZNFX1 57169 genome.wustl.edu 37 20 47882692 47882692 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021035.2 -1 validated p.A661D 1.000 274 0% 165 12.7% 9 11.1% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases PTGIS 5740 genome.wustl.edu 37 20 48156217 48156217 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000961.3 -1 reviewed p.R188H 0.072 27 0% 14 28.6% 0 - benign(0.004) tolerated(0.22) neutral(0.042) superfamily_Cytochrome_P450 PTGIS 5740 genome.wustl.edu 37 20 48164425 48164425 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000961.3 -1 reviewed p.V110 1.000 308 0% 166 24.7% 2 0% - - - superfamily_Cytochrome_P450 SNAI1 6615 genome.wustl.edu 37 20 48604434 48604434 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005985.2 +1 reviewed p.H212Q 1.000 96 0% 48 27.1% 7 14.2% benign(0.109) deleterious(0) neutral(0.453) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 PTPN1 5770 genome.wustl.edu 37 20 49197851 49197851 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002827.2 +1 reviewed p.R380* 0.000 52 0% 32 25% 21 23.8% - - - NULL ADNP 23394 genome.wustl.edu 37 20 49508678 49508678 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015339.2 -1 reviewed p.A858V 0.994 425 0% 204 27.9% 67 43.2% benign(0) tolerated(0.1) neutral(0.286) NULL ADNP 23394 genome.wustl.edu 37 20 49509657 49509657 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015339.2 -1 reviewed p.R532W 1.000 308 0% 201 31.3% 66 57.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 MOCS3 27304 genome.wustl.edu 37 20 49575894 49575894 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014484.3 +1 reviewed p.R172Q 1.000 98 0% 46 30.4% 30 40% benign(0.002) tolerated(0.74) neutral(0.002) HMMPfam_ThiF,superfamily_MoeB ATP9A 10079 genome.wustl.edu 37 20 50290774 50290774 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006045.1 -1 validated p.V319F 1.000 187 0.5% 138 30.4% 10 40% possibly_damaging(0.908) deleterious(0) deleterious(0.806) NULL ATP9A 10079 genome.wustl.edu 37 20 50290824 50290824 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006045.1 -1 validated p.C302Y 1.000 200 0% 145 24.8% 10 50% benign(0) tolerated(1) - NULL ZFP64 55734 genome.wustl.edu 37 20 50701703 50701703 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_199427.2 -1 validated p.C444Y 1.000 68 0% 33 24.2% 5 40% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZFP64 55734 genome.wustl.edu 37 20 50769437 50769437 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018197.2 -1 validated p.A432T 0.999 131 0% 43 23.3% 26 42.3% probably_damaging(1) tolerated(0.15) deleterious(0.741) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF217 7764 genome.wustl.edu 37 20 52192455 52192455 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006526.2 -1 validated p.G950C 0.001 115 0% 50 26% 31 41.9% probably_damaging(0.998) tolerated(0.07) deleterious(0.793) NULL CBLN4 140689 genome.wustl.edu 37 20 54573767 54573767 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080617.4 -1 reviewed p.A151V 1.000 378 0% 192 26.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_C1q,HMMSmart_C1Q,superfamily_TNF_like MC3R 4159 genome.wustl.edu 37 20 54824264 54824264 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019888.3 +1 reviewed p.S122F 1.000 335 0% 175 20% 0 - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like FAM210B 116151 genome.wustl.edu 37 20 54941235 54941235 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080821.2 +1 validated p.H157Q 1.000 110 0% 73 13.7% 30 20% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_DUF1279 CSTF1 1477 genome.wustl.edu 37 20 54972782 54972782 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001033521.1 +1 reviewed p.T177M 1.000 204 0% 114 13.2% 30 20% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 CASS4 57091 genome.wustl.edu 37 20 55027243 55027243 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020356.3 +1 validated p.I337 0.001 181 0% 94 34% 0 - - - - NULL TFAP2C 7022 genome.wustl.edu 37 20 55208570 55208570 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003222.3 +1 reviewed p.R250* 1.000 77 0% 48 12.5% 1 0% - - - HMMPfam_TF_AP-2 TFAP2C 7022 genome.wustl.edu 37 20 55211672 55211672 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003222.3 +1 reviewed p.A310D 1.000 223 0% 122 12.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_TF_AP-2 BMP7 655 genome.wustl.edu 37 20 55748272 55748272 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001719.2 -1 reviewed p.A377V 1.000 94 0% 36 25% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TGF_beta,HMMSmart_SM00204,superfamily_Cystine-knot cytokines SPO11 23626 genome.wustl.edu 37 20 55917807 55917807 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012444.2 +1 reviewed p.L328V 1.000 76 0% 33 18.2% 0 - benign(0.151) tolerated(0.09) neutral(0.310) superfamily_DNA topoisomerase IV alpha subunit HMGB1P1 10357 genome.wustl.edu 37 20 56063784 56063784 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000452924 -1 known p.S100 0.996 469 0% 285 29.1% 46 2.1% - - - HMMPfam_HMG_box,HMMSmart_HMG,superfamily_HMG-box CTCFL 140690 genome.wustl.edu 37 20 56098940 56098940 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080618.2 -1 reviewed p.V108M 0.000 24 0% 16 25% 0 - benign(0.013) tolerated(0.34) neutral(0.024) NULL PCK1 5105 genome.wustl.edu 37 20 56139608 56139608 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002591.3 +1 reviewed p.A419 0.995 150 0% 90 23.3% 0 - - - - HMMPfam_PEPCK,superfamily_SSF53795 VAPB 9217 genome.wustl.edu 37 20 57019259 57019259 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004738.3 +1 reviewed p.V234I 0.280 540 0% 286 25.9% 51 33.3% unknown(0) tolerated(1) - NULL STX16 8675 genome.wustl.edu 37 20 57246221 57246221 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001433.1 +1 reviewed p.E220 0.062 180 0% 70 30% 25 36% unknown(0) tolerated(1) - superfamily_t-snare proteins TH1L 51497 genome.wustl.edu 37 20 57564011 57564011 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198976.1 +1 reviewed p.R156W 1.000 198 0% 94 31.9% 38 36.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TH1 ZNF831 128611 genome.wustl.edu 37 20 57766769 57766769 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178457.1 +1 provisional p.S232N 0.001 41 0% 22 22.7% 0 - possibly_damaging(0.68) deleterious(0.02) deleterious(0.625) NULL ZNF831 128611 genome.wustl.edu 37 20 57829314 57829314 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178457.1 +1 provisional p.S1517N 0.001 198 0% 101 30.7% 0 - possibly_damaging(0.946) deleterious(0) deleterious(0.835) NULL EDN3 1908 genome.wustl.edu 37 20 57876648 57876648 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000114.2 +1 reviewed p.P79H 0.000 55 1.8% 21 23.8% 0 - possibly_damaging(0.899) tolerated(0.09) deleterious(0.652) NULL SYCP2 10388 genome.wustl.edu 37 20 58456067 58456067 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014258.2 -1 reviewed p.R909M 0.705 39 0% 32 28.1% 0 - possibly_damaging(0.924) deleterious(0.01) deleterious(0.778) NULL SYCP2 10388 genome.wustl.edu 37 20 58489269 58489269 + Nonsense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014258.2 -1 reviewed p.C224* 1.000 99 0% 80 32.5% 0 - - - - NULL CDH26 60437 genome.wustl.edu 37 20 58564159 58564159 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_177980.2 +1 reviewed p.G408 0.000 400 0% 190 27.4% 0 - - - - HMMPfam_Cadherin,superfamily_Cadherin CDH26 60437 genome.wustl.edu 37 20 58569506 58569506 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_177980.2 +1 reviewed p.G543E 0.016 91 0% 57 22.8% 0 - benign(0.351) deleterious(0.02) deleterious(0.494) HMMPfam_Cadherin,superfamily_Cadherin CDH26 60437 genome.wustl.edu 37 20 58576463 58576463 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_177980.2 +1 reviewed p.S721R 0.000 59 0% 32 40.6% 0 - possibly_damaging(0.951) deleterious(0.05) deleterious(0.740) NULL C20orf197 284756 genome.wustl.edu 37 20 58645760 58645760 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173644.1 +1 predicted p.P60S 0.001 262 0% 125 22.4% 0 - possibly_damaging(0.863) - - NULL CDH4 1002 genome.wustl.edu 37 20 60485620 60485620 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001794.2 +1 reviewed p.R444H 1.000 39 0% 12 50% 0 - benign(0.169) tolerated(0.55) neutral(0.022) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin LOC100287640 100287640 genome.wustl.edu 37 20 60504686 60504686 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002343715.1 -1 model p.A106T 0.904 65 0% 25 24% 0 - - - - NULL LSM14B 149986 genome.wustl.edu 37 20 60706442 60706442 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144703.2 +1 validated p.D289G 0.997 22 0% 14 50% 55 45.4% possibly_damaging(0.818) tolerated(0.1) deleterious(0.595) NULL PSMA7 5688 genome.wustl.edu 37 20 60712432 60712432 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000442551 -1 known p.I153T 0.996 221 0% 110 31.8% 381 46.1% - - - superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) SS18L1 26039 genome.wustl.edu 37 20 60749619 60749619 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198935.1 +1 validated p.G361 0.999 73 0% 29 37.9% 14 78.5% - - - NULL GTPBP5 26164 genome.wustl.edu 37 20 60770957 60770957 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015666.3 +1 validated p.G102C 1.000 45 0% 13 30.8% 29 41.3% unknown(0) deleterious(0) - HMMPfam_GTP1_OBG,superfamily_GTP1_OBG_sub CABLES2 81928 genome.wustl.edu 37 20 60968534 60968534 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031215.2 -1 validated p.P281H 0.350 26 0% 18 38.9% 4 50% benign(0.006) tolerated(0.51) neutral(0.009) NULL C20orf166-AS1 253868 genome.wustl.edu 37 20 61143820 61143820 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000412495 -1 known p.A10T 0.000 70 0% 37 40.5% 0 - - - - NULL SLCO4A1 28231 genome.wustl.edu 37 20 61299853 61299853 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016354.3 +1 validated p.S612 0.997 28 0% 18 27.8% 0 - - - - HMMPfam_OATP,superfamily_MFS general substrate transporter DIDO1 11083 genome.wustl.edu 37 20 61526413 61526413 + Missense_Mutation SNP C C G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033081.1 -1 reviewed p.R773S 0.000 268 0% 152 27.6% 12 25% possibly_damaging(0.738) tolerated(0.1) deleterious(0.556) HMMPfam_TFIIS_M,HMMSmart_SM00510 DIDO1 11083 genome.wustl.edu 37 20 61541129 61541129 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033081.1 -1 reviewed p.S361 0.009 275 0% 130 17.7% 20 5% - - - NULL C20orf11 54994 genome.wustl.edu 37 20 61575032 61575032 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017896.2 +1 validated p.M167I 1.000 18 0% 13 38.5% 74 44.5% benign(0.157) deleterious(0.01) neutral(0.420) HMMSmart_CRA,HMMPfam_RanBPM_CRA SLC17A9 63910 genome.wustl.edu 37 20 61594020 61594020 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022082.3 +1 validated p.Y181C 1.000 46 0% 27 22.2% 2 0% benign(0.223) tolerated(0.12) neutral(0.283) HMMPfam_MFS_1,superfamily_MFS general substrate transporter SLC17A9 63910 genome.wustl.edu 37 20 61597012 61597012 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022082.3 +1 validated p.T332 0.125 119 0.8% 49 20.4% 0 - - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter YTHDF1 54915 genome.wustl.edu 37 20 61834757 61834757 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017798.3 -1 validated p.G179R 0.987 44 0% 19 21.1% 40 22.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL YTHDF1 54915 genome.wustl.edu 37 20 61835024 61835024 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017798.3 -1 validated p.G90R 1.000 95 0% 52 30.8% 58 56.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CHRNA4 1137 genome.wustl.edu 37 20 61982034 61982034 + Silent SNP C C T rs121912253 TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000744.5 -1 reviewed p.P243 0.016 34 2.9% 16 25% 0 - - - - superfamily_Neu_channel_TM,HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD RTEL1 51750 genome.wustl.edu 37 20 62305418 62305418 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032957.3 +1 reviewed p.P297 0.744 122 0.8% 71 12.7% 4 25% - - - NULL TPD52L2 7165 genome.wustl.edu 37 20 62520562 62520562 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_199360.1 +1 validated p.S189P 1.000 36 0% 19 26.3% 126 47.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TPD52 SAMD10 140700 genome.wustl.edu 37 20 62607060 62607060 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080621.4 -1 validated p.Q191* 1.000 41 0% 15 40% 9 33.3% - - - NULL PRPF6 24148 genome.wustl.edu 37 20 62632485 62632485 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012469.3 +1 reviewed p.A360V 1.000 120 0% 45 42.2% 75 21.3% benign(0.004) tolerated(0.34) neutral(0.023) superfamily_SSF48452 PRPF6 24148 genome.wustl.edu 37 20 62632577 62632577 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012469.3 +1 reviewed p.R391W 1.000 104 0% 57 26.3% 60 51.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_HAT,superfamily_SSF48452 PCMTD2 55251 genome.wustl.edu 37 20 62896671 62896671 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018257.2 +1 validated p.C157 0.749 247 0.4% 145 35.2% 34 29.4% - - - superfamily_S-adenosyl-L-methionine-dependent methyltransferases TPTE 7179 genome.wustl.edu 37 21 10908846 10908846 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_199261.2 -1 validated p.T500I 0.893 125 0% 85 11.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 TPTE 7179 genome.wustl.edu 37 21 10944786 10944786 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_199261.2 -1 validated p.R150G 0.050 520 0% 323 12.7% 0 - possibly_damaging(0.855) tolerated(0.34) neutral(0.353) superfamily_Voltage-gated potassium channels RBM11 54033 genome.wustl.edu 37 21 15599204 15599204 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144770.3 +1 validated p.W146R 0.883 365 0% 237 18.1% 1 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL RBM11 54033 genome.wustl.edu 37 21 15599549 15599549 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144770.3 +1 validated p.D261Y 1.000 369 0.3% 246 30.9% 0 - benign(0.202) deleterious(0.01) neutral(0.425) NULL NRIP1 8204 genome.wustl.edu 37 21 16337466 16337466 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003489.3 -1 reviewed p.E1016D 0.775 240 0% 120 18.3% 17 17.6% benign(0.016) tolerated(0.62) neutral(0.005) NULL TMPRSS15 5651 genome.wustl.edu 37 21 19715834 19715834 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002772.2 -1 reviewed p.V473I 0.981 277 0% 167 15.6% 0 - benign(0.111) deleterious(0.04) neutral(0.357) HMMPfam_MAM,HMMSmart_SM00137 TMPRSS15 5651 genome.wustl.edu 37 21 19725223 19725223 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002772.2 -1 reviewed p.S390P 0.990 354 0% 225 20.4% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_MAM,HMMSmart_SM00137 NCAM2 4685 genome.wustl.edu 37 21 22696733 22696733 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004540.2 +1 reviewed p.S217Y 1.000 288 0% 210 27.1% 1 100% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_I-set,superfamily_SSF48726 NCAM2 4685 genome.wustl.edu 37 21 22838986 22838986 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004540.2 +1 reviewed p.V572I 1.000 135 0% 73 34.2% 1 0% probably_damaging(0.981) tolerated(0.97) neutral(0.425) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like NCAM2 4685 genome.wustl.edu 37 21 22910175 22910175 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004540.2 +1 reviewed p.P804H 1.000 90 0% 53 30.2% 0 - probably_damaging(0.965) deleterious(0.01) deleterious(0.812) NULL MRPL39 54148 genome.wustl.edu 37 21 26960065 26960065 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080794.3 -1 reviewed p.S336P 0.047 295 0% 157 31.8% 1 0% unknown(0) - - NULL APP 351 genome.wustl.edu 37 21 27264105 27264105 + Missense_Mutation SNP T T C rs63750643 TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000484.3 -1 reviewed p.T714A 1.000 224 0% 127 29.1% 438 77.1% benign(0.03) deleterious(0.01) neutral(0.407) HMMPfam_APP_amyloid APP 351 genome.wustl.edu 37 21 27425570 27425570 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000484.3 -1 reviewed p.W150* 1.000 563 0.4% 317 31.2% 466 1% - - - HMMPfam_A4_EXTRA,HMMSmart_SM00006,superfamily_Amyloid beta a4 protein copper binding domain (domain 2) ADAMTS5 11096 genome.wustl.edu 37 21 28327121 28327121 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007038.3 -1 reviewed p.R392C 1.000 295 0% 162 29% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" ADAMTS5 11096 genome.wustl.edu 37 21 28338345 28338345 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007038.3 -1 reviewed p.A122 0.000 43 0% 15 26.7% 0 - - - - HMMPfam_Pep_M12B_propep LTN1 26046 genome.wustl.edu 37 21 30316872 30316872 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015565.2 -1 validated p.L1272P 1.000 229 0% 150 26% 9 66.6% probably_damaging(0.953) deleterious(0.01) deleterious(0.802) NULL LTN1 26046 genome.wustl.edu 37 21 30359221 30359221 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015565.2 -1 validated p.A26V 1.000 203 0% 122 23.8% 0 - probably_damaging(0.989) deleterious(0.02) deleterious(0.823) NULL RWDD2B 10069 genome.wustl.edu 37 21 30378971 30378971 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016940.2 -1 validated p.L243F 1.000 131 0% 62 17.7% 20 30% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_DUF1115 CCT8 10694 genome.wustl.edu 37 21 30435686 30435686 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006585.2 -1 validated p.I310V 0.998 165 0% 87 27.6% 254 42.9% benign(0.001) deleterious(0.04) neutral(0.349) HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like,superfamily_GroEL apical domain-like,superfamily_GroEL-intermediate domain like CCT8 10694 genome.wustl.edu 37 21 30439891 30439891 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006585.2 -1 validated p.L123M 0.998 208 0% 137 25.5% 148 51.3% benign(0.341) deleterious(0.03) deleterious(0.472) HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like CLDN17 26285 genome.wustl.edu 37 21 31538329 31538329 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012131.2 -1 reviewed p.R203C 0.000 279 0% 169 27.8% 0 - benign(0) tolerated(0.11) neutral(0.272) NULL CLDN8 9073 genome.wustl.edu 37 21 31587579 31587579 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_199328.2 -1 reviewed p.S222N 0.662 259 0% 141 38.3% 0 - probably_damaging(0.976) tolerated(0.13) deleterious(0.670) NULL CLDN8 9073 genome.wustl.edu 37 21 31587903 31587903 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_199328.2 -1 reviewed p.V114A 0.702 182 0% 89 32.6% 1 0% benign(0.001) tolerated(1) - HMMPfam_PMP22_Claudin KRTAP24-1 643803 genome.wustl.edu 37 21 31654815 31654815 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001085455.1 -1 validated p.R146C 0.000 351 0% 204 25.5% 0 - possibly_damaging(0.936) - - HMMPfam_PMG KRTAP13-1 140258 genome.wustl.edu 37 21 31768639 31768639 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181599.2 +1 validated p.S79T 0.151 256 0% 123 30.9% 0 - probably_damaging(0.957) tolerated(0.92) neutral(0.401) HMMPfam_PMG KRTAP19-5 337972 genome.wustl.edu 37 21 31874295 31874295 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181611.1 -1 provisional p.G38 0.025 392 0% 246 29.7% 0 - - - - NULL KRTAP19-8 728299 genome.wustl.edu 37 21 32410716 32410716 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001099219.1 -1 provisional p.G16V 0.016 855 0% 608 32.9% 0 - unknown(0) - - NULL TIAM1 7074 genome.wustl.edu 37 21 32492940 32492940 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003253.2 -1 validated p.D1508N 1.000 181 0% 96 26% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL SOD1 6647 genome.wustl.edu 37 21 33040872 33040872 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000454.4 +1 reviewed p.V149A 0.977 408 0% 205 32.7% 590 48.