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 RPL22 6146 ucsc.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T - - novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_000983.3 -1 reviewed p.K15fs 1 - - - - - - - - - HMMPfam_Ribosomal_L22e RNF207 388591 genome.wustl.edu 37 1 6269243 6269243 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_207396.2 +1 validated p.R180C 1.000 8 0.000 23 0.261 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_B-box zinc-binding domain SLC25A33 84275 genome.wustl.edu 37 1 9640106 9640106 + Missense_Mutation SNP T T C novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_032315.2 +1 validated p.S193P 1.000 297 0% 355 27.6% 15 60% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Mitoch_carrier,HMMPfam_Mito_carr ANGPTL7 10218 genome.wustl.edu 37 1 11249707 11249707 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_021146.2 +1 provisional p.A24V 0.476 57 0% 90 34.4% 0 - benign(0) tolerated(0.29) neutral(0.029) NULL PTCHD2 57540 genome.wustl.edu 37 1 11579857 11579857 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_020780.1 +1 validated p.G707D 0.999 37 0% 45 24.4% 3 0% benign(0.091) deleterious(0.02) neutral(0.390) HMMPfam_Patched PTCHD2 57540 genome.wustl.edu 37 1 11595586 11595586 + Missense_Mutation SNP G G T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_020780.1 +1 validated p.G1234V 1.000 20 0% 40 30% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain ARHGEF10L 55160 genome.wustl.edu 37 1 17982383 17982383 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_018125.3 +1 validated p.G831R 0.946 41 0% 70 11.4% 13 0% benign(0.002) tolerated(0.21) neutral(0.044) NULL MUL1 79594 genome.wustl.edu 37 1 20827664 20827664 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_024544.2 -1 validated p.A193V 1.000 63 0% 61 39.3% 36 41.6% benign(0.224) tolerated(0.06) neutral(0.345) NULL ASAP3 55616 genome.wustl.edu 37 1 23769086 23769086 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_017707.3 -1 reviewed p.R165C 0.999 116 0% 159 30.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA1522 57648 genome.wustl.edu 37 1 33235619 33235619 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_020888.2 +1 validated p.A280V 0.462 11 0% 12 50% 63 41.2% possibly_damaging(0.888) - - NULL MAP7D1 55700 genome.wustl.edu 37 1 36636621 36636621 + Silent SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_018067.3 +1 provisional p.D32 1.000 31 0% 76 22.4% 25 20% - - - NULL SNIP1 79753 genome.wustl.edu 37 1 38005964 38005964 + Silent SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_024700.2 -1 provisional p.R240 1.000 152 0% 169 34.9% 12 50% - - - NULL HIVEP3 59269 genome.wustl.edu 37 1 42048157 42048157 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_024503.3 -1 validated p.T771M 0.000 54 0% 60 43.3% 2 0% benign(0.003) tolerated(0.15) neutral(0.241) NULL MED8 112950 genome.wustl.edu 37 1 43853172 43853172 + Splice_Site SNP A A G novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_052877.3 -1 reviewed e3+2 1.000 364 0% 355 40.6% 0 - - - - - IPO13 9670 genome.wustl.edu 37 1 44433133 44433133 + Silent SNP T T C novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_014652.3 +1 reviewed p.P920 0.515 48 0% 61 36.1% 94 45.7% - - - NULL ZYG11A 440590 genome.wustl.edu 37 1 53308609 53308609 + Silent SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 ENST00000371528 +1 known p.D18 0.153 21 0% 56 17.9% 0 - - - - NULL JAK1 3716 genome.wustl.edu 37 1 65305333 65305333 + Missense_Mutation SNP A A C novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_002227.2 -1 reviewed p.L932R 1.000 646 0% 561 32.4% 24 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like ZRANB2 9406 genome.wustl.edu 37 1 71542541 71542541 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_203350.1 -1 validated p.A80T 1.000 412 0% 353 38% 33 39.