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Sod_Cu,superfamily_CuZn superoxide dismutase-like,PatternScan_SOD_CU_ZN_2 SCAF4 57466 genome.wustl.edu 37 21 33064182 33064182 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020706.2 -1 reviewed p.A559V 1.000 290 0% 190 26.8% 34 35.2% unknown(0) tolerated(0.1) - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD SCAF4 57466 genome.wustl.edu 37 21 33068988 33068988 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020706.2 -1 reviewed p.V285I 0.000 90 0% 57 35.1% 34 47% unknown(0) tolerated(0.08) - NULL SCAF4 57466 genome.wustl.edu 37 21 33074208 33074208 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020706.2 -1 reviewed p.V161F 0.986 178 0% 107 23.4% 23 43.4% unknown(0) deleterious(0.04) - NULL HUNK 30811 genome.wustl.edu 37 21 33371179 33371179 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014586.1 +1 validated p.S609 0.087 133 0% 62 30.6% 3 66.6% - - - NULL C21orf63 59271 genome.wustl.edu 37 21 33887271 33887271 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_058187.3 +1 validated p.D366G 0.967 223 0% 123 14.6% 2 0% benign(0.001) deleterious(0.04) neutral(0.349) NULL C21orf59 56683 genome.wustl.edu 37 21 33980027 33980027 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021254.1 -1 predicted e3-1 1.000 273 0% 140 17.1% 0 - - - - - SYNJ1 8867 genome.wustl.edu 37 21 34025630 34025630 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003895.3 -1 validated p.A948T 1.000 133 0% 57 22.8% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_DUF1866,superfamily_RNA-binding domain RBD GCFC1 94104 genome.wustl.edu 37 21 34116050 34116050 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016631.3 -1 reviewed p.L736F 0.995 123 0% 62 32.3% 23 43.4% possibly_damaging(0.83) deleterious(0.01) deleterious(0.721) HMMPfam_GCFC IFNAR2 3455 genome.wustl.edu 37 21 34632960 34632960 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207585.1 +1 reviewed p.V256 0.001 334 0.3% 188 13.8% 5 0% - - - NULL IFNAR2 3455 genome.wustl.edu 37 21 34635581 34635581 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207585.1 +1 reviewed p.D442N 0.001 725 0% 370 27.3% 8 12.5% probably_damaging(0.974) tolerated(0.27) neutral(0.450) NULL IL10RB 3588 genome.wustl.edu 37 21 34660477 34660477 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000628.3 +1 reviewed p.L239I 0.000 373 0% 202 30.7% 44 29.5% probably_damaging(0.981) tolerated(0.11) deleterious(0.697) NULL IFNGR2 3460 genome.wustl.edu 37 21 34804516 34804516 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005534.3 +1 reviewed p.S198 0.000 183 0% 102 27.5% 90 44.4% - - - HMMPfam_fn3,superfamily_Fibronectin type III CRYZL1 9946 genome.wustl.edu 37 21 34988888 34988888 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000413017 -1 known p.A95D 0.000 32 0% 22 18.2% 0 - unknown(0) tolerated(0.57) - superfamily_GroES_like MIR802 768219 genome.wustl.edu 37 21 37093088 37093088 + RNA SNP G G C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000390235 +1 known NULL 0.816 228 0% 128 30.5% 0 - - - - - DOPEY2 9980 genome.wustl.edu 37 21 37602804 37602804 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005128.2 +1 validated p.P574 0.000 208 0% 115 27.8% 4 50% - - - NULL DOPEY2 9980 genome.wustl.edu 37 21 37609603 37609603 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005128.2 +1 validated p.R889Q 0.985 136 0% 69 24.6% 18 66.6% benign(0.128) tolerated(0.34) neutral(0.034) NULL DOPEY2 9980 genome.wustl.edu 37 21 37626109 37626109 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005128.2 +1 validated p.D1721N 1.000 195 0% 119 11.8% 20 20% probably_damaging(1) tolerated(0.29) deleterious(0.529) NULL CHAF1B 8208 genome.wustl.edu 37 21 37759895 37759895 + Splice_Site SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005441.2 +1 reviewed e2-1 1.000 352 0% 148 25% 0 - - - - - HLCS 3141 genome.wustl.edu 37 21 38269246 38269246 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000411.5 -1 reviewed p.I455 0.396 173 0% 90 26.7% 11 54.5% - - - superfamily_SSF55681 BRWD1 54014 genome.wustl.edu 37 21 40568264 40568264 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033656.2 -1 reviewed p.R2244I 1.000 665 0% 419 26.7% 7 71.4% benign(0.001) deleterious(0) neutral(0.445) NULL BRWD1 54014 genome.wustl.edu 37 21 40568672 40568672 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018963.3 -1 reviewed p.P2108H 0.972 643 0% 424 10.6% 13 0% possibly_damaging(0.46) deleterious(0) deleterious(0.596) superfamily_WD40 repeat-like BRWD1 54014 genome.wustl.edu 37 21 40610455 40610455 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000455867 -1 known p.G510* 0.996 176 0% 150 28% 1 0% benign(0.001) tolerated(0.28) neutral(0.032) NULL WRB 7485 genome.wustl.edu 37 21 40762769 40762769 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004627.4 +1 reviewed p.T83M 0.999 73 0% 40 25% 41 36.5% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_CHD5 LCA5L 150082 genome.wustl.edu 37 21 40778045 40778045 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152505.3 -1 validated p.R592 0.000 200 0% 92 17.4% 2 50% - - - NULL DSCAM 1826 genome.wustl.edu 37 21 41514530 41514530 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001389.3 -1 validated p.L1121I 1.000 758 0% 362 28.5% 0 - benign(0.152) tolerated(0.72) neutral(0.015) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III MX2 4600 genome.wustl.edu 37 21 42778749 42778749 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002463.1 +1 reviewed p.M577L 0.005 214 0% 103 34% 3 0% benign(0) tolerated(0.39) neutral(0.016) HMMPfam_Dynamin_M MX1 4599 genome.wustl.edu 37 21 42823164 42823164 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001144925.1 +1 reviewed p.T501 0.001 542 0% 312 31.1% 7 0% - - - HMMPfam_Dynamin_M PRDM15 63977 genome.wustl.edu 37 21 43240515 43240515 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022115.3 -1 validated p.C1058 0.998 32 0% 11 45.5% 4 75% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 PRDM15 63977 genome.wustl.edu 37 21 43246376 43246376 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022115.3 -1 validated p.A889 0.995 157 0% 74 18.9% 2 50% - - - NULL PRDM15 63977 genome.wustl.edu 37 21 43291623 43291623 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022115.3 -1 validated p.R174H 0.000 44 0% 20 55% 0 - unknown(0) - - NULL ZNF295 49854 genome.wustl.edu 37 21 43411418 43411418 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098402.1 -1 validated p.E929D 1.000 139 0.7% 87 24.1% 5 20% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ABCG1 9619 genome.wustl.edu 37 21 43708047 43708047 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004915.3 +1 reviewed p.V341A 1.000 314 0.3% 142 31% 24 45.8% possibly_damaging(0.888) deleterious(0.03) deleterious(0.712) NULL TFF1 7031 genome.wustl.edu 37 21 43783437 43783437 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003225.2 -1 reviewed p.G55 0.834 68 0% 32 21.9% 3 0% - - - HMMPfam_Trefoil,HMMSmart_PD,superfamily_P_trefoil,PatternScan_P_TREFOIL WDR4 10785 genome.wustl.edu 37 21 44270184 44270184 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018669.4 -1 reviewed p.P405Q 0.001 236 0% 111 25.2% 22 36.3% benign(0.396) deleterious(0.02) deleterious(0.510) NULL HSF2BP 11077 genome.wustl.edu 37 21 45012134 45012134 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007031.1 -1 reviewed p.F256L 1.000 309 0% 152 23% 0 - benign(0.003) tolerated(1) - superfamily_ARM repeat AGPAT3 56894 genome.wustl.edu 37 21 45391351 45391351 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001037553.1 +1 reviewed p.Y249 0.988 177 0% 90 35.6% 27 29.6% - - - NULL TRAPPC10 7109 genome.wustl.edu 37 21 45511918 45511918 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003274.4 +1 reviewed p.T995 0.000 159 0.6% 100 15% 17 11.7% - - - NULL TRAPPC10 7109 genome.wustl.edu 37 21 45518284 45518284 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003274.4 +1 reviewed p.E1072G 0.985 201 0% 78 26.9% 22 27.2% benign(0.01) tolerated(0.11) neutral(0.272) NULL PWP2 5822 genome.wustl.edu 37 21 45546835 45546835 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005049.2 +1 validated p.F710Y 1.000 129 0% 51 25.5% 36 36.1% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_WD40,superfamily_WD40_like KRTAP10-9 386676 genome.wustl.edu 37 21 46047583 46047583 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198690.2 +1 validated p.Q165H 0.874 444 0.2% 222 26.1% 0 - unknown(0) tolerated(0.15) - NULL LOC100130599 100130599 genome.wustl.edu 37 21 46122509 46122509 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002343756.1 +1 model p.C255 1.000 248 0% 133 33.1% 0 - - - - HMMPfam_Keratin_B2 PTTG1IP 754 genome.wustl.edu 37 21 46271541 46271541 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000445724 -1 known p.A57V 0.841 181 0.6% 111 25.2% 181 40.3% unknown(0) - - NULL ADARB1 104 genome.wustl.edu 37 21 46596527 46596527 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015833.3 +1 validated p.T304M 1.000 119 0% 76 23.7% 3 0% possibly_damaging(0.526) tolerated(0.18) neutral(0.233) superfamily_dsRNA-binding domain-like LSS 4047 genome.wustl.edu 37 21 47641872 47641872 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001001438.2 -1 reviewed p.S149Y 1.000 186 0% 65 30.8% 29 34.4% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Prenyltrans,superfamily_Terp_cyc_toroid MCM3AP 8888 genome.wustl.edu 37 21 47676828 47676828 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003906.3 -1 reviewed p.C1269 1.000 20 0% 13 38.5% 32 31.2% - - - NULL PCNT 5116 genome.wustl.edu 37 21 47801609 47801609 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006031.5 +1 reviewed p.G1056C 0.259 350 0% 175 17.1% 5 80% probably_damaging(0.989) tolerated(0.11) deleterious(0.711) NULL PCNT 5116 genome.wustl.edu 37 21 47831244 47831244 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006031.5 +1 reviewed p.L1753 1.000 156 0% 77 26% 8 62.5% - - - NULL PCNT 5116 genome.wustl.edu 37 21 47860817 47860817 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006031.5 +1 reviewed p.A3148V 1.000 152 0% 74 24.3% 26 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_PACT_coil_coil DIP2A 23181 genome.wustl.edu 37 21 47931344 47931344 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015151.3 +1 reviewed p.P307S 1.000 36 0% 33 39.4% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PRMT2 3275 genome.wustl.edu 37 21 48071897 48071897 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000334494 +1 known p.S278 0.000 139 0% 77 23.4% 1 100% - - - NULL PRMT2 3275 genome.wustl.edu 37 21 48083406 48083406 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000458387 +1 known p.A256T 0.998 89 0% 41 17.1% 78 47.4% benign(0.002) deleterious(0.04) neutral(0.349) NULL LOC729057 729057 genome.wustl.edu 37 22 16123169 16123169 + RNA SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XR_042044.2 +1 model NULL 0.993 101 0% 60 10% 1 0% - - - - POTEH 23784 genome.wustl.edu 37 22 16287589 16287589 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001136213.1 -1 provisional p.G99 0.007 322 0% 137 10.9% 0 - - - - NULL OR11H1 81061 genome.wustl.edu 37 22 16448964 16448964 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005239.1 -1 provisional p.H281Y 0.007 1130 0% 831 21.7% 0 - benign(0.002) tolerated(1) - HMMPfam_7tm_1,superfamily_SSF81321 CCT8L2 150160 genome.wustl.edu 37 22 17072779 17072779 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014406.4 -1 validated p.G221V 0.138 109 0% 35 14.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like,superfamily_GroEL apical domain-like,superfamily_GroEL-intermediate domain like CECR2 27443 genome.wustl.edu 37 22 17983923 17983923 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000400573 +1 known p.T227A 1.000 162 0% 87 36.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SLC25A18 83733 genome.wustl.edu 37 22 18069980 18069980 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031481.1 +1 provisional p.R163H 0.979 264 0% 113 29.2% 1 100% benign(0.182) deleterious(0.01) neutral(0.422) superfamily_Mitoch_carrier,HMMPfam_Mito_carr TSSK2 23617 genome.wustl.edu 37 22 19119415 19119415 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_053006.4 +1 validated p.R168H 0.000 193 0% 90 17.8% 1 0% benign(0.015) tolerated(0.14) neutral(0.250) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DGCR14 8220 genome.wustl.edu 37 22 19127479 19127479 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022719.2 -1 reviewed p.S153R 1.000 129 0% 66 13.6% 19 15.7% possibly_damaging(0.857) tolerated(0.15) deleterious(0.572) HMMPfam_Es2 CLTCL1 8218 genome.wustl.edu 37 22 19230318 19230318 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007098.3 -1 reviewed p.R221C 0.998 355 0.3% 221 12.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Clathrin_propel,superfamily_Clathrin heavy-chain terminal domain HIRA 7290 genome.wustl.edu 37 22 19349269 19349269 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003325.3 -1 reviewed p.P654H 0.996 354 0.3% 167 20.4% 17 29.4% possibly_damaging(0.46) deleterious(0.03) deleterious(0.515) NULL MRPL40 64976 genome.wustl.edu 37 22 19422393 19422393 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003776.2 +1 reviewed p.P91H 0.999 264 0% 133 18.8% 67 47.7% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_MRP-L28 DGCR8 54487 genome.wustl.edu 37 22 20073529 20073529 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022720.5 +1 validated p.A15T 0.998 95 0% 36 25% 7 100% probably_damaging(0.959) tolerated(0.17) neutral(0.462) NULL USP41 373856 genome.wustl.edu 37 22 20723739 20723739 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_036729.7 -1 model p.S192P 0.271 127 0% 58 29.3% 3 0% probably_damaging(0.984) deleterious(0.02) deleterious(0.814) HMMPfam_UCH,superfamily_Cysteine proteinases KLHL22 84861 genome.wustl.edu 37 22 20819420 20819420 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032775.2 -1 validated p.N279 0.799 41 0% 25 32% 33 36.3% - - - superfamily_Galactose oxidase central domain MED15 51586 genome.wustl.edu 37 22 20921038 20921038 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001003891.1 +1 reviewed p.Q325H 1.000 162 0.6% 67 16.4% 55 21.8% unknown(0) - - NULL SERPIND1 3053 genome.wustl.edu 37 22 21134327 21134327 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000185.3 +1 reviewed p.Y243D 0.942 772 0.1% 418 26.6% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins CRKL 1399 genome.wustl.edu 37 22 21304087 21304087 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005207.3 +1 reviewed p.T289M 1.000 421 0.2% 216 29.6% 23 52.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_SH3_2 AIFM3 150209 genome.wustl.edu 37 22 21332006 21332006 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144704.2 +1 validated p.G434C 0.999 76 0% 37 24.3% 1 0% probably_damaging(0.984) deleterious(0.01) deleterious(0.836) HMMPfam_Pyr_redox_2,superfamily_FAD/NAD(P)-binding domain LZTR1 8216 genome.wustl.edu 37 22 21351071 21351071 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006767.3 +1 reviewed p.T769M 1.000 30 0% 19 21.1% 35 54.2% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_POZ domain FLJ39582 353117 genome.wustl.edu 37 22 21363761 21363761 + RNA SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NR_027051.1 +1 validated NULL 0.000 42 0% 24 54.2% 2 0% - - - - GGT2 728441 genome.wustl.edu 37 22 21570344 21570344 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_001129377.2 -1 model p.V206 0.999 29 0% 15 40% 2 0% - - - HMMPfam_G_glu_transpept MAPK1 5594 genome.wustl.edu 37 22 22160270 22160270 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002745.4 -1 reviewed p.L121I 1.000 264 0% 175 11.4% 70 12.8% benign(0.004) deleterious(0.02) neutral(0.383) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_MAPK,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase TOP3B 8940 genome.wustl.edu 37 22 22314080 22314080 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000457270 -1 known p.A356V 0.979 55 0% 32 43.8% 14 28.5% - - - superfamily_Prokaryotic type I DNA topoisomerase,HMMPfam_Topoisom_bac TOP3B 8940 genome.wustl.edu 37 22 22314100 22314100 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003935.3 -1 reviewed p.L555 1.000 49 0% 34 32.4% 12 33.3% - - - superfamily_Prokaryotic type I DNA topoisomerase,HMMPfam_Topoisom_bac TOP3B 8940 genome.wustl.edu 37 22 22324609 22324609 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003935.3 -1 reviewed p.D185G 1.000 31 0% 10 50% 25 28% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Prokaryotic type I DNA topoisomerase,HMMSmart_SM00436,HMMPfam_Topoisom_bac IGLV5-52 28779 genome.wustl.edu 37 22 22673341 22673341 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000390289 +1 known p.S45N 0.959 624 0% 283 24.4% 11 63.6% benign(0.061) tolerated(0.07) neutral(0.323) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin IGLV5-37 28783 genome.wustl.edu 37 22 22781913 22781913 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000390300 +1 known p.L11 0.362 41 0% 28 21.4% 0 - - - - NULL ZNF280A 129025 genome.wustl.edu 37 22 22869880 22869880 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080740.3 -1 reviewed p.E25D 0.000 727 0% 412 25.5% 0 - benign(0.002) tolerated(0.51) neutral(0.009) NULL PRAME 23532 genome.wustl.edu 37 22 22890512 22890512 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006115.3 -1 reviewed p.C503R 0.893 281 0% 173 27.2% 148 48.6% possibly_damaging(0.935) deleterious(0) deleterious(0.825) NULL IGLV2-33 28811 genome.wustl.edu 37 22 22930928 22930928 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000390302 +1 known p.C41 0.147 705 0.1% 369 30.9% 0 - - - - HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin IGLV3-27 28791 genome.wustl.edu 37 22 23011260 23011260 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000390304 +1 known p.S108Y 0.000 85 0% 52 23.1% 0 - probably_damaging(0.983) deleterious(0) deleterious(0.873) HMMSmart_SM00406,HMMSmart_SM00409,superfamily_Immunoglobulin IGLV3-16 28799 genome.wustl.edu 37 22 23090361 23090361 + Silent SNP C C T rs193183787 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000390311 +1 known p.D100 0.943 269 0% 118 33.9% 22 0% - - - HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin IGLV3-12 28802 genome.wustl.edu 37 22 23114877 23114877 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000390313 +1 known p.A50D 0.000 60 0% 40 25% 0 - benign(0) tolerated(0.08) neutral(0.300) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin IGLV4-3 28786 genome.wustl.edu 37 22 23213904 23213904 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000390318 +1 known p.P21S 0.000 267 0% 122 36.9% 0 - probably_damaging(0.996) tolerated(0.97) neutral(0.462) HMMPfam_V-set,superfamily_Immunoglobulin GNAZ 2781 genome.wustl.edu 37 22 23438543 23438543 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002073.2 +1 reviewed p.A221S 0.998 126 0.8% 53 11.3% 4 0% benign(0.293) deleterious(0.02) deleterious(0.474) HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases RTDR1 27156 genome.wustl.edu 37 22 23476313 23476313 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000439064 -1 known p.R32* 0.000 84 0% 47 38.3% 2 50% - - - NULL BCR 613 genome.wustl.edu 37 22 23615878 23615878 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004327.3 +1 reviewed p.L678I 1.000 90 0% 29 44.8% 59 40.6% benign(0.066) tolerated(0.1) neutral(0.291) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) LOC649264 649264 genome.wustl.edu 37 22 23701861 23701861 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_001131286.2 -1 model p.S276I 0.027 194 0% 90 34.4% 0 - - - - HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases IGLL1 3543 genome.wustl.edu 37 22 23915516 23915516 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020070.2 -1 reviewed p.S193R 0.798 309 0% 172 21.5% 0 - probably_damaging(1) tolerated(0.11) deleterious(0.772) PatternScan_IG_MHC,HMMPfam_C1-set,HMMSmart_IGc1,superfamily_SSF48726 C22orf43 51233 genome.wustl.edu 37 22 23956333 23956333 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016449.2 -1 provisional p.D204N 0.001 145 0% 82 29.3% 0 - possibly_damaging(0.605) - - NULL ZNF70 7621 genome.wustl.edu 37 22 24086398 24086398 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021916.2 -1 provisional p.C310 0.537 363 0% 186 29% 1 100% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 SMARCB1 6598 genome.wustl.edu 37 22 24134006 24134006 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003073.3 +1 reviewed p.R53* 1.000 196 0% 96 38.5% 79 10.1% - - - NULL DERL3 91319 genome.wustl.edu 37 22 24179965 24179965 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001135751.1 -1 reviewed p.R135H 1.000 19 0.000 8 0.500 31 9.6% probably_damaging(0.991) tolerated(0.08) deleterious(0.744) HMMPfam_DER1 CABIN1 23523 genome.wustl.edu 37 22 24456597 24456597 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012295.2 +1 reviewed p.H537R 1.000 54 0% 21 38.1% 25 44% probably_damaging(1) tolerated(0.34) deleterious(0.523) NULL CABIN1 23523 genome.wustl.edu 37 22 24491986 24491986 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012295.2 +1 reviewed p.E1293D 1.000 208 0% 96 32.3% 16 31.2% probably_damaging(0.999) tolerated(0.11) deleterious(0.762) NULL SUSD2 56241 genome.wustl.edu 37 22 24583360 24583360 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019601.3 +1 validated p.S611 0.936 35 0% 28 14.3% 4 0% - - - HMMPfam_VWD,HMMSmart_VWD GGT5 2687 genome.wustl.edu 37 22 24621000 24621000 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000425408 -1 known p.A129V 0.000 15 0% 15 26.7% 9 0% - - - HMMPfam_G_glu_transpept FAM211B 388886 genome.wustl.edu 37 22 24982152 24982152 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207644.2 -1 validated p.G217D 1.000 60 0% 18 27.8% 24 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_RNI-like SGSM1 129049 genome.wustl.edu 37 22 25280080 25280080 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001039948.2 +1 validated p.H574R 1.000 58 0% 34 29.4% 0 - probably_damaging(0.974) tolerated(0.26) neutral(0.450) NULL LRP5L 91355 genome.wustl.edu 37 22 25756013 25756013 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001135772.1 -1 validated p.R16H 1.000 58 0% 25 40% 13 30.7% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) HMMPfam_Ldl_recept_b,superfamily_YWTD domain ADRBK2 157 genome.wustl.edu 37 22 26083560 26083560 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005160.3 +1 reviewed p.R295W 1.000 201 0.5% 106 28.3% 11 45.4% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase ADRBK2 157 genome.wustl.edu 37 22 26091155 26091155 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005160.3 +1 reviewed p.G378 0.990 105 0% 59 10.2% 8 0% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase ADRBK2 157 genome.wustl.edu 37 22 26114293 26114293 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005160.3 +1 reviewed p.R579H 0.992 216 0% 121 32.2% 16 18.7% probably_damaging(0.984) deleterious(0.01) deleterious(0.836) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 MYO18B 84700 genome.wustl.edu 37 22 26157076 26157076 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032608.5 +1 reviewed p.R6L 1.000 157 0% 83 24.1% 0 - probably_damaging(0.966) deleterious(0) deleterious(0.853) NULL MYO18B 84700 genome.wustl.edu 37 22 26299786 26299786 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032608.5 +1 reviewed p.K1712N 1.000 46 2.2% 24 25% 0 - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) NULL MYO18B 84700 genome.wustl.edu 37 22 26423548 26423548 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032608.5 +1 reviewed p.D2536 0.000 73 0% 48 29.2% 0 - - - - NULL SEZ6L 23544 genome.wustl.edu 37 22 26688520 26688520 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021115.4 +1 validated p.G81 0.000 147 0% 68 20.6% 0 - - - - NULL ASPHD2 57168 genome.wustl.edu 37 22 26829703 26829703 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020437.4 +1 validated p.G41D 1.000 37 0% 16 31.2% 0 - benign(0.328) deleterious(0.03) neutral(0.467) NULL HPS4 89781 genome.wustl.edu 37 22 26849285 26849285 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022081.4 -1 reviewed p.G681S 0.998 258 0.4% 107 38.3% 19 26.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CRYBB1 1414 genome.wustl.edu 37 22 27003928 27003928 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001887.3 -1 reviewed p.G119 0.993 102 1% 63 27% 1 0% - - - HMMPfam_Crystall,HMMSmart_XTALbg,superfamily_G_crystallin_SF PITPNB 23760 genome.wustl.edu 37 22 28256139 28256139 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012399.3 -1 reviewed p.V209I 1.000 192 0% 101 30.7% 38 52.6% benign(0.057) tolerated(0.4) neutral(0.019) HMMPfam_IP_trans,superfamily_Bet v1-like ZNRF3 84133 genome.wustl.edu 37 22 29440867 29440867 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032173.2 +1 validated p.R145* 1.000 85 0% 40 47.5% 5 80% - - - NULL ZNRF3 84133 genome.wustl.edu 37 22 29445387 29445387 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032173.2 +1 validated p.S306 1.000 68 0% 30 36.7% 19 36.8% - - - NULL EMID1 129080 genome.wustl.edu 37 22 29621183 29621183 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_133455.2 +1 validated p.A127 0.000 103 0% 42 31% 7 28.5% - - - NULL RHBDD3 25807 genome.wustl.edu 37 22 29659844 29659844 + Frame_Shift_Del DEL C C - novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012265.1 -1 provisional p.G171fs 1.000 - - - - - - - - - HMMPfam_Rhomboid EWSR1 2130 genome.wustl.edu 37 22 29696115 29696115 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000360091 +1 known p.R297* 0.160 388 0.3% 197 23.9% 177 47.4% - - - NULL RASL10A 10633 genome.wustl.edu 37 22 29709897 29709897 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006477.3 -1 validated p.S100I 1.000 16 0% 19 26.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Miro,superfamily_P-loop containing nucleoside triphosphate hydrolases RFPL1 5988 genome.wustl.edu 37 22 29834871 29834871 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021026.2 +1 validated p.A31T 0.317 507 0% 311 28.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_SSF57850 THOC5 8563 genome.wustl.edu 37 22 29916090 29916090 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001002877.1 -1 validated p.I427 1.000 122 0% 56 35.7% 27 44.4% - - - HMMPfam_FimP MTMR3 8897 genome.wustl.edu 37 22 30416739 30416739 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021090.3 +1 reviewed p.L1031M 1.000 83 0% 39 46.2% 13 46.1% probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL MTMR3 8897 genome.wustl.edu 37 22 30418045 30418045 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021090.3 +1 reviewed p.L1085M 0.998 103 0% 65 13.8% 22 9% possibly_damaging(0.945) tolerated(0.28) neutral(0.421) NULL SF3A1 10291 genome.wustl.edu 37 22 30742485 30742485 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005877.4 -1 reviewed p.R70M 1.000 235 0% 94 27.7% 60 43.3% probably_damaging(0.995) - - HMMPfam_Surp,HMMSmart_SWAP,superfamily_SSF109905 GAL3ST1 9514 genome.wustl.edu 37 22 30951026 30951026 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004861.1 -1 reviewed p.P396S 1.000 31 0% 14 28.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Gal-3-0_sulfotr OSBP2 23762 genome.wustl.edu 37 22 31283460 31283460 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030758.3 +1 reviewed p.W385* 1.000 39 0% 19 31.6% 10 40% - - - NULL MORC2 22880 genome.wustl.edu 37 22 31324094 31324094 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014941.1 -1 provisional p.R919H 0.962 116 0% 61 31.1% 55 32.7% benign(0.036) deleterious(0.01) neutral(0.408) NULL SMTN 6525 genome.wustl.edu 37 22 31484688 31484688 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_134270.1 +1 reviewed p.R100* 1.000 30 0% 19 36.8% 15 33.3% - - - NULL INPP5J 27124 genome.wustl.edu 37 22 31524467 31524467 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001002837.1 +1 validated p.R306W 1.000 54 0% 23 21.7% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_IPPc,HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos LIMK2 3985 genome.wustl.edu 37 22 31673087 31673087 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001031801.1 +1 reviewed p.I674 1.000 80 0% 37 27% 7 14.2% - - - HMMPfam_PP1_inhibitor,superfamily_PP1_inhibitor PIK3IP1 113791 genome.wustl.edu 37 22 31679207 31679207 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052880.4 -1 validated p.P219S 1.000 87 0% 38 21.1% 27 14.8% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL PIK3IP1 113791 genome.wustl.edu 37 22 31685195 31685195 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000402249 -1 known p.Q231 0.034 29 0% 19 36.8% 0 - - - - NULL PISD 23761 genome.wustl.edu 37 22 32015731 32015731 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014338.3 -1 validated p.R332H 1.000 51 0% 21 23.8% 23 34.7% probably_damaging(0.993) tolerated(0.12) deleterious(0.711) HMMPfam_PS_Dcarbxylase PRR14L 253143 genome.wustl.edu 37 22 32072940 32072940 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000397493 -1 known p.A2082T 0.000 14 0% 11 36.4% 0 - benign(0.29) deleterious(0.05) neutral(0.435) NULL DEPDC5 9681 genome.wustl.edu 37 22 32160977 32160977 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014662.2 +1 validated p.D70 1.000 242 0% 173 20.8% 7 42.8% - - - NULL SLC5A1 6523 genome.wustl.edu 37 22 32480452 32480452 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000343.3 +1 reviewed p.A231T 0.094 345 0% 221 29.4% 5 40% benign(0.001) tolerated(0.14) neutral(0.249) HMMPfam_SSF SLC5A4 6527 genome.wustl.edu 37 22 32633303 32633303 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014227.2 -1 validated p.A198T 1.000 77 0% 30 23.3% 1 100% probably_damaging(1) tolerated(0.17) deleterious(0.559) HMMPfam_SSF,PatternScan_NA_SOLUT_SYMP_1 TOM1 10043 genome.wustl.edu 37 22 35726356 35726356 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001135732.1 +1 reviewed p.C261Y 1.000 212 0% 104 19.2% 34 14.7% benign(0.242) deleterious(0) deleterious(0.469) HMMPfam_GAT,superfamily_SSF89009 HMOX1 3162 genome.wustl.edu 37 22 35782760 35782760 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002133.1 +1 reviewed p.P76H 1.000 83 1.2% 39 28.2% 30 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Heme_oxygenase,superfamily_Heme oxygenase-like RASD2 23551 genome.wustl.edu 37 22 35948032 35948032 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014310.3 +1 reviewed p.L252I 0.999 36 0% 16 37.5% 3 0% benign(0.001) tolerated(0.63) neutral(0.004) NULL APOL6 80830 genome.wustl.edu 37 22 36055571 36055571 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030641.3 +1 reviewed p.L320 0.000 69 0% 43 37.2% 2 0% - - - NULL APOL4 80832 genome.wustl.edu 37 22 36587263 36587263 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000352371 -1 known p.V305I 0.000 52 0% 34 11.8% 26 30.7% possibly_damaging(0.888) tolerated(0.37) neutral(0.366) HMMPfam_ApoL APOL2 23780 genome.wustl.edu 37 22 36624081 36624081 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_030882.2 -1 reviewed p.G128D 0.833 235 0% 113 31.9% 32 40.6% possibly_damaging(0.47) tolerated(0.1) neutral(0.442) HMMPfam_ApoL TXN2 25828 genome.wustl.edu 37 22 36863923 36863923 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012473.3 -1 reviewed p.D143 1.000 135 0% 64 14.1% 182 17% - - - superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin CSF2RB 1439 genome.wustl.edu 37 22 37331409 37331409 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000395.2 +1 reviewed p.V444 0.189 56 0% 22 27.3% 0 - - - - NULL CYTH4 27128 genome.wustl.edu 37 22 37705303 37705303 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013385.3 +1 reviewed p.D249 0.990 137 0% 76 23.7% 7 0% - - - superfamily_Sec7 ELFN2 114794 genome.wustl.edu 37 22 37770616 37770616 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052906.3 -1 validated p.S320I 1.000 98 0% 34 26.5% 0 - possibly_damaging(0.574) deleterious(0.02) deleterious(0.580) HMMSmart_FN3 MFNG 4242 genome.wustl.edu 37 22 37876341 37876341 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000424765 -1 known p.L110 0.765 91 0% 55 10.9% 0 - - - - NULL CDC42EP1 11135 genome.wustl.edu 37 22 37964407 37964407 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152243.2 +1 reviewed p.P252 0.013 12 0% 12 41.7% 20 80% - - - NULL TRIOBP 11078 genome.wustl.edu 37 22 38119289 38119289 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001039141.2 +1 reviewed p.Q242H 0.641 156 0% 105 13.3% 1 0% possibly_damaging(0.931) deleterious(0.02) deleterious(0.760) NULL GCAT 23464 genome.wustl.edu 37 22 38211725 38211725 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014291.3 +1 reviewed p.R290 1.000 91 0% 42 35.7% 36 22.2% - - - HMMPfam_Aminotran_1_2,superfamily_PyrdxlP-dep_Trfase_major BAIAP2L2 80115 genome.wustl.edu 37 22 38483215 38483215 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025045.4 -1 validated p.P392H 0.777 21 0% 21 38.1% 7 0% probably_damaging(0.953) deleterious(0.02) deleterious(0.780) superfamily_SH3-domain PLA2G6 8398 genome.wustl.edu 37 22 38509564 38509564 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003560.2 -1 reviewed p.P711L 1.000 94 0% 52 28.8% 6 16.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_FabD/lysophospholipase-like KDELR3 11015 genome.wustl.edu 37 22 38877428 38877428 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016657.1 +1 reviewed p.T188I 1.000 173 0% 93 24.7% 39 46.1% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL SUN2 25777 genome.wustl.edu 37 22 39148614 39148614 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015374.1 -1 validated p.R7H 1.000 25 0% 15 40% 42 38% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL APOBEC3B 9582 genome.wustl.edu 37 22 39388140 39388140 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004900.3 +1 reviewed p.R374W 0.005 114 0% 49 30.6% 5 40% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL APOBEC3D 140564 genome.wustl.edu 37 22 39421655 39421655 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152426.3 +1 reviewed p.R195H 0.000 352 0% 170 28.8% 2 0% benign(0.006) tolerated(0.27) neutral(0.034) NULL APOBEC3D 140564 genome.wustl.edu 37 22 39427766 39427766 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152426.3 +1 reviewed p.S277Y 0.000 426 0% 219 10.5% 5 0% benign(0.057) tolerated(0.82) neutral(0.004) HMMPfam_APOBEC_N,PatternScan_CYT_DCMP_DEAMINASES,superfamily_Cytidine deaminase-like MGAT3 4248 genome.wustl.edu 37 22 39884801 39884801 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001098270.1 +1 reviewed p.A483 0.878 24 0% 10 40% 1 0% - - - HMMPfam_Glyco_transf_17 CACNA1I 8911 genome.wustl.edu 37 22 39996567 39996567 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021096.3 +1 reviewed p.V131L 1.000 113 0% 33 12.1% 0 - benign(0.001) tolerated(0.26) neutral(0.034) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels TNRC6B 23112 genome.wustl.edu 37 22 40718911 40718911 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015088.2 +1 validated p.V1613A 1.000 90 0% 45 37.8% 11 27.2% probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL ADSL 158 genome.wustl.edu 37 22 40760365 40760365 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000026.2 +1 reviewed p.R396H 1.000 73 0% 33 33.3% 140 42.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_L-aspartase-like,HMMPfam_ADSL_C SGSM3 27352 genome.wustl.edu 37 22 40801789 40801789 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015705.4 +1 validated p.R252H 1.000 120 0% 60 25% 99 57.5% possibly_damaging(0.81) deleterious(0.04) deleterious(0.654) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p ST13 6767 genome.wustl.edu 37 22 41240911 41240911 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003932.3 -1 reviewed p.I83L 1.000 88 0% 60 38.3% 123 40.6% benign(0.002) tolerated(1) - NULL L3MBTL2 83746 genome.wustl.edu 37 22 41623254 41623254 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031488.4 +1 validated p.C583 0.956 10 0.000 8 0.625 46 54.3% - - - HMMPfam_MBT,HMMSmart_SM00561,superfamily_Tudor/PWWP/MBT ZC3H7B 23264 genome.wustl.edu 37 22 41735013 41735013 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017590.4 +1 reviewed p.V212M 0.869 177 0% 102 31.4% 39 35.8% benign(0) tolerated(0.14) neutral(0.249) NULL XRCC6 2547 genome.wustl.edu 37 22 42032532 42032532 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001469.3 +1 reviewed p.I116S 0.760 151 0% 85 23.5% 419 24.5% probably_damaging(0.969) deleterious(0) deleterious(0.856) HMMPfam_Ku_N,superfamily_SSF53300 MEI1 150365 genome.wustl.edu 37 22 42159297 42159297 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152513.3 +1 validated p.C747Y 0.987 225 0% 147 27.2% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) superfamily_ARM repeat CCDC134 79879 genome.wustl.edu 37 22 42209293 42209293 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024821.2 +1 validated p.T112 0.845 126 0.8% 92 16.3% 6 33.3% - - - NULL LOC100289204 100289204 genome.wustl.edu 37 22 42537288 42537288 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002343781.1 +1 model p.V193I 1.000 58 0% 25 24% 1 0% unknown(0) - - NULL CYP2D7P1 1564 genome.wustl.edu 37 22 42537980 42537980 + RNA SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NR_002570.2 -1 validated NULL 0.001 97 0% 35 28.6% 3 100% unknown(0) deleterious(0) - - TCF20 6942 genome.wustl.edu 37 22 42607358 42607358 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005650.1 -1 reviewed p.K1318N 1.000 570 0% 288 31.2% 27 33.3% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL TCF20 6942 genome.wustl.edu 37 22 42607886 42607886 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005650.1 -1 reviewed p.G1142 0.656 334 0.3% 157 33.8% 19 31.5% - - - NULL TCF20 6942 genome.wustl.edu 37 22 42610946 42610946 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005650.1 -1 reviewed p.Q122H 1.000 360 0.3% 228 10.5% 16 12.5% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL CYB5R3 1727 genome.wustl.edu 37 22 43023624 43023624 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000398.6 -1 reviewed p.I178 0.813 76 0% 43 34.9% 153 32% - - - HMMPfam_NAD_binding_1,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain A4GALT 53947 genome.wustl.edu 37 22 43089670 43089670 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017436.4 -1 reviewed p.C96 1.000 56 0% 24 20.8% 24 25% - - - NULL MCAT 27349 genome.wustl.edu 37 22 43533197 43533197 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173467.4 -1 reviewed p.A207T 1.000 134 0% 78 14.1% 54 14.8% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) HMMPfam_Acyl_transf_1,superfamily_FabD/lysophospholipase-like,superfamily_Probable ACP-binding domain of malonyl-CoA ACP transacylase EFCAB6 64800 genome.wustl.edu 37 22 43950865 43950865 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022785.2 -1 validated p.Y1178H 0.005 125 0% 76 19.7% 1 0% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) superfamily_EF-hand EFCAB6 64800 genome.wustl.edu 37 22 43995949 43995949 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022785.2 -1 validated p.R959M 0.982 637 0.2% 352 14.5% 2 50% probably_damaging(0.985) deleterious(0.01) deleterious(0.838) NULL PNPLA3 80339 genome.wustl.edu 37 22 44323035 44323035 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025225.2 +1 reviewed p.D136 0.101 58 0% 26 26.9% 3 33.3% - - - HMMPfam_Patatin,superfamily_FabD/lysophospholipase-like PNPLA3 80339 genome.wustl.edu 37 22 44324766 44324766 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025225.2 +1 reviewed p.G161 0.057 111 0% 55 47.3% 1 100% - - - HMMPfam_Patatin,superfamily_FabD/lysophospholipase-like SAMM50 25813 genome.wustl.edu 37 22 44359214 44359214 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015380.4 +1 validated p.E24K 1.000 382 0% 203 28.1% 82 52.4% benign(0.167) tolerated(0.28) neutral(0.046) NULL PRR5-ARHGAP8 553158 genome.wustl.edu 37 22 45210607 45210607 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_181334.4 +1 reviewed p.V155I 0.009 87 0% 67 32.8% 13 30.7% benign(0.002) tolerated(0.4) neutral(0.016) HMMSmart_SEC14,superfamily_CRAL_TRIO_C PHF21B 112885 genome.wustl.edu 37 22 45309802 45309802 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138415.3 -1 validated p.S244N 0.962 61 0% 41 34.1% 0 - benign(0.119) deleterious(0) neutral(0.454) NULL NUP50 10762 genome.wustl.edu 37 22 45574280 45574280 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007172.3 +1 reviewed p.R168W 0.997 359 0% 202 23.8% 20 40% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_NUP50 UPK3A 7380 genome.wustl.edu 37 22 45681835 45681835 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006953.3 +1 reviewed p.Q22H 1.000 142 0% 89 11.2% 1 0% possibly_damaging(0.945) deleterious(0.02) deleterious(0.772) NULL FBLN1 2192 genome.wustl.edu 37 22 45946457 45946457 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006486.2 +1 reviewed p.A553 1.000 77 0% 32 12.5% 2710 32.3% - - - HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,superfamily_EGF/Laminin CELSR1 9620 genome.wustl.edu 37 22 46794471 46794471 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014246.1 -1 reviewed p.A1826T 0.147 47 0% 23 39.1% 16 75% benign(0.018) tolerated(0.6) neutral(0.005) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 CELSR1 9620 genome.wustl.edu 37 22 46835284 46835284 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014246.1 -1 reviewed p.R1403H 1.000 62 0% 26 34.6% 8 0% possibly_damaging(0.644) tolerated(0.21) neutral(0.270) superfamily_EGF/Laminin CERK 64781 genome.wustl.edu 37 22 47108155 47108155 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022766.5 -1 validated p.P139S 0.999 125 0% 70 11.4% 19 15.