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-RanBP,HMMSmart_SM00547,PatternScan_ZF_RANBP2_1,superfamily_Znf265 first zinc-finger domain F3 2152 genome.wustl.edu 37 1 94996100 94996100 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 ENST00000370207 -1 known p.S215* 0.022 317 0% 315 11.4% 83 24% - - - NULL CELSR2 1952 genome.wustl.edu 37 1 109793252 109793252 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001408.2 +1 reviewed p.P184L 1.000 98 0% 170 35.9% 14 42.8% probably_damaging(0.979) tolerated(0.23) neutral(0.463) superfamily_Cadherin MAGI3 260425 genome.wustl.edu 37 1 114201819 114201819 + Missense_Mutation SNP A A G novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001142782.1 +1 validated p.H916R 1.000 233 0% 255 32.5% 5 60% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ CSDE1 7812 genome.wustl.edu 37 1 115260812 115260812 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001130523.1 -1 validated p.R807H 1.000 282 0% 287 28.6% 422 40.5% probably_damaging(0.999) tolerated(0.17) deleterious(0.549) NULL PIAS3 10401 genome.wustl.edu 37 1 145584028 145584028 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_006099.3 +1 reviewed p.P420L 0.987 232 0% 246 32.5% 44 34% benign(0.025) deleterious(0.02) neutral(0.384) NULL GJA5 2702 genome.wustl.edu 37 1 147230417 147230417 + Missense_Mutation SNP T T A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_005266.5 -1 reviewed p.E310D 0.003 436 0% 387 35.9% 9 0% benign(0) tolerated(0.41) neutral(0.015) NULL VPS72 6944 genome.wustl.edu 37 1 151149369 151149369 + Silent SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_005997.1 -1 provisional p.R282 0.006 68 0% 88 18.2% 96 22.9% - - - NULL RAB13 5872 genome.wustl.edu 37 1 153958628 153958628 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_002870.2 -1 provisional p.A29T 1.000 185 0% 260 30% 80 43.7% benign(0.001) tolerated(0.07) neutral(0.319) HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 IGSF9 57549 genome.wustl.edu 37 1 159901336 159901336 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001135050.1 -1 validated p.R474* 1.000 39 0% 50 40% 3 33.3% - - - HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726 ARHGAP30 257106 genome.wustl.edu 37 1 161019369 161019371 + In_Frame_Del DEL AGA AGA - novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001025598.1 -1 validated p.F510in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL CDC73 79577 genome.wustl.edu 37 1 193111145 193111146 + Frame_Shift_Ins INS - - AG novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_024529.4 +1 reviewed p.V229fs 1.000:1.000 - - - - - - - - - NULL CFH 3075 genome.wustl.edu 37 1 196706714 196706714 + Missense_Mutation SNP G G T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_000186.3 +1 reviewed p.E902D 0.012 328 0% 223 34.1% 3 0% benign(0.019) tolerated(0.95) neutral(0.001) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain ASPM 259266 genome.wustl.edu 37 1 197057452 197057452 + Silent SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_018136.4 -1 reviewed p.G3365 0.856 249 0% 157 33.8% 8 62.5% - - - NULL LHX9 56956 genome.wustl.edu 37 1 197889148 197889148 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_020204.2 +1 reviewed p.C74Y 1.000 35 0% 60 15% 0 - probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) ATP2B4 493 genome.wustl.edu 37 1 203670029 203670029 + Silent SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001684.3 +1 reviewed p.D293 0.006 304 0% 315 36.5% 18 55.5% - - - HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transmembrane domain M PTPN14 5784 genome.wustl.edu 37 1 214560201 214560201 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_005401.4 -1 reviewed p.T351M 0.996 219 0% 219 10% 3 33.3% probably_damaging(0.997) tolerated(0.23) deleterious(0.508) superfamily_SSF50729 DUSP10 