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DAGK_cat,HMMSmart_DAGKc ENSG00000246355 0 genome.wustl.edu 37 22 50277290 50277290 + RNA SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000502014 -1 novel NULL 0.005 100 0% 49 24.5% 4 75% - - - - ZBED4 9889 genome.wustl.edu 37 22 50280200 50280200 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014838.2 +1 validated p.L964I 1.000 49 0% 23 34.8% 15 33.3% probably_damaging(0.999) tolerated(0.12) deleterious(0.751) NULL TRABD 80305 genome.wustl.edu 37 22 50635732 50635732 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_025204.2 +1 provisional p.E161 1.000 23 4.3% 17 29.4% 78 35.8% - - - HMMPfam_TraB SELO 83642 genome.wustl.edu 37 22 50655737 50655737 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031454.1 +1 reviewed p.R650H 0.000 22 0% 10 70% 27 48.1% benign(0.002) tolerated(0.57) neutral(0.006) NULL PPP6R2 9701 genome.wustl.edu 37 22 50832406 50832406 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014678.3 +1 validated p.T23 0.001 318 0% 186 11.8% 33 21.2% - - - NULL SHANK3 85358 genome.wustl.edu 37 22 51143508 51143508 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080420.1 +1 reviewed p.D687 0.736 33 0% 24 25% 4 25% - - - NULL KIR2DL5B 553128 genome.wustl.edu 37 GL000209.1 30781 30781 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000344867 +1 known p.G239S NULL 656 0.3% 434 29.5% 0 - benign(0.402) tolerated(0.12) neutral(0.390) NULL ENSG00000237375 0 genome.wustl.edu 37 GL000213.1 139119 139119 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000327822 -1 known p.L57I NULL 122 0% 68 22.1% 0 - probably_damaging(0.983) deleterious(0) deleterious(0.873) NULL CSF2RA 1438 genome.wustl.edu 37 X 1407700 1407700 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006140.4 +1 reviewed p.A131V 0.000 526 0.2% 348 36.5% 1 0% benign(0.049) tolerated(0.44) neutral(0.015) superfamily_Fibronectin type III SLC25A6 293 genome.wustl.edu 37 X 1505636 1505636 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001636.3 -1 reviewed p.T252 0.943 112 0% 50 34% 707 36.3% - - - superfamily_Mitochondrial carrier,HMMPfam_Mito_carr AKAP17A 8227 genome.wustl.edu 37 X 1713084 1713084 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005088.2 +1 validated p.G243 0.977 41 0% 23 21.7% 30 30% - - - NULL ZBED1 9189 genome.wustl.edu 37 X 2408412 2408412 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004729.3 -1 reviewed p.G117S 0.872 63 0% 32 28.1% 56 48.2% benign(0) tolerated(0.95) - NULL GYG2 8908 genome.wustl.edu 37 X 2772094 2772094 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003918.2 +1 reviewed p.A106T 1.000 78 0% 50 16% 6 50% benign(0.025) tolerated(0.35) neutral(0.022) HMMPfam_Glyco_transf_8,superfamily_Nucleotide-diphospho-sugar transferases ARSD 414 genome.wustl.edu 37 X 2835950 2835950 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001669.2 -1 reviewed p.R253H 0.006 58 0% 27 18.5% 39 41% benign(0.026) tolerated(0.64) neutral(0.004) HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like ARSD 414 genome.wustl.edu 37 X 2838738 2838738 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001669.2 -1 reviewed p.A115T 0.794 147 0% 74 28.4% 45 60% benign(0.005) tolerated(0.1) neutral(0.286) HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like ARSE 415 genome.wustl.edu 37 X 2867585 2867585 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000047.2 -1 reviewed p.A205D 0.008 147 0% 83 12% 1 0% benign(0.289) deleterious(0.02) deleterious(0.472) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core ARSE 415 genome.wustl.edu 37 X 2867735 2867735 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000047.2 -1 reviewed p.A155V 0.000 133 0.8% 74 25.7% 2 0% benign(0) tolerated(0.36) neutral(0.020) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core ARSE 415 genome.wustl.edu 37 X 2873507 2873507 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000047.2 -1 reviewed p.C86Y 0.997 24 0% 19 26.3% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sulfatase,PatternScan_SULFATASE_1,superfamily_Alkaline_phosphatase_core ARSE 415 genome.wustl.edu 37 X 2873545 2873545 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000047.2 -1 reviewed p.G73 0.061 45 0% 29 48.3% 1 0% - - - HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core MXRA5 25878 genome.wustl.edu 37 X 3235844 3235844 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015419.3 -1 reviewed p.V1960I 1.000 97 1% 66 19.7% 6 0% benign(0.307) tolerated(0.28) neutral(0.127) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin MXRA5 25878 genome.wustl.edu 37 X 3235845 3235845 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015419.3 -1 reviewed p.D1959 0.942 95 0% 66 36.4% 6 0% - - - HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin MXRA5 25878 genome.wustl.edu 37 X 3240920 3240920 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015419.3 -1 reviewed p.H936Y 0.000 278 0% 173 28.9% 2 0% benign(0.016) tolerated(0.06) neutral(0.323) NULL MXRA5 25878 genome.wustl.edu 37 X 3248757 3248757 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015419.3 -1 reviewed p.E82D 0.842 236 0% 96 36.5% 1 0% probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like NLGN4X 57502 genome.wustl.edu 37 X 5811228 5811228 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020742.2 -1 reviewed p.A694V 0.998 296 0% 144 33.3% 8 75% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NLGN4X 57502 genome.wustl.edu 37 X 5811396 5811396 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020742.2 -1 reviewed p.R638H 1.000 501 0% 260 32.7% 5 0% benign(0.005) tolerated(0.25) neutral(0.037) NULL NLGN4X 57502 genome.wustl.edu 37 X 5821781 5821781 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020742.2 -1 reviewed p.D313G 1.000 176 0% 83 24.1% 6 83.3% benign(0.113) deleterious(0.04) neutral(0.358) HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases PNPLA4 8228 genome.wustl.edu 37 X 7870047 7870047 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142389.1 -1 reviewed p.A205T 0.014 247 0.4% 125 33.6% 39 53.8% benign(0.001) tolerated(0.75) neutral(0.002) NULL KAL1 3730 genome.wustl.edu 37 X 8565163 8565163 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000216.2 -1 reviewed p.C151 0.294 147 0% 96 35.4% 1 0% - - - HMMPfam_WAP,HMMSmart_WAP,superfamily_WAP,PatternScan_4_DISULFIDE_CORE TBL1X 6907 genome.wustl.edu 37 X 9656079 9656079 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001139466.1 +1 reviewed p.R127H 1.000 38 0% 18 38.9% 13 53.8% possibly_damaging(0.631) deleterious(0.01) deleterious(0.626) NULL GPR143 4935 genome.wustl.edu 37 X 9714123 9714123 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000273.2 -1 reviewed p.V227M 0.010 115 0% 48 14.6% 1 0% possibly_damaging(0.843) deleterious(0.03) deleterious(0.688) HMMPfam_Ocular_alb WWC3 55841 genome.wustl.edu 37 X 10096179 10096179 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015691.3 +1 validated p.T753I 0.001 79 0% 37 27% 1 0% benign(0.031) tolerated(0.2) neutral(0.051) NULL WWC3 55841 genome.wustl.edu 37 X 10106872 10106872 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015691.3 +1 validated p.R994W 1.000 57 0% 34 41.2% 3 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MID1 4281 genome.wustl.edu 37 X 10535158 10535158 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000381.2 -1 reviewed p.E144K 1.000 204 0% 119 29.4% 11 0% benign(0.001) tolerated(0.13) neutral(0.253) HMMSmart_SM00336 MID1 4281 genome.wustl.edu 37 X 10535512 10535512 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000381.2 -1 reviewed p.A26T 1.000 236 0% 150 26.7% 7 14.2% probably_damaging(0.979) tolerated(0.19) deleterious(0.471) HMMSmart_SM00184,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_RING/U-box FRMPD4 9758 genome.wustl.edu 37 X 12627848 12627848 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014728.3 +1 reviewed p.T56I 1.000 219 0% 104 21.2% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_PDZ TLR8 51311 genome.wustl.edu 37 X 12938453 12938453 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138636.4 +1 reviewed p.P432S 1.000 395 0.3% 353 28% 0 - possibly_damaging(0.468) tolerated(0.12) neutral(0.414) superfamily_SSF52047 EGFL6 25975 genome.wustl.edu 37 X 13588004 13588004 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015507.3 +1 reviewed p.A8 0.101 28 0% 14 28.6% 0 - - - - NULL EGFL6 25975 genome.wustl.edu 37 X 13636147 13636147 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015507.3 +1 reviewed p.E359D 0.015 499 0% 246 17.5% 6 50% probably_damaging(0.999) tolerated(0.27) deleterious(0.524) NULL OFD1 8481 genome.wustl.edu 37 X 13775906 13775906 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003611.2 +1 reviewed p.D513 0.006 246 0% 142 12% 42 11.9% - - - NULL FANCB 2187 genome.wustl.edu 37 X 14871176 14871176 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001018113.1 -1 reviewed p.T437 0.000 369 0.3% 279 20.8% 2 100% - - - NULL MOSPD2 158747 genome.wustl.edu 37 X 14932661 14932661 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152581.3 +1 validated p.S343 0.990 199 0% 151 16.6% 15 0% - - - HMMPfam_Motile_Sperm,superfamily_PapD-like ASB11 140456 genome.wustl.edu 37 X 15311420 15311420 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080873.1 -1 reviewed p.G131E 1.000 232 0% 147 27.2% 0 - possibly_damaging(0.882) deleterious(0.02) deleterious(0.728) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK PIGA 5277 genome.wustl.edu 37 X 15349370 15349370 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002641.2 -1 reviewed p.I228S 0.997 147 0% 76 27.6% 3 33.3% possibly_damaging(0.832) deleterious(0) deleterious(0.762) HMMPfam_Glycos_transf_1,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase ZRSR2 8233 genome.wustl.edu 37 X 15841113 15841113 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005089.3 +1 reviewed p.S399 0.585 182 0.5% 84 33.3% 17 47% - - - NULL NHS 4810 genome.wustl.edu 37 X 17744314 17744314 + Silent SNP C C G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198270.2 +1 reviewed p.G675 1.000 1645 0.1% 900 25% 0 - - - - NULL NHS 4810 genome.wustl.edu 37 X 17744548 17744548 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198270.2 +1 reviewed p.S753R 1.000 1119 0% 560 27.7% 2 0% probably_damaging(0.978) tolerated(0.21) neutral(0.464) NULL NHS 4810 genome.wustl.edu 37 X 17745606 17745606 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198270.2 +1 reviewed p.P1106H 0.054 1044 0% 526 24% 3 0% probably_damaging(0.967) deleterious(0.01) deleterious(0.815) NULL SCML1 6322 genome.wustl.edu 37 X 17770061 17770061 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001037540.1 +1 validated p.P277H 0.000 818 0.1% 427 25.1% 7 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain CDKL5 6792 genome.wustl.edu 37 X 18582616 18582616 + Missense_Mutation SNP C C T rs122460159 TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001037343.1 +1 reviewed p.A40V 0.994 332 0% 242 21.9% 0 - probably_damaging(0.954) deleterious(0) deleterious(0.842) HMMSmart_S_TKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase PPEF1 5475 genome.wustl.edu 37 X 18725944 18725944 + Silent SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006240.2 +1 reviewed p.T15 0.076 179 0% 109 31.2% 0 - - - - HMMSmart_SM00015 PPEF1 5475 genome.wustl.edu 37 X 18768032 18768032 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006240.2 +1 reviewed p.D120N 0.015 658 0.2% 472 27.1% 0 - probably_damaging(0.979) tolerated(0.35) neutral(0.443) HMMPfam_PPP5,superfamily_Metallo-dependent phosphatases PHKA2 5256 genome.wustl.edu 37 X 18972476 18972476 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000292.2 -1 reviewed p.R45W 0.998 246 0.8% 140 27.1% 8 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PHK_AB,superfamily_Six-hairpin glycosidases SH3KBP1 30011 genome.wustl.edu 37 X 19702025 19702025 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031892.2 -1 reviewed p.G214 0.999 608 0.2% 389 30.1% 21 71.4% - - - NULL SH3KBP1 30011 genome.wustl.edu 37 X 19764516 19764516 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031892.2 -1 reviewed p.A69V 1.000 561 0% 337 25.5% 11 63.6% benign(0.141) tolerated(0.15) neutral(0.253) NULL MAP7D2 256714 genome.wustl.edu 37 X 20043997 20043997 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152780.3 -1 validated p.R320C 0.980 465 0% 248 26.6% 0 - unknown(0) deleterious(0) - NULL MAP7D2 256714 genome.wustl.edu 37 X 20071040 20071040 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152780.3 -1 validated p.R184H 1.000 346 0% 191 25.1% 1 0% benign(0.008) tolerated(0.11) neutral(0.272) NULL CNKSR2 22866 genome.wustl.edu 37 X 21534644 21534644 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014927.3 +1 reviewed p.E284D 1.000 335 0.3% 275 10.5% 2 0% benign(0.021) tolerated(0.16) neutral(0.060) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like YY2 404281 genome.wustl.edu 37 X 21875043 21875043 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_206923.3 +1 reviewed p.G147 0.005 142 0% 71 35.2% 0 - - - - NULL MBTPS2 51360 genome.wustl.edu 37 X 21900747 21900747 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015884.3 +1 reviewed p.G512* 1.000 241 0% 120 27.5% 5 0% - - - HMMPfam_Peptidase_M50 SMS 6611 genome.wustl.edu 37 X 21995200 21995200 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000457085 +1 known p.R209G 1.000 237 0% 131 25.2% 111 89.1% - - - HMMPfam_Spermine_synth SMS 6611 genome.wustl.edu 37 X 22010813 22010813 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004595.2 +1 reviewed p.V348 1.000 332 0% 178 27% 236 0.8% - - - HMMPfam_Spermine_synth,superfamily_S-adenosyl-L-methionine-dependent methyltransferases PHEX 5251 genome.wustl.edu 37 X 22112104 22112104 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000444.4 +1 reviewed p.R246W 1.000 372 0% 254 24.8% 3 100% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Peptidase_M13_N,superfamily_SSF55486 DDX53 168400 genome.wustl.edu 37 X 23018663 23018663 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182699.2 +1 validated p.C163 0.001 365 0% 228 30.3% 0 - - - - superfamily_SSF52540 LOC100289205 100289205 genome.wustl.edu 37 X 23353211 23353211 + Nonsense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002343809.1 -1 model p.E38* 1.000 27 0% 16 43.8% 3 0% - - - NULL PTCHD1 139411 genome.wustl.edu 37 X 23397778 23397778 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173495.2 +1 validated p.I141T 1.000 251 0% 134 27.6% 3 100% benign(0.085) tolerated(0.1) neutral(0.292) HMMPfam_Patched PTCHD1 139411 genome.wustl.edu 37 X 23411079 23411079 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173495.2 +1 validated p.L482I 1.000 400 0.3% 236 30.1% 2 50% possibly_damaging(0.895) tolerated(0.1) deleterious(0.639) HMMPfam_Patched ZFX 7543 genome.wustl.edu 37 X 24197479 24197479 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003410.3 +1 reviewed p.D80Y 1.000 630 0.2% 384 30.5% 10 10% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Zfx_Zfy_act FAM48B1 100130302 genome.wustl.edu 37 X 24382953 24382953 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001136234.1 +1 inferred p.G692 0.000 102 0% 56 28.6% 0 - - - - NULL FAM48B1 100130302 genome.wustl.edu 37 X 24383534 24383534 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001136234.1 +1 inferred p.A886V 0.000 148 0% 71 21.1% 0 - - - - NULL PDK3 5165 genome.wustl.edu 37 X 24516996 24516996 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142386.2 +1 reviewed p.E100G 1.000 139 0% 72 15.3% 8 62.5% possibly_damaging(0.759) deleterious(0.03) deleterious(0.645) HMMPfam_BCDHK_Adom3,superfamily_SSF69012 MAGEB5 347541 genome.wustl.edu 37 X 26235884 26235884 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_293407.6 +1 model p.L248M 0.006 22 0% 16 25% 0 - probably_damaging(1) deleterious(0.05) deleterious(0.845) HMMPfam_MAGE IL1RAPL1 11141 genome.wustl.edu 37 X 29686618 29686618 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014271.3 +1 reviewed p.L259M 1.000 113 0% 85 22.4% 0 - benign(0.154) tolerated(0.15) neutral(0.255) HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Immunoglobulin IL1RAPL1 11141 genome.wustl.edu 37 X 29959909 29959909 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014271.3 +1 reviewed p.G400E 1.000 407 0% 274 16.8% 0 - benign(0.018) tolerated(1) neutral(0.001) superfamily_Toll/Interleukin receptor TIR domain IL1RAPL1 11141 genome.wustl.edu 37 X 29972789 29972789 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014271.3 +1 reviewed p.R451I 1.000 192 0% 136 33.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_TIR,HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain MAGEB3 4114 genome.wustl.edu 37 X 30255030 30255030 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002365.4 +1 reviewed p.A330D 0.000 129 0% 47 23.4% 0 - probably_damaging(0.961) tolerated(0.14) deleterious(0.653) NULL GK 2710 genome.wustl.edu 37 X 30726245 30726245 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001128127.1 +1 reviewed p.A317 0.762 330 0% 211 11.4% 3 0% - - - HMMPfam_FGGY_C,superfamily_SSF53067 GK 2710 genome.wustl.edu 37 X 30738974 30738974 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001128127.1 +1 reviewed p.P449S 1.000 141 0% 75 26.7% 4 0% benign(0.014) tolerated(0.11) neutral(0.272) HMMPfam_FGGY_C,superfamily_SSF53067 TAB3 257397 genome.wustl.edu 37 X 30872753 30872753 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152787.3 -1 reviewed p.Q343H 1.000 271 0% 178 14.6% 12 0% possibly_damaging(0.496) tolerated(0.1) neutral(0.452) NULL FTHL17 53940 genome.wustl.edu 37 X 31089563 31089563 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031894.2 -1 reviewed p.L170M 1.000 80 0% 27 18.5% 0 - possibly_damaging(0.941) tolerated(0.13) deleterious(0.639) superfamily_Ferritin/RR_like DMD 1756 genome.wustl.edu 37 X 31279077 31279077 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004006.2 -1 reviewed p.S3094Y 1.000 102 0% 76 15.8% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_efhand_1,superfamily_EF-hand DMD 1756 genome.wustl.edu 37 X 31279112 31279112 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004006.2 -1 reviewed p.C3082* 1.000 112 0% 89 12.4% 4 0% - - - HMMPfam_WW,HMMSmart_SM00456,PatternScan_WW_DOMAIN_1,superfamily_WW domain DMD 1756 genome.wustl.edu 37 X 31792256 31792256 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004006.2 -1 reviewed p.A2455T 0.997 217 0% 128 25.8% 0 - benign(0) tolerated(0.55) neutral(0.007) NULL DMD 1756 genome.wustl.edu 37 X 32361289 32361289 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004006.2 -1 reviewed p.A1901T 1.000 362 0% 283 24% 0 - possibly_damaging(0.849) tolerated(0.19) neutral(0.376) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat DMD 1756 genome.wustl.edu 37 X 32383221 32383221 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004006.2 -1 reviewed p.T1647 0.381 304 0% 260 27.3% 2 0% - - - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat FAM47A 158724 genome.wustl.edu 37 X 34149302 34149302 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_203408.3 -1 validated p.A365V 0.001 261 0% 131 36.6% 0 - benign(0) tolerated(0.82) neutral(0.001) NULL FAM47B 170062 genome.wustl.edu 37 X 34962866 34962866 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152631.2 +1 validated p.D640Y 0.013 692 0% 367 27.2% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL CXorf59 286464 genome.wustl.edu 37 X 36091444 36091444 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173695.2 +1 validated p.G127* 0.366 355 0% 246 31.7% 0 - - - - NULL FAM47C 442444 genome.wustl.edu 37 X 37029406 37029406 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001013736.2 +1 validated p.G975C 0.015 580 0.2% 307 10.7% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL CYBB 1536 genome.wustl.edu 37 X 37655375 37655375 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000397.3 +1 reviewed p.L219I 0.999 328 0% 316 24.1% 9 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Ferric_reduct CXorf27 25763 genome.wustl.edu 37 X 37850307 37850307 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012274.1 +1 validated p.A72V 0.138 185 0.5% 108 30.6% 0 - possibly_damaging(0.949) deleterious(0) deleterious(0.838) superfamily_Histone-fold SYTL5 94122 genome.wustl.edu 37 X 37953664 37953664 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138780.2 +1 reviewed p.T316 0.922 433 0% 355 12.4% 0 - - - - NULL SRPX 8406 genome.wustl.edu 37 X 38033507 38033507 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006307.4 -1 validated p.C85 0.996 144 0% 93 11.8% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain RPGR 6103 genome.wustl.edu 37 X 38146513 38146513 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000339363 -1 known p.C785Y 0.000 77 0% 57 31.6% 0 - benign(0.15) tolerated(0.19) neutral(0.062) NULL RPGR 6103 genome.wustl.edu 37 X 38156698 38156698 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001034853.1 -1 reviewed p.S418Y 0.005 157 0% 101 10.9% 8 0% probably_damaging(0.994) tolerated(0.06) deleterious(0.774) NULL BCOR 54880 genome.wustl.edu 37 X 39916463 39916463 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001123385.1 -1 reviewed p.R1514* 0.936 119 0% 71 22.5% 61 1.6% - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat BCOR 54880 genome.wustl.edu 37 X 39932558 39932558 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001123385.1 -1 reviewed p.P681S 1.000 65 0% 14 35.7% 23 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL BCOR 54880 genome.wustl.edu 37 X 39934008 39934008 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001123385.1 -1 reviewed p.E197D 1.000 146 0% 73 26% 22 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL CXorf38 159013 genome.wustl.edu 37 X 40495962 40495962 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144970.2 -1 validated p.L208 0.763 77 0% 47 14.9% 18 0% - - - NULL MED14 9282 genome.wustl.edu 37 X 40552057 40552057 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004229.3 -1 reviewed p.A583V 0.000 146 0% 107 31.8% 21 0% benign(0) tolerated(0.35) neutral(0.021) NULL MED14 9282 genome.wustl.edu 37 X 40571531 40571531 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004229.3 -1 reviewed p.V266I 1.000 626 0.2% 392 25.8% 14 0% probably_damaging(0.962) deleterious(0) deleterious(0.850) NULL MED14 9282 genome.wustl.edu 37 X 40573902 40573902 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004229.3 -1 reviewed p.A137T 1.000 186 0% 104 20.2% 30 80% benign(0.202) tolerated(0.1) neutral(0.306) HMMPfam_MED14 USP9X 8239 genome.wustl.edu 37 X 41002675 41002675 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001039590.2 +1 reviewed p.L431 1.000 264 0.4% 165 27.3% 14 0% - - - NULL USP9X 8239 genome.wustl.edu 37 X 41055877 41055877 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001039590.2 +1 reviewed p.G1373 0.930 226 0% 183 26.2% 48 0% - - - NULL USP9X 8239 genome.wustl.edu 37 X 41075689 41075689 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001039590.2 +1 reviewed p.D1957N 1.000 365 0% 250 27.6% 64 1.5% possibly_damaging(0.672) deleterious(0.02) deleterious(0.621) superfamily_Cysteine proteinases DDX3X 1654 genome.wustl.edu 37 X 41203305 41203305 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001356.3 +1 reviewed p.R263H 1.000 214 0% 101 29.7% 112 29.4% probably_damaging(0.98) tolerated(0.07) deleterious(0.743) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases DDX3X 1654 genome.wustl.edu 37 X 41206134 41206134 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001356.3 +1 reviewed p.N546 0.999 342 0% 204 24.5% 119 36.1% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases CASK 8573 genome.wustl.edu 37 X 41414858 41414858 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003688.3 -1 reviewed p.R613* 1.000 166 0.6% 110 25.5% 3 0% - - - superfamily_SH3 CASK 8573 genome.wustl.edu 37 X 41469179 41469179 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003688.3 -1 reviewed p.Q378P 1.000 170 0% 104 11.5% 14 0% benign(0.071) tolerated(1) neutral(0.005) HMMSmart_L27,HMMPfam_L27,superfamily_SSF101288 CASK 8573 genome.wustl.edu 37 X 41485870 41485870 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003688.3 -1 reviewed p.D334 1.000 99 0% 68 26.5% 6 0% - - - NULL GPR34 2857 genome.wustl.edu 37 X 41554981 41554981 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001097579.1 +1 validated p.Q32R 0.000 232 0% 147 13.6% 3 0% benign(0.002) tolerated(0.06) neutral(0.323) superfamily_Family A G protein-coupled receptor-like KDM6A 7403 genome.wustl.edu 37 X 44919285 44919285 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021140.2 +1 reviewed p.P405S 1.000 72 0% 59 23.7% 4 25% possibly_damaging(0.465) tolerated(0.19) neutral(0.203) NULL KDM6A 7403 genome.wustl.edu 37 X 44921948 44921948 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021140.2 +1 reviewed p.M494I 1.000 139 0% 91 34.1% 6 66.6% benign(0.002) tolerated(0.28) neutral(0.032) NULL KDM6A 7403 genome.wustl.edu 37 X 44928919 44928919 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000433797 +1 known p.L316F 1.000 195 0% 126 35.7% 13 23% - - - NULL ZNF674 641339 genome.wustl.edu 37 X 46359306 46359306 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001039891.2 -1 validated p.R573I 0.041 171 0% 119 33.6% 3 100% benign(0.281) deleterious(0) deleterious(0.530) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF674 641339 genome.wustl.edu 37 X 46388266 46388266 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001039891.2 -1 validated p.L32I 0.996 189 0% 125 26.4% 3 0% possibly_damaging(0.892) deleterious(0.02) deleterious(0.734) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box SLC9A7 84679 genome.wustl.edu 37 X 46466504 46466504 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032591.1 -1 reviewed p.G687 0.037 85 2.4% 48 31.2% 7 100% - - - NULL PHF16 9767 genome.wustl.edu 37 X 46913930 46913930 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001077445.1 +1 reviewed p.P448H 1.000 151 0% 97 14.4% 12 33.3% benign(0.221) tolerated(0.05) neutral(0.367) NULL PHF16 9767 genome.wustl.edu 37 X 46917782 46917782 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001077445.1 +1 reviewed p.S592L 0.003 324 0.3% 215 11.6% 15 33.3% benign(0) tolerated(0.31) neutral(0.027) NULL UBA1 7317 genome.wustl.edu 37 X 47060743 47060743 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003334.3 +1 reviewed p.A219V 1.000 71 0% 21 33.3% 266 12.7% benign(0.004) deleterious(0.01) neutral(0.406) superfamily_MoeB USP11 8237 genome.wustl.edu 37 X 47098790 47098790 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004651.3 +1 reviewed p.G152 0.035 114 0.9% 59 30.5% 7 28.5% - - - HMMSmart_DUSP,HMMPfam_DUF1055 USP11 8237 genome.wustl.edu 37 X 47098846 47098846 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004651.3 +1 reviewed p.G171D 0.989 132 0% 69 33.3% 17 29.4% possibly_damaging(0.527) tolerated(0.06) deleterious(0.500) HMMSmart_DUSP,HMMPfam_DUF1055 USP11 8237 genome.wustl.edu 37 X 47101616 47101616 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004651.3 +1 reviewed p.C482R 1.000 101 0% 44 11.4% 22 22.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_UCH,superfamily_SSF54001 ZNF41 7592 genome.wustl.edu 37 X 47308390 47308390 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007130.2 -1 reviewed p.H260R 0.000 663 0% 380 13.9% 9 66.6% benign(0.427) tolerated(0.49) neutral(0.150) superfamily_C2H2 and C2HC zinc fingers ZNF41 7592 genome.wustl.edu 37 X 47308819 47308819 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007130.2 -1 reviewed p.H117R 0.781 197 0% 119 21.8% 5 100% benign(0.001) tolerated(0.47) neutral(0.011) NULL ARAF 369 genome.wustl.edu 37 X 47422681 47422681 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001654.3 +1 reviewed p.V51 0.880 42 0% 20 30% 72 0% - - - HMMPfam_RBD,HMMSmart_RBD,superfamily_SSF54236 SYN1 6853 genome.wustl.edu 37 X 47435577 47435577 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006950.3 -1 reviewed p.A371T 0.995 117 0% 54 22.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Synapsin_C,superfamily_Glutathione synthetase ATP-binding domain-like ZNF81 347344 genome.wustl.edu 37 X 47747452 47747452 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007137.3 +1 reviewed p.Q37* 0.700 185 0% 116 37.1% 0 - - - - HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF182 7569 genome.wustl.edu 37 X 47835606 47835606 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006962.1 -1 reviewed p.G627E 0.017 542 0% 386 33.2% 9 100% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) superfamily_SSF57667 ZNF182 7569 genome.wustl.edu 37 X 47837082 47837082 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006962.1 -1 reviewed p.R135H 0.000 195 0% 112 36.6% 6 0% benign(0) tolerated(0.55) neutral(0.007) NULL ZNF630 57232 genome.wustl.edu 37 X 47918712 47918712 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001037735.2 -1 validated p.K373N 0.984 284 0.4% 189 28% 2 100% probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_SSF57667 ZNF630 57232 genome.wustl.edu 37 X 47919273 47919273 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001037735.2 -1 validated p.K186 0.000 215 0% 122 28.7% 3 0% - - - NULL SSX1 6756 genome.wustl.edu 37 X 48125761 48125761 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005635.2 +1 reviewed p.R169H 0.005 1080 0.1% 635 25.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_SSXRD SSX3 10214 genome.wustl.edu 37 X 48214135 48214135 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021014.2 -1 reviewed p.K39T 0.107 582 0% 347 27.1% 0 - probably_damaging(0.975) deleterious(0.01) deleterious(0.823) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box SLC38A5 92745 genome.wustl.edu 37 X 48325238 48325238 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033518.2 -1 validated p.A89 0.021 43 0% 10 40% 6 0% - - - HMMPfam_Aa_trans EBP 10682 genome.wustl.edu 37 X 48382237 48382237 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006579.2 +1 reviewed p.R26 0.000 162 0.6% 81 35.8% 105 90.4% - - - NULL LOC729275 729275 genome.wustl.edu 37 X 48433568 48433568 + RNA SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XR_078586.1 -1 model NULL 0.994 50 0% 41 22% 231 0% - - - - RBM3 5935 genome.wustl.edu 37 X 48433980 48433980 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006743.3 +1 reviewed p.R45 0.999 99 0% 55 36.4% 307 0% - - - HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 WDR13 64743 genome.wustl.edu 37 X 48457146 48457146 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017883.4 +1 reviewed p.T28M 1.000 56 0% 42 11.9% 40 0% possibly_damaging(0.812) tolerated(0.18) neutral(0.361) NULL GATA1 2623 genome.wustl.edu 37 X 48650258 48650258 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002049.3 +1 reviewed p.Q76H 1.000 584 0% 301 14.6% 0 - possibly_damaging(0.913) deleterious(0) deleterious(0.809) NULL HDAC6 10013 genome.wustl.edu 37 X 48672893 48672893 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006044.2 +1 reviewed p.P285T 1.000 261 0% 136 11% 17 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hist_deacetyl,superfamily_SSF52768 HDAC6 10013 genome.wustl.edu 37 X 48674965 48674965 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006044.2 +1 reviewed p.C572 1.000 61 0% 31 29% 16 0% - - - HMMPfam_Hist_deacetyl,superfamily_SSF52768 HDAC6 10013 genome.wustl.edu 37 X 48682637 48682637 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006044.2 +1 reviewed p.P1171L 0.992 255 0% 125 31.2% 40 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-UBP,HMMSmart_ZnF_UBP SLC35A2 7355 genome.wustl.edu 37 X 48762367 48762367 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000447242 -1 known p.A127V 0.109 37 0% 14 35.7% 46 80.4% - - - NULL SLC35A2 7355 genome.wustl.edu 37 X 48762377 48762377 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005660.1 -1 provisional p.A270V 0.779 36 2.8% 13 30.8% 43 0% benign(0.001) tolerated(1) - HMMPfam_Nuc_sug_transp KCND1 3750 genome.wustl.edu 37 X 48823116 48823116 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000419374 -1 known p.C17Y 0.007 67 0% 29 27.6% 0 - benign(0.359) deleterious(0) deleterious(0.558) NULL CCDC120 90060 genome.wustl.edu 37 X 48920067 48920067 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033626.2 +1 reviewed p.R40W 0.999 91 0% 55 30.9% 9 0% probably_damaging(0.97) deleterious(0) deleterious(0.857) NULL WDR45 11152 genome.wustl.edu 37 X 48934320 48934320 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007075.3 -1 reviewed p.R110C 1.000 89 0% 52 13.5% 96 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_WD40,superfamily_WD40_like GPKOW 27238 genome.wustl.edu 37 X 48976108 48976108 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000327905 -1 known p.C164Y 0.998 31 0% 24 33.3% 34 0% - - - NULL PRICKLE3 4007 genome.wustl.edu 37 X 49032265 49032265 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000453382 -1 known p.R548C 0.041 275 0% 124 31.5% 16 87.5% - - - NULL PRICKLE3 4007 genome.wustl.edu 37 X 49034348 49034348 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006150.3 -1 reviewed p.H317N 1.000 342 0% 169 28.4% 11 81.8% benign(0.113) tolerated(0.56) neutral(0.015) HMMPfam_LIM,HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain) CACNA1F 778 genome.wustl.edu 37 X 49061649 49061649 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005183.2 -1 reviewed p.R1961H 0.118 36 0% 18 27.8% 0 - probably_damaging(0.988) tolerated(0.59) neutral(0.442) NULL CACNA1F 778 genome.wustl.edu 37 X 49071847 49071847 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005183.2 -1 reviewed p.A1142 1.000 185 0% 105 22.9% 0 - - - - superfamily_Voltage-gated potassium channels CACNA1F 778 genome.wustl.edu 37 X 49074456 49074456 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005183.2 -1 reviewed p.V990 0.562 115 0% 74 24.3% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1F 778 genome.wustl.edu 37 X 49083563 49083563 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005183.2 -1 reviewed p.A382V 1.000 82 0% 35 34.3% 0 - benign(0.428) tolerated(0.65) neutral(0.142) NULL AKAP4 8852 genome.wustl.edu 37 X 49957089 49957089 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003886.2 -1 reviewed p.V759I 0.998 195 0% 127 29.9% 0 - probably_damaging(0.971) deleterious(0.03) deleterious(0.777) HMMPfam_AKAP_110,HMMSmart_SM00807 AKAP4 8852 genome.wustl.edu 37 X 49957538 49957538 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003886.2 -1 reviewed p.P609Q 0.674 627 0% 390 25.4% 0 - probably_damaging(0.999) tolerated(0.1) deleterious(0.777) HMMPfam_AKAP_110,HMMSmart_SM00807 AKAP4 8852 genome.wustl.edu 37 X 49958668 49958668 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003886.2 -1 reviewed p.A232 1.000 701 0% 427 29% 0 - - - - HMMPfam_RII_binding_1,HMMSmart_SM00807 CCNB3 85417 genome.wustl.edu 37 X 50052736 50052736 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033031.2 +1 reviewed p.P523S 0.025 202 0% 151 27.8% 0 - probably_damaging(0.974) deleterious(0) deleterious(0.861) NULL CCNB3 85417 genome.wustl.edu 37 X 50056937 50056937 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033031.2 +1 reviewed p.V1169M 1.000 204 0% 172 33.1% 0 - possibly_damaging(0.473) deleterious(0.01) deleterious(0.561) HMMSmart_SM00385,HMMPfam_Cyclin_N,superfamily_Cyclin-like CCNB3 85417 genome.wustl.edu 37 X 50085296 50085296 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033031.2 +1 reviewed p.Q1204H 1.000 390 0% 218 12.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00385,HMMPfam_Cyclin_N,superfamily_Cyclin-like SHROOM4 57477 genome.wustl.edu 37 X 50341281 50341281 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020717.3 -1 reviewed p.E1399D 0.010 256 0% 153 26.8% 0 - probably_damaging(0.971) tolerated(0.2) neutral(0.462) HMMPfam_ASD2 SHROOM4 57477 genome.wustl.edu 37 X 50376549 50376549 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020717.3 -1 reviewed p.Q842K 0.943 305 0% 173 24.9% 3 0% possibly_damaging(0.643) deleterious(0.02) deleterious(0.609) NULL SHROOM4 57477 genome.wustl.edu 37 X 50378546 50378546 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020717.3 -1 reviewed p.P176H 1.000 75 0% 33 33.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL BMP15 9210 genome.wustl.edu 37 X 50659058 50659058 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005448.2 +1 reviewed p.Q210 0.115 410 0% 230 16.5% 0 - - - - NULL BMP15 9210 genome.wustl.edu 37 X 50659399 50659399 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005448.2 +1 reviewed p.C324Y 0.995 479 0.4% 213 28.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1,superfamily_SSF57501 GSPT2 23708 genome.wustl.edu 37 X 51487302 51487302 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018094.4 +1 reviewed p.V194I 0.000 136 0% 48 18.8% 0 - benign(0) tolerated(0.26) neutral(0.034) NULL GSPT2 23708 genome.wustl.edu 37 X 51487855 51487855 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018094.4 +1 reviewed p.G378D 1.000 261 0% 150 29.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_GTP_EFTU,superfamily_SSF52540 GSPT2 23708 genome.wustl.edu 37 X 51488494 51488494 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018094.4 +1 reviewed p.T591I 1.000 353 0% 175 22.9% 1 0% benign(0.014) tolerated(0.4) neutral(0.017) HMMPfam_GTP_EFTU_D3,superfamily_Elong_init_C ENSG00000245461 0 genome.wustl.edu 37 X 51488638 51488638 + RNA SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000502175 -1 novel NULL 1.000 181 0% 88 30.7% 0 - - - - - MAGED1 9500 genome.wustl.edu 37 X 51641396 51641396 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001005333.1 +1 reviewed p.A641V 1.000 119 0% 76 32.9% 260 0% unknown(0) tolerated(0.49) - HMMPfam_MAGE TSPYL2 64061 genome.wustl.edu 37 X 53115179 53115179 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022117.3 +1 reviewed p.N535 0.002 86 0% 46 21.7% 24 66.6% - - - NULL KDM5C 8242 genome.wustl.edu 37 X 53224235 53224235 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004187.3 -1 reviewed p.A1106T 1.000 105 0% 61 31.1% 63 58.7% benign(0.011) tolerated(0.62) neutral(0.005) NULL KDM5C 8242 genome.wustl.edu 37 X 53228264 53228264 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004187.3 -1 reviewed p.T713M 1.000 218 0% 101 38.6% 73 46.5% possibly_damaging(0.909) deleterious(0) deleterious(0.806) HMMPfam_zf-C5HC2 KDM5C 8242 genome.wustl.edu 37 X 53247579 53247579 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004187.3 -1 reviewed p.A77V 1.000 212 0% 153 20.9% 32 28.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ARID,superfamily_ARID-like IQSEC2 23096 genome.wustl.edu 37 X 53268428 53268428 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001111125.1 -1 validated p.R1022C 1.000 225 0% 110 22.7% 1 0% possibly_damaging(0.904) tolerated(0.2) neutral(0.407) HMMSmart_PH,superfamily_SSF50729 SMC1A 8243 genome.wustl.edu 37 X 53432886 53432886 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006306.2 -1 reviewed p.Y516 0.989 132 0.8% 87 10.3% 27 22.2% - - - HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_SMC_hinge,superfamily_SSF52540 SMC1A 8243 genome.wustl.edu 37 X 53448965 53448965 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000375340 -1 known p.W1R 0.090 118 0% 66 24.2% 1 0% unknown(0) - - NULL RIBC1 158787 genome.wustl.edu 37 X 53455491 53455491 + Nonsense_Mutation SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001031745.1 +1 provisional p.R154* 0.006 329 0% 150 13.3% 5 0% - - - HMMPfam_RIB43A HSD17B10 3028 genome.wustl.edu 37 X 53458422 53458422 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004493.2 -1 reviewed p.A239V 1.000 280 0% 123 29.3% 269 56.5% benign(0.031) tolerated(0.08) neutral(0.301) superfamily_NAD(P)-binding Rossmann-fold domains HSD17B10 3028 genome.wustl.edu 37 X 53460824 53460824 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004493.2 -1 reviewed p.A13T 0.814 56 0% 29 27.6% 113 53% benign(0.143) tolerated(0.11) neutral(0.284) HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains HUWE1 10075 genome.wustl.edu 37 X 53561082 53561082 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031407.4 -1 reviewed p.T4303I 1.000 238 0% 138 21% 209 0% unknown(0) deleterious(0) - HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain HUWE1 10075 genome.wustl.edu 37 X 53565352 53565352 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031407.4 -1 reviewed p.P3981H 1.000 124 0% 68 33.8% 191 90.5% unknown(0) deleterious(0) - NULL HUWE1 10075 genome.wustl.edu 37 X 53575022 53575022 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000427052 -1 known p.R2450W 0.958 106 0% 55 30.9% 73 0% - - - NULL HUWE1 10075 genome.wustl.edu 37 X 53596580 53596580 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031407.4 -1 reviewed p.A2174T 1.000 430 0% 240 12.1% 35 48.5% probably_damaging(0.978) tolerated(1) neutral(0.420) superfamily_ARM repeat HUWE1 10075 genome.wustl.edu 37 X 53602139 53602139 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031407.4 -1 reviewed p.A2025T 0.287 85 0% 49 26.5% 28 0% benign(0.002) tolerated(1) - superfamily_ARM repeat HUWE1 10075 genome.wustl.edu 37 X 53610721 53610721 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031407.4 -1 reviewed p.D1773Y 1.000 125 0% 72 31.9% 19 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat HUWE1 10075 genome.wustl.edu 37 X 53641672 53641672 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031407.4 -1 reviewed p.P695H 1.000 241 0.4% 136 26.5% 14 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DUF913 HUWE1 10075 genome.wustl.edu 37 X 53651562 53651562 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031407.4 -1 reviewed p.L556I 1.000 132 0% 82 24.4% 9 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DUF913,superfamily_ARM repeat HUWE1 10075 genome.wustl.edu 37 X 53674385 53674385 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031407.4 -1 reviewed p.L93F 1.000 391 0% 257 29.2% 13 0% probably_damaging(0.99) deleterious(0.03) deleterious(0.806) HMMPfam_DUF908 PHF8 23133 genome.wustl.edu 37 X 54028588 54028588 + Missense_Mutation SNP C C G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015107.2 -1 reviewed p.G381R 1.000 197 0% 97 29.9% 27 0% probably_damaging(0.999) tolerated(0.11) deleterious(0.762) NULL FAM120C 54954 genome.wustl.edu 37 X 54114297 54114297 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017848.4 -1 validated p.P843H 1.000 155 0% 104 28.8% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL WNK3 65267 genome.wustl.edu 37 X 54224923 54224923 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020922.4 -1 reviewed p.A1746V 0.370 238 0% 136 33.1% 2 50% benign(0) deleterious(0.01) neutral(0.406) NULL FGD1 2245 genome.wustl.edu 37 X 54472579 54472579 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004463.2 -1 reviewed p.E950A 0.847 114 0% 61 14.8% 8 62.5% unknown(0) deleterious(0) - NULL GNL3L 54552 genome.wustl.edu 37 X 54577464 54577464 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019067.5 +1 reviewed p.A282S 1.000 240 0.8% 130 28.5% 10 0% benign(0.081) tolerated(0.39) neutral(0.022) HMMPfam_MMR_HSR1,superfamily_SSF52540 ITIH6 347365 genome.wustl.edu 37 X 54783712 54783712 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198510.2 -1 reviewed p.T932N 0.000 230 0% 123 30.9% 0 - benign(0.035) - - NULL ITIH6 347365 genome.wustl.edu 37 X 54784197 54784197 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198510.2 -1 reviewed p.S770 0.000 484 0% 248 33.5% 0 - - - - NULL ALAS2 212 genome.wustl.edu 37 X 55035647 55035647 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000032.4 -1 reviewed p.N577S 1.000 48 0% 37 40.5% 0 - possibly_damaging(0.887) tolerated(0.15) deleterious(0.588) NULL ALAS2 212 genome.wustl.edu 37 X 55039945 55039945 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000032.4 -1 reviewed p.S525I 1.000 73 0% 54 14.8% 0 - possibly_damaging(0.803) deleterious(0.04) deleterious(0.651) HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases MAGEH1 28986 genome.wustl.edu 37 X 55479389 55479389 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014061.3 +1 reviewed p.N194K 0.007 129 0% 91 31.9% 6 0% benign(0.023) tolerated(0.29) neutral(0.030) NULL USP51 158880 genome.wustl.edu 37 X 55514688 55514688 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_201286.3 -1 validated p.R229C 1.000 174 0% 75 26.7% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL UBQLN2 29978 genome.wustl.edu 37 X 56591127 56591127 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013444.3 +1 reviewed p.D274A 1.000 150 0% 79 29.1% 37 97.2% probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL FAAH2 158584 genome.wustl.edu 37 X 57407425 57407425 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_174912.3 +1 reviewed p.S320F 0.966 477 0% 323 28.2% 8 75% possibly_damaging(0.61) deleterious(0) deleterious(0.656) HMMPfam_Amidase,superfamily_Amidase signature (AS) enzymes ARHGEF9 23229 genome.wustl.edu 37 X 62885777 62885777 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015185.2 -1 reviewed p.L349I 1.000 159 0% 91 20.9% 4 0% benign(0.023) tolerated(0.44) neutral(0.014) HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 ARHGEF9 23229 genome.wustl.edu 37 X 62944434 62944434 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_015185.2 -1 reviewed p.W56L 1.000 266 0% 169 18.9% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3 ASB12 142689 genome.wustl.edu 37 X 63445032 63445032 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_130388.2 -1 reviewed p.V158I 1.000 327 0% 153 24.8% 3 33.3% possibly_damaging(0.896) tolerated(0.09) deleterious(0.650) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK ASB12 142689 genome.wustl.edu 37 X 63445393 63445393 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_130388.2 -1 reviewed p.N37 0.154 209 0% 132 35.6% 0 - - - - superfamily_ANK MTMR8 55613 genome.wustl.edu 37 X 63576165 63576165 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017677.3 -1 reviewed p.G67 0.976 112 0% 111 13.5% 1 0% - - - superfamily_PH domain-like ZC4H2 55906 genome.wustl.edu 37 X 64138963 64138963 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018684.2 -1 validated p.R174W 0.977 124 0% 69 34.8% 9 88.8% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_zf-C4H2 ZC3H12B 340554 genome.wustl.edu 37 X 64717099 64717099 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001010888.3 +1 reviewed p.V221 1.000 167 0% 130 33.8% 0 - - - - NULL ZC3H12B 340554 genome.wustl.edu 37 X 64719765 64719765 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001010888.3 +1 reviewed p.F318C 1.000 781 0.1% 461 31.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZC3H12B 340554 genome.wustl.edu 37 X 64722360 64722360 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001010888.3 +1 reviewed p.N583K 0.999 200 0.5% 108 22.2% 1 0% benign(0.059) deleterious(0.03) neutral(0.368) NULL ZC3H12B 340554 genome.wustl.edu 37 X 64722506 64722506 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001010888.3 +1 reviewed p.G632D 1.000 157 0% 69 14.5% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL LAS1L 81887 genome.wustl.edu 37 X 64744105 64744105 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031206.4 -1 validated p.P377 0.211 107 0% 49 26.5% 58 0% - - - NULL LAS1L 81887 genome.wustl.edu 37 X 64749610 64749610 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_031206.4 -1 validated p.D221 0.003 610 0% 266 29.3% 30 93.3% - - - NULL MSN 4478 genome.wustl.edu 37 X 64951039 64951039 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002444.2 +1 reviewed p.R180C 1.000 55 0% 19 36.8% 26 3.8% possibly_damaging(0.85) deleterious(0) deleterious(0.772) PatternScan_FERM_2,HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41 MSN 4478 genome.wustl.edu 37 X 64951829 64951829 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002444.2 +1 reviewed p.I227 1.000 318 0% 136 27.9% 41 0% - - - HMMPfam_FERM_C,superfamily_SSF50729 VSIG4 11326 genome.wustl.edu 37 X 65252405 65252405 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007268.2 -1 reviewed p.P200L 0.989 358 0% 264 11% 12 0% benign(0.253) tolerated(0.28) neutral(0.057) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin VSIG4 11326 genome.wustl.edu 37 X 65253670 65253670 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007268.2 -1 reviewed p.R20C 0.000 246 0% 211 17.1% 12 0% benign(0.188) deleterious(0.02) neutral(0.401) HMMPfam_V-set,superfamily_Immunoglobulin HEPH 9843 genome.wustl.edu 37 X 65392289 65392289 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138737.3 +1 reviewed p.T90I 0.000 302 0.3% 214 25.7% 1 0% benign(0.051) tolerated(0.07) neutral(0.322) superfamily_Cupredoxins HEPH 9843 genome.wustl.edu 37 X 65423305 65423305 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138737.3 +1 reviewed p.R729H 0.000 204 0% 173 17.9% 2 0% benign(0.001) tolerated(0.08) neutral(0.300) superfamily_Cupredoxins HEPH 9843 genome.wustl.edu 37 X 65423311 65423311 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138737.3 +1 reviewed p.R731H 0.003 207 0% 177 29.9% 2 0% benign(0.002) tolerated(0.56) neutral(0.006) superfamily_Cupredoxins HEPH 9843 genome.wustl.edu 37 X 65423368 65423368 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138737.3 +1 reviewed p.C750Y 1.000 223 0% 179 22.3% 6 0% possibly_damaging(0.821) deleterious(0.02) deleterious(0.694) superfamily_Cupredoxins EDA2R 60401 genome.wustl.edu 37 X 65822579 65822579 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021783.2 -1 reviewed p.T138I 0.956 46 0% 23 43.5% 2 100% benign(0.027) tolerated(0.14) neutral(0.251) NULL STARD8 9754 genome.wustl.edu 37 X 67867769 67867769 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142503.2 +1 reviewed p.K15N 1.000 15 0% 13 30.8% 0 - possibly_damaging(0.815) - - NULL PJA1 64219 genome.wustl.edu 37 X 68382877 68382877 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_145119.3 -1 reviewed p.R69* 0.998 136 0% 87 26.4% 8 75% - - - NULL EDA 1896 genome.wustl.edu 37 X 69247876 69247876 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001399.4 +1 reviewed p.Q232H 0.984 39 0% 21 28.6% 0 - unknown(0) deleterious(0.02) - NULL AWAT2 158835 genome.wustl.edu 37 X 69261669 69261669 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001002254.1 -1 reviewed p.E331K 0.902 166 0% 93 23.7% 0 - benign(0) tolerated(0.99) - HMMPfam_DAGAT DGAT2L6 347516 genome.wustl.edu 37 X 69424179 69424179 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198512.1 +1 provisional p.S224 1.000 89 0% 64 17.2% 0 - - - - HMMPfam_DAGAT ARR3 407 genome.wustl.edu 37 X 69497577 69497577 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004312.2 +1 validated p.H207 0.157 66 0% 41 26.8% 0 - - - - HMMPfam_Arrestin_C,superfamily_E set domains KIF4A 24137 genome.wustl.edu 37 X 69626742 69626742 + Splice_Site SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012310.4 +1 reviewed e27-1 1.000 157 0% 100 24% 0 - - - - - FOXO4 4303 genome.wustl.edu 37 X 70320828 70320828 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005938.3 +1 reviewed p.A250T 0.925 85 0% 38 10.5% 17 11.7% probably_damaging(0.983) tolerated(0.32) neutral(0.453) NULL MED12 9968 genome.wustl.edu 37 X 70357464 70357464 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000444034 +1 known p.P156H 0.974 91 0% 39 25.6% 27 85.1% - - - NULL MED12 9968 genome.wustl.edu 37 X 70360644 70360644 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005120.2 +1 reviewed p.Q2068H 0.371 129 0% 81 34.6% 26 0% unknown(0) tolerated(0.24) - NULL NLGN3 54413 genome.wustl.edu 37 X 70367768 70367768 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018977.3 +1 reviewed p.P57S 1.000 48 0% 31 38.7% 0 - benign(0.146) tolerated(0.11) neutral(0.284) HMMPfam_COesterase,superfamily_SSF53474 NLGN3 54413 genome.wustl.edu 37 X 70384180 70384180 + Splice_Site SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018977.3 +1 reviewed e4+2 1.000 82 0% 44 45.5% 1 100% - - - - ZMYM3 9203 genome.wustl.edu 37 X 70460861 70460861 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005096.3 -1 reviewed p.D1340N 1.000 281 0% 144 13.2% 63 0% probably_damaging(0.959) deleterious(0.05) deleterious(0.748) NULL ZMYM3 9203 genome.wustl.edu 37 X 70469003 70469003 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005096.3 -1 reviewed p.Y496C 1.000 835 0% 363 25.1% 39 0% probably_damaging(0.995) tolerated(0.07) deleterious(0.776) HMMPfam_zf-FCS RGAG4 340526 genome.wustl.edu 37 X 71350303 71350303 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001024455.3 -1 validated p.R363M 0.000 116 0% 48 25% 1 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL NHSL2 340527 genome.wustl.edu 37 X 71359718 71359718 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001013627.2 +1 provisional p.P408S 1.000 183 0% 105 28.6% 1 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL NHSL2 340527 genome.wustl.edu 37 X 71360293 71360293 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001013627.2 +1 provisional p.Q599 0.002 94 0% 55 25.5% 0 - - - - NULL ERCC6L 54821 genome.wustl.edu 37 X 71425166 71425166 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017669.2 -1 validated p.L1151 0.000 533 0% 267 35.6% 9 0% - - - NULL NAP1L2 4674 genome.wustl.edu 37 X 72433307 72433307 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021963.2 -1 reviewed p.V341A 1.000 586 0% 337 28.5% 1 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_NAP CDX4 1046 genome.wustl.edu 37 X 72673353 72673353 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005193.1 +1 provisional p.G168E 0.999 144 0% 91 27.5% 0 - possibly_damaging(0.499) deleterious(0.01) deleterious(0.572) HMMPfam_Caudal_act CHIC1 53344 genome.wustl.edu 37 X 72797297 72797297 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001039840.2 +1 validated p.K117N 1.000 381 0% 337 12.5% 7 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Erf4 ZCCHC13 389874 genome.wustl.edu 37 X 73524410 73524410 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_203303.2 +1 reviewed p.D103E 0.226 210 0% 121 36.4% 0 - possibly_damaging(0.812) tolerated(0.14) deleterious(0.555) HMMPfam_zf-CCHC,HMMSmart_ZnF_C2HC,superfamily_SSF57756 KIAA2022 340533 genome.wustl.edu 37 X 73961969 73961969 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001008537.2 -1 validated p.P808L 1.000 934 0% 636 15.4% 0 - possibly_damaging(0.91) deleterious(0) deleterious(0.807) NULL KIAA2022 340533 genome.wustl.edu 37 X 73964123 73964123 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001008537.2 -1 validated p.A90D 0.999 413 0% 284 27.8% 1 100% benign(0.277) deleterious(0.01) neutral(0.435) NULL ABCB7 22 genome.wustl.edu 37 X 74334621 74334621 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004299.3 -1 reviewed p.G73C 0.042 95 0% 57 29.8% 8 0% possibly_damaging(0.558) deleterious(0.04) deleterious(0.539) NULL MAGEE2 139599 genome.wustl.edu 37 X 75003705 75003705 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138703.4 -1 validated p.E394D 0.053 482 0% 268 29.5% 0 - benign(0) tolerated(0.65) neutral(0.003) HMMPfam_MAGE MAGEE1 57692 genome.wustl.edu 37 X 75648525 75648525 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020932.2 +1 reviewed p.V68I 0.024 16 0% 15 40% 2 0% possibly_damaging(0.636) deleterious(0.02) deleterious(0.606) NULL MAGEE1 57692 genome.wustl.edu 37 X 75649149 75649149 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020932.2 +1 reviewed p.A276T 0.000 38 0% 19 26.3% 0 - possibly_damaging(0.86) tolerated(0.43) neutral(0.346) NULL MAGEE1 57692 genome.wustl.edu 37 X 75650085 75650085 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020932.2 +1 reviewed p.L588I 0.030 64 0% 31 22.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_MAGE MAGEE1 57692 genome.wustl.edu 37 X 75650882 75650882 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020932.2 +1 reviewed p.R853S 0.010 90 0% 47 25.5% 0 - probably_damaging(0.997) tolerated(0.53) deleterious(0.474) HMMPfam_MAGE MIR325 442899 genome.wustl.edu 37 X 76225862 76225862 + RNA SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000385260 -1 known NULL 0.998 709 0.1% 410 24.6% 0 - - - - - ATRX 546 genome.wustl.edu 37 X 76872183 76872183 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000489.3 -1 reviewed p.A1822T 1.000 297 0% 200 29.5% 26 0% benign(0) deleterious(0.02) neutral(0.383) HMMPfam_SNF2_N,superfamily_P-loop containing nucleoside triphosphate hydrolases ATRX 546 genome.wustl.edu 37 X 76938631 76938631 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000489.3 -1 reviewed p.S706N 0.001 822 0.1% 592 12.8% 6 33.3% possibly_damaging(0.704) tolerated(0.07) deleterious(0.573) NULL COX7B 1349 genome.wustl.edu 37 X 77155084 77155084 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001866.2 +1 reviewed p.L12I 0.978 101 0% 78 35.9% 376 87.5% possibly_damaging(0.757) tolerated(0.05) deleterious(0.625) HMMPfam_COX7B ATP7A 538 genome.wustl.edu 37 X 77243856 77243856 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000052.4 +1 reviewed p.P80H 0.999 866 0.1% 575 24.2% 1 0% possibly_damaging(0.949) tolerated(0.07) deleterious(0.712) NULL ATP7A 538 genome.wustl.edu 37 X 77245424 77245424 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000052.4 +1 reviewed p.E436* 1.000 352 0.3% 224 24.1% 1 100% - - - HMMPfam_HMA,superfamily_HMA heavy metal-associated domain ATP7A 538 genome.wustl.edu 37 X 77294363 77294363 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000052.4 +1 reviewed p.L1181I 1.000 982 0.1% 683 12.4% 0 - probably_damaging(0.964) deleterious(0.04) deleterious(0.755) HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M ATP7A 538 genome.wustl.edu 37 X 77301012 77301012 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000052.4 +1 reviewed p.S1390Y 1.000 885 0% 573 26.2% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PGK1 5230 genome.wustl.edu 37 X 77378836 77378836 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000291.3 +1 reviewed p.A301S 1.000 144 0% 109 12.8% 345 0% benign(0.016) tolerated(0.09) neutral(0.297) HMMPfam_PGK,superfamily_Phosphoglycerate kinase TBX22 50945 genome.wustl.edu 37 X 79278611 79278611 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001109878.1 +1 reviewed p.S76 0.001 114 0% 58 25.9% 0 - - - - NULL FAM46D 169966 genome.wustl.edu 37 X 79698692 79698692 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152630.4 +1 validated p.L218 0.079 237 0% 177 28.2% 0 - - - - HMMPfam_DUF1693 FAM46D 169966 genome.wustl.edu 37 X 79698895 79698895 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_152630.4 +1 validated p.N286S 0.999 322 0% 267 14.2% 0 - probably_damaging(0.958) tolerated(0.23) neutral(0.443) HMMPfam_DUF1693 BRWD3 254065 genome.wustl.edu 37 X 79948521 79948521 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153252.4 -1 reviewed p.A1061T 1.000 604 0% 378 24.9% 5 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL BRWD3 254065 genome.wustl.edu 37 X 79975093 79975093 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153252.4 -1 reviewed p.L647I 1.000 204 0% 125 28.8% 5 100% probably_damaging(1) tolerated(0.19) deleterious(0.549) superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase POU3F4 5456 genome.wustl.edu 37 X 82763697 82763697 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000307.3 +1 reviewed p.P122L 1.000 79 0% 42 16.7% 0 - benign(0) tolerated(0.82) neutral(0.001) NULL POU3F4 5456 genome.wustl.edu 37 X 82764363 82764363 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000307.3 +1 reviewed p.P344L 0.997 71 0% 48 29.2% 0 - benign(0.02) deleterious(0) neutral(0.446) superfamily_Homeodomain_like CYLC1 1538 genome.wustl.edu 37 X 83127951 83127951 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021118.1 +1 provisional p.H79Y 0.086 212 0% 174 26.4% 0 - benign(0.018) deleterious(0.04) neutral(0.349) NULL CYLC1 1538 genome.wustl.edu 37 X 83128850 83128850 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021118.1 +1 provisional p.K378N 0.003 298 0% 276 25.7% 0 - unknown(0) tolerated(0.34) - NULL RPS6KA6 27330 genome.wustl.edu 37 X 83374939 83374939 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014496.4 -1 reviewed p.R248I 1.000 242 0% 178 32.6% 0 - possibly_damaging(0.628) deleterious(0.02) deleterious(0.602) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HDX 139324 genome.wustl.edu 37 X 83616611 83616611 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144657.4 -1 validated p.R439C 1.000 124 0% 88 25% 5 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like CHM 1121 genome.wustl.edu 37 X 85166340 85166340 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000390.2 -1 reviewed p.M390I 1.000 132 0% 113 34.5% 6 100% possibly_damaging(0.604) deleterious(0.03) deleterious(0.574) HMMPfam_GDI,superfamily_SSF51905 KLHL4 56062 genome.wustl.edu 37 X 86924371 86924371 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_057162.2 +1 reviewed p.L714 0.002 306 0% 254 28.7% 0 - - - - HMMSmart_SM00612 PABPC5 140886 genome.wustl.edu 37 X 90690622 90690622 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080832.2 +1 reviewed p.L16I 1.000 81 0% 62 24.2% 0 - benign(0.003) tolerated(0.42) neutral(0.014) NULL PABPC5 140886 genome.wustl.edu 37 X 90691296 90691296 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080832.2 +1 reviewed p.G240 0.943 273 0% 111 28.8% 0 - - - - HMMPfam_RRM_1,HMMSmart_SM00360,HMMSmart_SM00361,superfamily_RNA-binding domain RBD PCDH11X 27328 genome.wustl.edu 37 X 91873396 91873396 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032968.3 +1 reviewed p.Q1167H 0.002 365 0.3% 175 34.3% 0 - benign(0.267) deleterious(0.01) neutral(0.434) NULL RPA4 29935 genome.wustl.edu 37 X 96139732 96139732 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013347.4 +1 reviewed p.E141D 0.000 196 0% 130 23.8% 0 - benign(0.177) deleterious(0.01) neutral(0.422) HMMPfam_tRNA_anti,superfamily_Nucleic_acid_OB RPA4 29935 genome.wustl.edu 37 X 96140003 96140003 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013347.4 +1 reviewed p.V232I 0.000 271 0% 147 10.2% 0 - benign(0) tolerated(0.41) neutral(0.015) HMMPfam_RPA_C,superfamily_SSF46785 DIAPH2 1730 genome.wustl.edu 37 X 96173602 96173602 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006729.4 +1 reviewed p.A322S 1.000 279 0.4% 204 32.8% 3 100% unknown(0) tolerated(0.78) - HMMPfam_Drf_FH3 PCDH19 57526 genome.wustl.edu 37 X 99662008 99662008 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001105243.1 -1 reviewed p.E530K 1.000 109 0% 37 24.3% 11 0% probably_damaging(0.973) deleterious(0.05) deleterious(0.760) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDH19 57526 genome.wustl.edu 37 X 99662372 99662372 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001105243.1 -1 reviewed p.D408 0.948 98 0% 31 19.4% 8 0% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDH19 57526 genome.wustl.edu 37 X 99662938 99662938 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001105243.1 -1 reviewed p.G220C 1.000 64 1.6% 33 27.3% 9 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin SRPX2 27286 genome.wustl.edu 37 X 99919936 99919936 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014467.2 +1 reviewed p.P174H 1.000 57 0% 29 31% 6 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module SYTL4 94121 genome.wustl.edu 37 X 99942229 99942229 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001129896.2 -1 reviewed p.S340N 1.000 265 0% 151 31.1% 7 0% possibly_damaging(0.919) deleterious(0) deleterious(0.814) NULL NOX1 27035 genome.wustl.edu 37 X 100118517 100118517 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007052.4 -1 reviewed p.P70H 0.991 84 0% 47 14.9% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ferric_reduct NOX1 27035 genome.wustl.edu 37 X 100125799 100125799 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007052.4 -1 reviewed p.V17A 0.623 394 0% 242 26.4% 0 - benign(0.004) tolerated(0.18) neutral(0.056) NULL CENPI 2491 genome.wustl.edu 37 X 100403130 100403130 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006733.2 +1 reviewed p.A692T 0.287 482 0% 301 30.6% 5 100% benign(0.033) tolerated(0.1) neutral(0.288) NULL DRP2 1821 genome.wustl.edu 37 X 100513425 100513425 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001939.2 +1 reviewed p.R840S 0.830 22 0% 12 33.3% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL BTK 695 genome.wustl.edu 37 X 100611138 100611138 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000061.2 -1 reviewed p.R490C 1.000 308 0.3% 157 35.7% 1 0% possibly_damaging(0.455) deleterious(0.04) deleterious(0.498) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like BTK 695 genome.wustl.edu 37 X 100630137 100630137 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000061.2 -1 reviewed p.R46C 1.000 578 0% 386 29% 3 0% unknown(0) deleterious(0) - HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 GLA 2717 genome.wustl.edu 37 X 100662783 100662783 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000169.2 -1 reviewed p.A37T 1.000 286 0% 179 22.3% 14 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_(Trans)glycosidases GLA 2717 genome.wustl.edu 37 X 100662847 100662847 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000169.2 -1 reviewed p.A15 0.000 220 0% 139 15.8% 26 0% - - - NULL HNRNPH2 3188 genome.wustl.edu 37 X 100666987 100666987 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001032393.1 +1 reviewed p.S4I 1.000 244 0.8% 118 11.9% 51 0% benign(0.008) deleterious(0.04) neutral(0.349) NULL HNRNPH2 3188 genome.wustl.edu 37 X 100668191 100668191 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001032393.1 +1 reviewed p.Q405H 0.993 765 0% 455 27.5% 115 1.7% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL ARMCX6 54470 genome.wustl.edu 37 X 100871579 100871579 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001009584.1 -1 validated p.A11V 0.961 232 0.4% 139 24.5% 21 0% probably_damaging(0.966) deleterious(0.01) deleterious(0.814) NULL ARMCX3 51566 genome.wustl.edu 37 X 100880541 100880541 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016607.3 +1 reviewed p.S191I 1.000 596 0% 335 23% 64 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF634,superfamily_ARM-type_fold ARMCX2 9823 genome.wustl.edu 37 X 100911496 100911496 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014782.5 -1 reviewed p.R360H 0.546 323 0% 192 11.5% 11 18.1% possibly_damaging(0.705) tolerated(0.13) deleterious(0.506) superfamily_ARM-type_fold NXF5 55998 genome.wustl.edu 37 X 101096244 101096244 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032946.2 -1 reviewed p.R127H 0.975 1537 0% 839 18.4% 1 0% probably_damaging(0.999) tolerated(0.29) deleterious(0.519) superfamily_L domain-like NXF5 55998 genome.wustl.edu 37 X 101096275 101096275 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032946.2 -1 reviewed p.S117P 1.000 1461 0% 764 19.4% 0 - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) superfamily_L domain-like NXF5 55998 genome.wustl.edu 37 X 101097758 101097758 + Missense_Mutation SNP G G A rs191549480 by1000genomes TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032946.2 -1 reviewed p.R3W 0.000 866 0% 429 29.4% 0 - benign(0.345) - - superfamily_RNA-binding domain RBD TCEAL2 140597 genome.wustl.edu 37 X 101382184 101382184 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080390.3 +1 reviewed p.R128C 0.931 622 0.2% 305 33.4% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_TFA NXF2 56001 genome.wustl.edu 37 X 101576775 101576775 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017809.3 +1 reviewed p.A424V 0.967 527 0% 232 11.6% 4 25% benign(0.114) deleterious(0.03) neutral(0.373) HMMPfam_NTF2,superfamily_SSF54427 ARMCX5 64860 genome.wustl.edu 37 X 101858297 101858297 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_022838.3 +1 validated p.Q410* 0.035 654 0.2% 502 16.3% 32 25% - - - HMMPfam_DUF634,superfamily_ARM repeat GPRASP1 9737 genome.wustl.edu 37 X 101908967 101908967 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001099410.1 +1 reviewed p.T42 0.049 412 0.2% 228 34.2% 1 100% - - - NULL GPRASP1 9737 genome.wustl.edu 37 X 101909127 101909127 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001099410.1 +1 reviewed p.A96T 0.011 537 0% 309 11% 1 0% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL GPRASP1 9737 genome.wustl.edu 37 X 101911770 101911770 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001099410.1 +1 reviewed p.D977Y 0.209 691 0.3% 369 29% 1 0% probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL GPRASP1 9737 genome.wustl.edu 37 X 101912185 101912185 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001099410.1 +1 reviewed p.Y1115C 0.814 980 0% 539 26.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GPRASP2 114928 genome.wustl.edu 37 X 101969872 101969872 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004051.2 +1 reviewed p.G25 0.135 248 0% 136 30.9% 3 100% - - - NULL GPRASP2 114928 genome.wustl.edu 37 X 101970083 101970083 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004051.2 +1 reviewed p.A96T 0.447 254 0% 135 31.1% 2 0% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL BHLHB9 80823 genome.wustl.edu 37 X 102004498 102004498 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142524.1 +1 validated p.P192H 0.984 1220 0.1% 667 13.6% 1 0% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL BEX4 56271 genome.wustl.edu 37 X 102471152 102471152 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001080425.2 +1 validated p.G24V 0.000 169 0% 90 18.9% 12 0% unknown(0) tolerated(0.29) - HMMPfam_BEX MORF4L2 9643 genome.wustl.edu 37 X 102931114 102931114 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001142418.1 -1 validated p.A281D 1.000 520 0% 285 17.2% 428 49% possibly_damaging(0.658) deleterious(0) deleterious(0.677) NULL GLRA4 441509 genome.wustl.edu 37 X 102977097 102977097 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001024452.2 -1 validated p.T234I 1.000 503 0.2% 240 30.4% 0 - benign(0.422) tolerated(0.12) neutral(0.398) HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like FAM199X 139231 genome.wustl.edu 37 X 103434400 103434400 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_207318.2 +1 validated p.V370M 1.000 205 0% 134 29.1% 37 100% probably_damaging(0.96) deleterious(0) deleterious(0.848) NULL ESX1 80712 genome.wustl.edu 37 X 103495396 103495396 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153448.3 -1 reviewed p.P245H 0.034 282 0% 161 37.3% 0 - unknown(0) tolerated(0.23) - NULL TEX13A 56157 genome.wustl.edu 37 X 104463857 104463857 + Missense_Mutation SNP T T G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000413579 -1 known p.D340A 0.010 298 0% 146 28.8% 0 - possibly_damaging(0.888) tolerated(0.06) deleterious(0.670) NULL NRK 203447 genome.wustl.edu 37 X 105150519 105150519 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198465.2 +1 validated p.R320* 0.859 51 0% 43 23.3% 0 - - - - superfamily_Protein kinase-like (PK-like) NRK 203447 genome.wustl.edu 37 X 105153357 105153357 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198465.2 +1 validated p.A575V 0.863 63 0% 41 39% 0 - benign(0.079) tolerated(0.08) neutral(0.305) NULL CXorf57 55086 genome.wustl.edu 37 X 105868322 105868322 + Silent SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018015.5 +1 validated p.T263 0.997 256 0% 160 28.1% 0 - - - - superfamily_Nucleic acid-binding proteins TBC1D8B 54885 genome.wustl.edu 37 X 106046129 106046129 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017752.2 +1 validated p.L16 1.000 151 0% 92 13% 1 0% - - - NULL CLDN2 9075 genome.wustl.edu 37 X 106171619 106171619 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020384.3 +1 reviewed p.C54Y 1.000 526 0% 308 15.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN TSC22D3 1831 genome.wustl.edu 37 X 106957873 106957873 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_198057.2 -1 reviewed p.N160S 1.000 526 0.4% 271 13.7% 44 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TSC22 MID2 11043 genome.wustl.edu 37 X 107159235 107159235 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012216.3 +1 reviewed p.V359 0.993 661 0% 466 26.4% 10 0% - - - HMMSmart_SM00502 MID2 11043 genome.wustl.edu 37 X 107169520 107169520 + Silent SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012216.3 +1 reviewed p.G598 0.987 246 0% 166 25.3% 2 0% - - - HMMPfam_SPRY,HMMSmart_SM00449 VSIG1 340547 genome.wustl.edu 37 X 107301303 107301303 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182607.4 +1 reviewed p.G29S 0.000 541 0% 422 10.4% 0 - benign(0) tolerated(0.85) neutral(0.001) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 ATG4A 115201 genome.wustl.edu 37 X 107381400 107381400 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_052936.2 +1 reviewed p.Y265H 1.000 274 0% 153 31.4% 15 93.3% benign(0.002) tolerated(0.33) neutral(0.024) HMMPfam_Peptidase_C54 COL4A6 1288 genome.wustl.edu 37 X 107418365 107418365 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001847.2 -1 reviewed p.G972C 1.000 539 0.2% 310 32.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Collagen COL4A6 1288 genome.wustl.edu 37 X 107431746 107431746 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001847.2 -1 reviewed e21+1 1.000 171 0% 108 25% 0 - - - - - ENSG00000189372 0 genome.wustl.edu 37 X 107627002 107627002 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000453808 +1 known p.D86Y 0.024 65 0% 37 21.6% 0 - benign(0.223) tolerated(0.4) neutral(0.038) HMMPfam_PLAT,HMMSmart_SM00308,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain) COL4A5 1287 genome.wustl.edu 37 X 107811878 107811878 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033380.1 +1 reviewed p.G99V 1.000 350 0.3% 226 26.5% 2 0% unknown(0) deleterious(0) - NULL COL4A5 1287 genome.wustl.edu 37 X 107834302 107834302 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033380.1 +1 reviewed p.G394S 1.000 396 0% 252 14.7% 2 100% unknown(0) deleterious(0) - NULL COL4A5 1287 genome.wustl.edu 37 X 107858159 107858159 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033380.1 +1 reviewed p.G805E 1.000 196 0% 162 24.7% 11 90.9% unknown(0) deleterious(0) - HMMPfam_Collagen IRS4 8471 genome.wustl.edu 37 X 107976063 107976063 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003604.2 -1 reviewed p.D1171G 0.000 122 0% 62 21% 0 - benign(0.001) tolerated(0.67) neutral(0.003) NULL GUCY2F 2986 genome.wustl.edu 37 X 108628472 108628472 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001522.2 -1 reviewed p.R999I 1.000 242 0% 166 33.7% 0 - possibly_damaging(0.538) deleterious(0) deleterious(0.627) HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain,PatternScan_GUANYLATE_CYCLASE_1 RGAG1 57529 genome.wustl.edu 37 X 109696752 109696752 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020769.2 +1 validated p.A969 0.712 805 0.1% 383 36% 0 - - - - NULL CAPN6 827 genome.wustl.edu 37 X 110489870 110489870 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014289.3 -1 reviewed p.A621T 0.997 445 0% 300 29% 13 38.4% benign(0.032) tolerated(0.47) neutral(0.012) superfamily_C2_CaLB CAPN6 827 genome.wustl.edu 37 X 110491855 110491855 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014289.3 -1 reviewed p.H476Y 1.000 246 0.4% 144 33.3% 7 0% benign(0.005) deleterious(0.01) neutral(0.406) HMMPfam_Calpain_III,HMMSmart_calpain_III,superfamily_Peptidase_C2,superfamily_C2_CaLB CAPN6 827 genome.wustl.edu 37 X 110494143 110494143 + Splice_Site SNP A A T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014289.3 -1 reviewed e7+2 0.996 1478 0.1% 890 14.7% 0 - - - - - DCX 1641 genome.wustl.edu 37 X 110574209 110574209 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000555.2 -1 reviewed p.P371H 0.987 608 0% 341 28.2% 0 - benign(0.241) tolerated(0.57) neutral(0.030) NULL DCX 1641 genome.wustl.edu 37 X 110653394 110653394 + Missense_Mutation SNP C C T rs104894784 byCluster TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000555.2 -1 reviewed p.R159H 1.000 815 0% 663 29.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DCX,HMMSmart_SM00537,superfamily_Doublecortin (DC) ALG13 79868 genome.wustl.edu 37 X 111000880 111000880 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000394780 +1 known p.V1013A 0.191 212 0% 143 11.9% 6 33.3% benign(0.003) tolerated(0.61) neutral(0.004) NULL AMOT 154796 genome.wustl.edu 37 X 112035161 112035161 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001113490.1 -1 reviewed p.A609T 1.000 591 0% 349 25.8% 10 0% possibly_damaging(0.792) deleterious(0) deleterious(0.742) NULL IL13RA2 3598 genome.wustl.edu 37 X 114239852 114239852 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000640.2 -1 reviewed p.L342I 0.000 286 0% 178 28.7% 0 - possibly_damaging(0.626) tolerated(0.55) neutral(0.225) NULL LRCH2 57631 genome.wustl.edu 37 X 114361449 114361449 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020871.3 -1 validated p.S583I 1.000 28 0% 20 20% 1 0% benign(0.411) deleterious(0.01) deleterious(0.538) NULL LRCH2 57631 genome.wustl.edu 37 X 114419069 114419069 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020871.3 -1 validated p.L176I 0.987 89 0% 54 25.9% 0 - probably_damaging(0.998) tolerated(0.7) deleterious(0.476) HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058 RBMXL3 139804 genome.wustl.edu 37 X 114424064 114424064 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001145346.1 +1 validated p.D20 0.890 14 0.000 7 0.571 0 - - - - HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 LUZP4 51213 genome.wustl.edu 37 X 114540795 114540795 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016383.3 +1 validated p.A123V 0.003 450 0% 236 28.4% 0 - benign(0.205) tolerated(0.09) neutral(0.317) NULL PLS3 5358 genome.wustl.edu 37 X 114863565 114863565 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001136025.3 +1 reviewed p.N98T 1.000 247 0% 169 10.7% 61 24.5% benign(0) tolerated(0.4) neutral(0.016) superfamily_EF-hand AGTR2 186 genome.wustl.edu 37 X 115304372 115304372 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000686.4 +1 reviewed p.A280V 1.000 421 0.2% 273 28.9% 0 - benign(0.018) tolerated(1) neutral(0.001) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like LOC653155 653155 genome.wustl.edu 37 X 115882567 115882567 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_926254.3 -1 model p.M89I 1.000 211 0% 123 26% 1 0% - - - HMMPfam_Pkinase WDR44 54521 genome.wustl.edu 37 X 117566793 117566793 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019045.4 +1 reviewed p.R596Q 1.000 911 0.1% 589 10.7% 14 0% probably_damaging(0.987) tolerated(0.17) deleterious(0.495) HMMSmart_SM00320,superfamily_WD40 repeat-like WDR44 54521 genome.wustl.edu 37 X 117577542 117577542 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_019045.4 +1 reviewed p.V802I 1.000 509 0% 323 28.8% 11 81.8% possibly_damaging(0.652) tolerated(1) neutral(0.229) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 DOCK11 139818 genome.wustl.edu 37 X 117762164 117762164 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144658.3 +1 validated p.E1235* 1.000 281 0% 147 34% 2 0% - - - NULL ENSG00000223499 0 genome.wustl.edu 37 X 118207880 118207880 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000419982 +1 known p.A198V 0.000 187 0% 100 11% 0 - - - - NULL KIAA1210 57481 genome.wustl.edu 37 X 118230567 118230567 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020721.1 -1 validated p.P386S 0.000 222 0.5% 130 26.9% 0 - probably_damaging(0.958) - - NULL KIAA1210 57481 genome.wustl.edu 37 X 118243137 118243137 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020721.1 -1 validated p.L227I 0.009 81 0% 59 20.3% 0 - benign(0.388) - - NULL KIAA1210 57481 genome.wustl.edu 37 X 118284525 118284525 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020721.1 -1 validated p.T6 0.000 113 0.9% 58 43.1% 0 - - - - NULL PGRMC1 10857 genome.wustl.edu 37 X 118370488 118370488 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006667.3 +1 reviewed p.S54 0.023 36 0% 13 30.8% 56 0% - - - NULL NKRF 55922 genome.wustl.edu 37 X 118724559 118724559 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017544.3 -1 reviewed p.R277C 0.905 295 0% 152 29.6% 14 0% possibly_damaging(0.848) deleterious(0.03) deleterious(0.690) superfamily_dsRNA-binding domain-like UPF3B 65109 genome.wustl.edu 37 X 118971927 118971927 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080632.1 -1 reviewed p.R365 0.887 599 0% 399 26.8% 9 0% - - - NULL UPF3B 65109 genome.wustl.edu 37 X 118972370 118972370 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_080632.1 -1 reviewed p.K323E 0.999 448 0% 234 15% 10 0% possibly_damaging(0.875) tolerated(0.54) neutral(0.348) NULL AKAP14 158798 genome.wustl.edu 37 X 119054507 119054507 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_178813.5 +1 reviewed p.K177N 0.112 279 0% 172 21.5% 1 0% benign(0.304) - - NULL ZBTB33 10009 genome.wustl.edu 37 X 119387829 119387829 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006777.3 +1 reviewed p.D187N 1.000 203 0% 132 21.2% 12 0% probably_damaging(0.978) deleterious(0.02) deleterious(0.803) NULL ZBTB33 10009 genome.wustl.edu 37 X 119388330 119388330 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_006777.3 +1 reviewed p.S354P 1.000 331 0% 190 29.5% 16 0% benign(0.008) tolerated(0.53) neutral(0.007) NULL MCTS1 28985 genome.wustl.edu 37 X 119742128 119742128 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001137554.1 +1 validated p.F105S 1.000 264 0% 173 10.4% 126 0.7% probably_damaging(0.981) deleterious(0) deleterious(0.870) HMMPfam_PUA,HMMSmart_PUA,superfamily_PUA-like CT47B1 643311 genome.wustl.edu 37 X 120008939 120008939 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001145718.1 -1 validated p.V196I 0.000 96 0% 50 30% 0 - possibly_damaging(0.792) tolerated(0.53) neutral(0.304) NULL GRIA3 2892 genome.wustl.edu 37 X 122538763 122538763 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000264357 +1 known p.G500W 1.000 574 0.2% 436 14.7% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II MIR220A 407005 genome.wustl.edu 37 X 122695977 122695977 + RNA SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000384922 -1 known NULL 1.000 269 0.4% 141 29.8% 0 - - - - - THOC2 57187 genome.wustl.edu 37 X 122801066 122801066 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001081550.1 -1 validated p.A361T 1.000 712 0% 407 28.7% 20 0% possibly_damaging(0.54) deleterious(0) deleterious(0.627) NULL ODZ1 10178 genome.wustl.edu 37 X 123554247 123554247 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014253.3 -1 reviewed p.G1625 0.989 174 0% 127 26.8% 0 - - - - superfamily_N2O_reductase_N ODZ1 10178 genome.wustl.edu 37 X 123587214 123587214 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014253.3 -1 reviewed p.S1352R 1.000 421 0% 263 27.4% 0 - probably_damaging(0.975) deleterious(0) deleterious(0.861) superfamily_SSF101898 ODZ1 10178 genome.wustl.edu 37 X 123654410 123654410 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014253.3 -1 reviewed p.T1086 0.017 589 0.2% 482 10.6% 0 - - - - NULL ODZ1 10178 genome.wustl.edu 37 X 124028159 124028159 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_014253.3 -1 reviewed p.A174D 1.000 390 0% 288 22.2% 0 - benign(0.025) tolerated(0.28) neutral(0.033) HMMPfam_Ten_N DCAF12L2 340578 genome.wustl.edu 37 X 125299121 125299121 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001013628.2 -1 reviewed p.R263C 0.435 84 0% 41 29.3% 0 - benign(0.017) tolerated(0.08) neutral(0.300) HMMSmart_WD40,superfamily_WD40_like DCAF12L2 340578 genome.wustl.edu 37 X 125299241 125299241 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001013628.2 -1 reviewed p.D223N 0.188 53 0% 26 19.2% 0 - probably_damaging(0.998) tolerated(0.61) deleterious(0.478) superfamily_WD40_like OCRL 4952 genome.wustl.edu 37 X 128695246 128695246 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000276.3 +1 reviewed p.L305 0.999 441 0.2% 256 25% 11 0% - - - HMMSmart_SM00128,HMMPfam_Exo_endo_phos,superfamily_DNase I-like XPNPEP2 7512 genome.wustl.edu 37 X 128902374 128902374 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003399.5 +1 reviewed p.E646D 0.988 84 0% 47 19.1% 1 0% probably_damaging(0.964) tolerated(0.13) deleterious(0.659) NULL BCORL1 63035 genome.wustl.edu 37 X 129147217 129147217 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021946.3 +1 reviewed p.A157T 0.042 416 0% 186 29% 0 - unknown(0) deleterious(0) - NULL BCORL1 63035 genome.wustl.edu 37 X 129150146 129150146 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021946.3 +1 reviewed p.Q1133R 0.001 41 0% 11 54.5% 0 - benign(0.069) deleterious(0) neutral(0.449) NULL SLC25A14 9016 genome.wustl.edu 37 X 129479166 129479166 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003951.2 +1 reviewed p.S29N 0.992 382 0% 254 27.2% 4 0% benign(0.025) deleterious(0.03) neutral(0.365) NULL ENOX2 10495 genome.wustl.edu 37 X 129771232 129771232 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182314.1 -1 reviewed p.L457M 1.000 663 0.2% 404 25% 10 80% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ARHGAP36 158763 genome.wustl.edu 37 X 130220541 130220541 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_144967.3 +1 validated p.R463H 0.012 590 0% 290 27.6% 0 - probably_damaging(0.995) tolerated(0.06) deleterious(0.780) NULL IGSF1 3547 genome.wustl.edu 37 X 130408127 130408127 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001555.4 -1 reviewed p.V1269M 0.992 988 0.2% 488 29.5% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL IGSF1 3547 genome.wustl.edu 37 X 130412499 130412499 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001555.4 -1 reviewed p.H659Q 1.000 296 0% 134 11.2% 0 - probably_damaging(0.991) tolerated(0.36) neutral(0.464) superfamily_Immunoglobulin OR13H1 347468 genome.wustl.edu 37 X 130678059 130678059 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001004486.1 +1 provisional p.D4 0.000 1097 0% 752 26.7% 0 - - - - superfamily_SSF81321 FRMD7 90167 genome.wustl.edu 37 X 131219674 131219674 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_194277.2 -1 reviewed p.A194T 1.000 404 0% 294 25.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF50729 RAP2C 57826 genome.wustl.edu 37 X 131348373 131348373 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_021183.3 -1 provisional p.E125D 1.000 208 0% 111 18.9% 20 0% possibly_damaging(0.906) tolerated(0.32) neutral(0.384) HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases MBNL3 55796 genome.wustl.edu 37 X 131524953 131524953 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018388.3 -1 reviewed p.Y231 1.000 307 0% 278 27% 11 0% - - - HMMPfam_zf-CCCH,HMMSmart_SM00356,superfamily_CCCH zinc finger HS6ST2 90161 genome.wustl.edu 37 X 131763060 131763060 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001077188.1 -1 reviewed p.H377Y 1.000 83 0% 62 30.6% 11 0% probably_damaging(0.993) deleterious(0.04) deleterious(0.799) HMMPfam_HS6ST HS6ST2 90161 genome.wustl.edu 37 X 132091281 132091281 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001077188.1 -1 reviewed p.V168I 1.000 60 0% 35 40% 9 0% probably_damaging(0.988) tolerated(0.21) deleterious(0.481) NULL TFDP3 51270 genome.wustl.edu 37 X 132351801 132351801 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016521.2 -1 reviewed p.R163C 1.000 244 0% 110 28.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_E2F_TDP,superfamily_SSF46785 MIR20B 574032 genome.wustl.edu 37 X 133303895 133303895 + RNA SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000384977 -1 known NULL 1.000 631 0% 386 30.8% 0 - - - - - CCDC160 347475 genome.wustl.edu 37 X 133379394 133379394 + Missense_Mutation SNP T T A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001101357.1 +1 provisional p.N188K 0.000 93 0% 62 19.4% 20 65% benign(0) tolerated(1) - NULL MOSPD1 56180 genome.wustl.edu 37 X 134030821 134030821 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000428384 -1 known p.P158 0.000 220 0% 128 24.2% 1 0% - - - NULL ZNF75D 7626 genome.wustl.edu 37 X 134421137 134421137 + Nonsense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007131.3 -1 reviewed p.R489* 0.000 524 0% 322 13.4% 9 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF75D 7626 genome.wustl.edu 37 X 134427911 134427911 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007131.3 -1 reviewed p.F52 0.044 406 0% 220 27.7% 6 0% - - - HMMPfam_SCAN,HMMSmart_SCAN DDX26B 203522 genome.wustl.edu 37 X 134680807 134680807 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182540.4 +1 validated p.G204* 1.000 421 0% 284 27.5% 1 0% - - - superfamily_vWA-like DDX26B 203522 genome.wustl.edu 37 X 134680810 134680810 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182540.4 +1 validated p.G205C 1.000 408 0.2% 276 27.9% 1 100% probably_damaging(0.993) deleterious(0) deleterious(0.895) superfamily_vWA-like DDX26B 203522 genome.wustl.edu 37 X 134706843 134706843 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182540.4 +1 validated p.T464I 1.000 281 0% 186 32.3% 5 0% benign(0.001) tolerated(0.4) neutral(0.016) NULL DDX26B 203522 genome.wustl.edu 37 X 134709041 134709041 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_182540.4 +1 validated p.G555S 1.000 651 0.3% 389 24.7% 3 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL LOC644717 644717 genome.wustl.edu 37 X 134772388 134772388 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002343850.1 -1 model p.N936D 0.005 282 0% 214 30.8% 0 - - - - NULL LOC644717 644717 genome.wustl.edu 37 X 134773110 134773110 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_002343850.1 -1 model p.R912 0.027 402 0% 290 21% 0 - - - - NULL GPR112 139378 genome.wustl.edu 37 X 135429092 135429092 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153834.3 +1 reviewed p.V1076A 0.000 2529 0% 2044 29.5% 0 - benign(0.002) tolerated(0.32) neutral(0.024) NULL GPR112 139378 genome.wustl.edu 37 X 135429816 135429816 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153834.3 +1 reviewed p.E1317D 0.032 1012 0% 788 31.3% 0 - benign(0.059) tolerated(0.77) neutral(0.005) NULL GPR112 139378 genome.wustl.edu 37 X 135432343 135432343 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_153834.3 +1 reviewed p.P2160T 0.032 470 0% 383 26.1% 0 - benign(0.231) deleterious(0.02) neutral(0.406) NULL BRS3 680 genome.wustl.edu 37 X 135574251 135574251 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001727.1 +1 validated p.A306D 0.562 498 0% 287 31% 1 100% benign(0) tolerated(0.64) neutral(0.003) HMMPfam_7tm_1,superfamily_SSF81321 VGLL1 51442 genome.wustl.edu 37 X 135631044 135631044 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016267.3 +1 reviewed p.L171F 0.008 449 0% 272 32.4% 0 - probably_damaging(0.977) deleterious(0.01) deleterious(0.825) NULL ARHGEF6 9459 genome.wustl.edu 37 X 135764992 135764992 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004840.2 -1 reviewed p.E468 1.000 289 0% 176 30.7% 4 25% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like GPR101 83550 genome.wustl.edu 37 X 136113459 136113459 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_054021.1 -1 validated p.V125 1.000 95 0% 40 27.5% 0 - - - - HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like SNURFL 727686 genome.wustl.edu 37 X 138444268 138444268 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000416227 +1 known p.A4T 0.000 72 0% 55 12.7% 0 - possibly_damaging(0.722) deleterious(0.02) deleterious(0.645) HMMPfam_SNURF SNURFL 727686 genome.wustl.edu 37 X 138444480 138444480 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000416227 +1 known p.Y74 0.000 76 0% 56 28.6% 0 - - - - NULL MCF2 4168 genome.wustl.edu 37 X 138679690 138679690 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001099855.1 -1 reviewed p.L722I 0.939 459 0% 403 26.1% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain MCF2 4168 genome.wustl.edu 37 X 138699864 138699864 + Splice_Site SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001099855.1 -1 reviewed e10-1 1.000 741 0.1% 670 28.2% 0 - - - - - LDOC1 23641 genome.wustl.edu 37 X 140271141 140271141 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_012317.2 -1 reviewed p.E22D 1.000 65 0% 32 31.2% 36 0% possibly_damaging(0.86) deleterious(0.02) deleterious(0.716) NULL MAGEC3 139081 genome.wustl.edu 37 X 140953353 140953353 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138702.1 +1 reviewed p.R74* 0.000 477 0% 247 26.3% 0 - - - - NULL MAGEC3 139081 genome.wustl.edu 37 X 140969479 140969479 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_138702.1 +1 reviewed p.G269D 0.000 543 0% 284 20.1% 0 - unknown(0) tolerated(0.26) - HMMPfam_MAGE MAGEC1 9947 genome.wustl.edu 37 X 140996048 140996048 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005462.4 +1 reviewed p.A953D 0.006 461 0.2% 247 33.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MAGE MAGEC2 51438 genome.wustl.edu 37 X 141291306 141291306 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_016249.3 -1 reviewed p.Y156 0.000 1046 0% 543 27.8% 0 - - - - HMMPfam_MAGE SLITRK4 139065 genome.wustl.edu 37 X 142716718 142716718 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173078.3 -1 reviewed p.T736N 1.000 349 0.3% 197 26.4% 4 100% benign(0.006) tolerated(0.12) neutral(0.261) NULL SLITRK4 139065 genome.wustl.edu 37 X 142717981 142717981 + Missense_Mutation SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_173078.3 -1 reviewed p.I315S 0.995 261 0% 146 27.4% 0 - possibly_damaging(0.553) tolerated(0.15) neutral(0.429) superfamily_L domain-like SPANXN2 494119 genome.wustl.edu 37 X 142795277 142795277 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001009615.1 -1 provisional p.S134Y 0.000 4759 0.1% 3052 18.9% 0 - unknown(0) deleterious(0.01) - NULL SPANXN2 494119 genome.wustl.edu 37 X 142795594 142795594 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001009615.1 -1 provisional p.Q28H 0.001 1096 0.4% 627 29.3% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_SPAN-X SPANXN2 494119 genome.wustl.edu 37 X 142803719 142803719 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001009615.1 -1 provisional p.S15I 0.000 260 0% 152 25% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_SPAN-X SLITRK2 84631 genome.wustl.edu 37 X 144904871 144904871 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001144003.2 +1 reviewed p.R310C 0.996 163 0% 90 27.8% 0 - probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL SLITRK2 84631 genome.wustl.edu 37 X 144906317 144906317 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001144003.2 +1 reviewed p.R792C 1.000 304 0.3% 148 30.4% 0 - probably_damaging(0.987) deleterious(0.03) deleterious(0.801) NULL ENSG00000252219 0 genome.wustl.edu 37 X 145074305 145074305 + RNA SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000516410 -1 novel NULL 0.000 281 0% 131 35.1% 0 - - - - - MIR514A1 574516 genome.wustl.edu 37 X 146360856 146360856 + RNA SNP A A C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000385133 -1 known NULL 0.001 134 0% 81 38.3% 0 - - - - - AFF2 2334 genome.wustl.edu 37 X 147743706 147743706 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002025.3 +1 reviewed p.R153I 1.000 1244 0.1% 698 12.8% 0 - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMPfam_AF-4 AFF2 2334 genome.wustl.edu 37 X 147967484 147967484 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002025.3 +1 reviewed p.T443I 0.994 589 0% 388 29.4% 2 0% benign(0.259) tolerated(0.39) neutral(0.043) HMMPfam_AF-4 TMEM185A 84548 genome.wustl.edu 37 X 148690441 148690441 + Missense_Mutation SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032508.2 -1 reviewed p.V97A 1.000 386 0% 264 36.7% 26 80.7% benign(0.385) deleterious(0.01) deleterious(0.528) HMMPfam_Tmemb_185A TMEM185A 84548 genome.wustl.edu 37 X 148693025 148693025 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_032508.2 -1 reviewed p.V52I 1.000 559 0% 363 30.9% 17 0% benign(0.366) deleterious(0.04) neutral(0.465) HMMPfam_Tmemb_185A MAGEA11 4110 genome.wustl.edu 37 X 148797885 148797885 + Nonsense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005366.4 +1 reviewed p.E247* 0.035 500 0.2% 248 33.5% 1 0% - - - HMMPfam_MAGE MAMLD1 10046 genome.wustl.edu 37 X 149639740 149639740 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_005491.3 +1 reviewed p.S632Y 0.051 226 0% 95 31.6% 1 0% possibly_damaging(0.444) deleterious(0) deleterious(0.590) NULL MTM1 4534 genome.wustl.edu 37 X 149807440 149807440 + Nonsense_Mutation SNP G G T rs132630307 TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000252.2 +1 reviewed p.E157* 1.000 882 0% 632 29.4% 6 0% - - - superfamily_SSF52799 MTM1 4534 genome.wustl.edu 37 X 149839964 149839964 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000252.2 +1 reviewed p.R570W 1.000 131 0% 99 12.1% 6 16.6% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL MTMR1 8776 genome.wustl.edu 37 X 149901188 149901188 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003828.2 +1 reviewed p.A348T 1.000 232 0% 125 20.8% 17 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myotub-related,superfamily_(Phosphotyrosine protein) phosphatases II GPR50 9248 genome.wustl.edu 37 X 150349681 150349681 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004224.3 +1 reviewed p.S542 0.006 521 0% 282 28.4% 0 - - - - PatternScan_TRYPSIN_HIS PRRG3 79057 genome.wustl.edu 37 X 150869125 150869125 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_024082.3 +1 validated p.Q106* 1.000 345 0% 157 14.6% 0 - - - - NULL FATE1 89885 genome.wustl.edu 37 X 150889958 150889958 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_033085.2 +1 reviewed p.R109H 0.000 98 0% 43 25.6% 0 - probably_damaging(0.998) tolerated(0.08) deleterious(0.774) NULL MIR452 574412 genome.wustl.edu 37 X 151128149 151128149 + RNA SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000385020 -1 known NULL 1.000 289 0% 162 31.5% 0 - - - - - GABRE 2564 genome.wustl.edu 37 X 151138727 151138727 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004961.3 -1 reviewed p.L68 0.004 444 0.2% 237 31.2% 0 - - - - NULL MAGEA10 4109 genome.wustl.edu 37 X 151303420 151303420 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001011543.1 -1 reviewed p.G225C 0.000 243 0% 135 29.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MAGE GABRQ 55879 genome.wustl.edu 37 X 151815615 151815615 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018558.2 +1 reviewed p.V171 0.683 161 0% 79 22.8% 0 - - - - HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD GABRQ 55879 genome.wustl.edu 37 X 151817795 151817795 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018558.2 +1 reviewed p.S203R 1.000 270 0% 139 33.8% 0 - possibly_damaging(0.839) deleterious(0) deleterious(0.765) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD GABRQ 55879 genome.wustl.edu 37 X 151821092 151821092 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018558.2 +1 reviewed p.S416Y 0.021 199 0% 121 35.5% 0 - possibly_damaging(0.922) deleterious(0) deleterious(0.816) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM GABRQ 55879 genome.wustl.edu 37 X 151821372 151821372 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_018558.2 +1 reviewed p.R509 0.002 172 0% 89 19.1% 0 - - - - HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM LOC100130935 100130935 genome.wustl.edu 37 X 151896333 151896333 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a XM_001721280.1 -1 model p.G94R 0.000 273 0% 134 32.1% 0 - - - - NULL NSDHL 50814 genome.wustl.edu 37 X 152031181 152031181 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001129765.1 +1 reviewed p.G152 0.000 280 0% 134 25.4% 56 85.7% - - - HMMPfam_3Beta_HSD,superfamily_NAD(P)-bd ZNF185 7739 genome.wustl.edu 37 X 152139048 152139048 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_007150.3 +1 reviewed p.T678I 0.987 378 0% 167 28.1% 0 - possibly_damaging(0.64) tolerated(0.15) neutral(0.465) HMMPfam_LIM,HMMSmart_SM00132 PNMA3 29944 genome.wustl.edu 37 X 152226036 152226036 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_013364.4 +1 reviewed p.C208 0.004 104 0% 31 35.5% 1 0% - - - NULL MAGEA1 4100 genome.wustl.edu 37 X 152482345 152482345 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_004988.4 -1 reviewed p.E222D 0.000 296 0% 126 27.8% 0 - benign(0.006) tolerated(0.2) neutral(0.049) HMMPfam_MAGE ABCD1 215 genome.wustl.edu 37 X 153001834 153001834 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000443684 +1 known p.T88M 0.002 31 0% 10 40% 5 20% - - - NULL L1CAM 3897 genome.wustl.edu 37 X 153128132 153128132 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000425.3 -1 reviewed p.V1254M 0.005 54 0% 16 43.8% 0 - benign(0.066) tolerated(0.06) neutral(0.327) NULL L1CAM 3897 genome.wustl.edu 37 X 153130062 153130062 + Silent SNP A A G novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000425.3 -1 reviewed p.H1048 0.810 141 0% 40 20% 0 - - - - superfamily_Fibronectin type III RENBP 5973 genome.wustl.edu 37 X 153205592 153205592 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002910.5 -1 reviewed p.R347H 0.000 48 0% 21 28.6% 9 0% benign(0) tolerated(0.14) neutral(0.249) superfamily_Six-hairpin glycosidases,HMMPfam_GlcNAc_2-epim HCFC1 3054 genome.wustl.edu 37 X 153217059 153217059 + Nonsense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000444191 -1 known p.W362* 1.000 22 0% 11 54.5% 66 6% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL TMEM187 8269 genome.wustl.edu 37 X 153247676 153247676 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_003492.2 +1 reviewed p.P55S 1.000 64 0% 41 12.2% 24 4.1% possibly_damaging(0.949) deleterious(0) deleterious(0.838) NULL MECP2 4204 genome.wustl.edu 37 X 153296265 153296265 + Silent SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001110792.1 -1 reviewed p.T350 0.994 106 0% 68 32.4% 27 0% - - - NULL MECP2 4204 genome.wustl.edu 37 X 153297985 153297985 + Splice_Site SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000427441 -1 known e2+2 0.997 157 0% 83 15.7% 11 54.5% probably_damaging(0.988) tolerated(0.17) deleterious(0.496) - OPN1MW 2652 genome.wustl.edu 37 X 153458963 153458963 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000513.2 +1 reviewed p.V270A 1.000 239 0% 81 39.5% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 OPN1MW2 728458 genome.wustl.edu 37 X 153496124 153496124 + Silent SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001048181.2 +1 reviewed p.Y284 0.843 242 0% 129 55.8% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 FLNA 2316 genome.wustl.edu 37 X 153580767 153580767 + Missense_Mutation SNP T T C novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001110556.1 -1 reviewed p.K2184R 0.954 42 2.4% 13 46.2% 211 0% benign(0.001) tolerated(0.83) neutral(0.001) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin FLNA 2316 genome.wustl.edu 37 X 153590636 153590636 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001110556.1 -1 reviewed p.A877V 1.000 23 0% 11 45.5% 81 0% benign(0.033) tolerated(0.35) neutral(0.022) HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin ATP6AP1 537 genome.wustl.edu 37 X 153663812 153663812 + Silent SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001183.4 +1 reviewed p.T388 0.000 86 0% 44 15.9% 369 42% - - - HMMPfam_ATP-synt_S1 ATP6AP1 537 genome.wustl.edu 37 X 153664154 153664154 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_001183.4 +1 reviewed p.L444M 1.000 282 0% 139 23.7% 381 0% possibly_damaging(0.829) deleterious(0.01) deleterious(0.720) HMMPfam_ATP-synt_S1 PLXNA3 55558 genome.wustl.edu 37 X 153695648 153695648 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017514.3 +1 reviewed p.R1092Q 0.000 14 0.000 9 0.444 20 0% benign(0) tolerated(0.59) neutral(0.004) HMMPfam_TIG,HMMSmart_IPT,superfamily_Ig_E-set PLXNA3 55558 genome.wustl.edu 37 X 153699880 153699880 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_017514.3 +1 reviewed p.D1807N 1.000 44 0% 20 40% 19 89.4% possibly_damaging(0.858) tolerated(1) neutral(0.331) superfamily_Rho_GAP,HMMPfam_Plexin_cytopl G6PD 2539 genome.wustl.edu 37 X 153760976 153760976 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000402.3 -1 reviewed p.R395C 1.000 55 0% 25 28% 45 68.8% possibly_damaging(0.844) deleterious(0.02) deleterious(0.707) HMMPfam_G6PD_C,superfamily_SSF55347 G6PD 2539 genome.wustl.edu 37 X 153762623 153762623 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000402.3 -1 reviewed p.R222C 0.584 59 0% 30 43.3% 56 0% benign(0.208) deleterious(0.01) neutral(0.426) HMMPfam_G6PD_N,superfamily_NAD(P)-bd CTAG2 30848 genome.wustl.edu 37 X 153880742 153880742 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_020994.3 -1 reviewed p.A145T 0.000 47 0% 22 22.7% 0 - unknown(0) deleterious(0) - NULL MPP1 4354 genome.wustl.edu 37 X 154007495 154007495 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002436.3 -1 reviewed p.A453V 0.990 245 0.4% 132 25.8% 13 0% probably_damaging(0.999) tolerated(0.45) deleterious(0.502) HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases MPP1 4354 genome.wustl.edu 37 X 154009925 154009925 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_002436.3 -1 reviewed p.H367Y 1.000 771 0% 405 24.7% 16 0% possibly_damaging(0.626) deleterious(0) deleterious(0.662) HMMPfam_Guanylate_kin,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases ENSG00000157576 0 genome.wustl.edu 37 X 154045595 154045595 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000378969 -1 known p.P28S 0.918 124 0% 52 32.7% 0 - - - - HMMPfam_HMG14_17,HMMSmart_SM00527,PatternScan_HMG14_17 F8 2157 genome.wustl.edu 37 X 154128200 154128200 + Missense_Mutation SNP G G A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000132.3 -1 reviewed p.L2072F 1.000 172 0% 124 28.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_F5_F8_type_C,HMMSmart_SM00231,superfamily_Galactose-binding domain-like F8 2157 genome.wustl.edu 37 X 154159445 154159445 + Missense_Mutation SNP G G T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000132.3 -1 reviewed p.L874I 0.003 426 0.2% 290 26.2% 1 100% probably_damaging(0.99) tolerated(0.08) deleterious(0.742) NULL F8 2157 genome.wustl.edu 37 X 154176099 154176099 + Missense_Mutation SNP C C A novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000132.3 -1 reviewed p.A663S 1.000 521 0.2% 323 29.4% 0 - probably_damaging(0.998) tolerated(0.27) deleterious(0.508) superfamily_Cupredoxins F8 2157 genome.wustl.edu 37 X 154221319 154221319 + Missense_Mutation SNP G G A rs137852393 TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a NM_000132.3 -1 reviewed p.P165S 0.997 806 0% 446 14.6% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Cupredoxins IL9R 3581 genome.wustl.edu 37 X 155233396 155233396 + Missense_Mutation SNP C C T novel TCGA-AP-A051-01A-21W-A027-09 TCGA-AP-A051-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 23e99481-0e73-41c9-8d1c-1bfcce0ade0c 83ba545f-c685-4ff6-a572-cf7ec796f45a ENST00000369423 +1 known p.P148L 0.058 58 0% 24 41.7% 1 0% benign(0) tolerated(0.41) neutral(0.015) NULL