11221 genome.wustl.edu 37 1 221879739 221879739 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_007207.3 -1 reviewed p.R294Q 1.000 64 0% 86 32.6% 16 56.2% benign(0) tolerated(0.29) neutral(0.029) NULL PRSS38 339501 genome.wustl.edu 37 1 228003870 228003870 + Silent SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_183062.2 +1 validated p.S76 0.259 23 0% 33 54.5% 0 - - - - HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys KIAA1804 84451 genome.wustl.edu 37 1 233515137 233515137 + Silent SNP G G T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_032435.2 +1 validated p.L795 0.000 120 0% 105 31.4% 7 42.8% - - - NULL HEATR1 55127 genome.wustl.edu 37 1 236746393 236746393 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_018072.4 -1 validated p.A782V 0.003 246 0% 199 37.2% 4 75% benign(0) tolerated(0.87) neutral(0.001) NULL FMN2 56776 genome.wustl.edu 37 1 240256817 240256817 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_020066.4 +1 validated p.R470W 0.742 22 0% 28 25% 0 - unknown(0) deleterious(0) - NULL TP53I3 9540 genome.wustl.edu 37 2 24303662 24303662 + Missense_Mutation SNP T T C novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 ENST00000413037 -1 known p.R211G 0.978 106 0% 88 14.8% 4 25% benign(0.002) deleterious(0) neutral(0.445) NULL ADD2 119 genome.wustl.edu 37 2 70918057 70918057 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001617.3 -1 reviewed p.S237L 1.000 93 1.1% 83 31.3% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Aldolase_II,superfamily_AraD-like aldolase/epimerase MPHOSPH10 10199 genome.wustl.edu 37 2 71360483 71360483 + Missense_Mutation SNP A A G novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_005791.1 +1 reviewed p.Q182R 0.971 354 0% 277 36.1% 24 70.8% benign(0.001) tolerated(0.46) neutral(0.012) HMMPfam_Mpp10 DNAH6 1768 genome.wustl.edu 37 2 85012776 85012776 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001370.1 +1 validated p.R3666* 0.997 335 0% 289 33.2% 4 0% - - - HMMPfam_Dynein_heavy RGPD3 653489 genome.wustl.edu 37 2 107040695 107040695 + Missense_Mutation SNP G G T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001144013.1 -1 validated p.T1243N 0.889 202 0% 162 9.9% 7 0% probably_damaging(0.996) tolerated(0.06) deleterious(0.784) NULL STEAP3 55240 genome.wustl.edu 37 2 120003399 120003399 + Silent SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_182915.2 +1 validated p.K119 1.000 137 0% 174 35.6% 23 65.2% - - - HMMPfam_F420_oxidored,superfamily_NAD(P)-binding Rossmann-fold domains SAP130 79595 genome.wustl.edu 37 2 128712714 128712714 + Silent SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_024545.3 -1 validated p.A747 0.023 465 0% 552 38.4% 46 50% - - - NULL ORC4 5000 genome.wustl.edu 37 2 148696725 148696725 + Silent SNP T T C novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_002552.2 -1 reviewed p.K314 1.000 488 0% 402 34.6% 47 46.8% - - - NULL STAM2 10254 genome.wustl.edu 37 2 153003756 153003756 + Missense_Mutation SNP C C G novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_005843.4 -1 reviewed p.D123H 1.000 297 0% 258 35.7% 10 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_VHS,superfamily_ENTH/VHS domain,HMMSmart_SM00288 NFE2L2 4780 genome.wustl.edu 37 2 178098806 178098806 + Missense_Mutation SNP G G C novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_006164.3 -1 validated p.T80R 1.000 560 0% 507 36.9% 57 26.3% possibly_damaging(0.67) deleterious(0) deleterious(0.682) NULL TTN 7273 genome.wustl.edu 37 2 179431261 179431261 + Missense_Mutation SNP T T C novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 ENST00000356127 -1 known p.E23963G 1.000 248 0% 204 31.9% 0 - possibly_damaging(0.806) - - HMMPfam_fn3,HMMSmart_SM00060 MFSD6 54842 genome.wustl.edu 37 2 191301029 191301029 + Missense_Mutation SNP T T C novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_017694.3 +1 validated p.Y92H 1.000 157 0% 124 18.5% 5 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter ALS2 57679 genome.wustl.edu 37 2 202593272 202593273 + Frame_Shift_Ins INS - - A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_020919.3 -1 reviewed p.W935fs 1.000:1.000 - - - - - - - - - superfamily_PH domain-like NYAP2 57624 genome.wustl.edu 37 2 226378217 226378217 + Missense_Mutation SNP T T C novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_020864.1 +1 validated p.S118P 1.000 96 0% 119 36.1% 3 33.3% probably_damaging(0.98) tolerated(0.08) deleterious(0.724) NULL ALPPL2 251 genome.wustl.edu 37 2 233272616 233272616 + Silent SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_031313.2 +1 reviewed p.Y179 0.993 22 0% 44 38.6% 336 38.6% - - - HMMPfam_Alk_phosphatase,HMMSmart_alkPPc,superfamily_Alkaline_phosphatase_core THUMPD3 25917 genome.wustl.edu 37 3 9425985 9425987 + In_Frame_Del DEL TAC TAC - novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 TAC TAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001114092.1 +1 validated p.L444in_frame_del 0.835:0.005:0.935 - - - - - - - - - HMMPfam_UPF0020,superfamily_SSF53335 GOLGA4 2803 genome.wustl.edu 37 3 37323450 37323450 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_002078.4 +1 reviewed p.S55L 1.000 106 0% 93 22.6% 9 33.3% possibly_damaging(0.662) deleterious(0.02) deleterious(0.617) NULL DLEC1 9940 genome.wustl.edu 37 3 38151053 38151053 + Missense_Mutation SNP G G T rs141902795 by1000genomes TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_007337.2 +1 reviewed p.S1087I 1.000 146 0% 197 29.4% 1 100% probably_damaging(0.962) tolerated(0.19) neutral(0.455) NULL LARS2 23395 genome.wustl.edu 37 3 45557631 45557631 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_015340.3 +1 reviewed p.T636M 0.998 429 0% 419 32.7% 14 42.8% benign(0.094) tolerated(0.28) neutral(0.038) superfamily_SSF52374 COL7A1 1294 genome.wustl.edu 37 3 48623615 48623615 + Silent SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_000094.3 -1 reviewed p.P1205 0.003 27 0% 48 45.8% 6 16.6% - - - HMMPfam_VWA,superfamily_vWA-like DCBLD2 131566 genome.wustl.edu 37 3 98530395 98530395 + Missense_Mutation SNP C C T rs186169797 by1000genomes TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_080927.3 -1 validated p.R456H 1.000 604 0.2% 420 39.3% 32 65.6% benign(0.292) deleterious(0.01) deleterious(0.496) NULL TBC1D23 55773 genome.wustl.edu 37 3 100021057 100021057 + Missense_Mutation SNP C C A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_018309.2 +1 validated p.N413K 1.000 256 0.4% 240 36.7% 15 20% probably_damaging(0.956) deleterious(0.01) deleterious(0.805) superfamily_Rhodanese/Cell cycle control phosphatase BBX 56987 genome.wustl.edu 37 3 107520039 107520039 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 ENST00000416476 +1 known p.R547H 0.000 187 0% 155 31% 13 46.1% unknown(0) - - NULL C3orf17 25871 genome.wustl.edu 37 3 112738420 112738420 + Frame_Shift_Del DEL T T - novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_015412.3 -1 validated p.V26fs 0.000 - - - - - - - - - NULL EEFSEC 60678 genome.wustl.edu 37 3 128060156 128060156 + Silent SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_021937.3 +1 validated p.C289 0.900 60 0% 99 12.1% 23 8.6% - - - HMMPfam_GTP_EFTU_D2,superfamily_Translation proteins RAB7A 7879 genome.wustl.edu 37 3 128525227 128525227 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_004637.5 +1 reviewed p.A65T 1.000 241 0% 247 10.5% 269 5.2% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases TBL1XR1 79718 genome.wustl.edu 37 3 176768330 176768330 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_024665.4 -1 reviewed p.R166W 1.000 324 0% 313 32.3% 24 33.3% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 CCDC39 339829 genome.wustl.edu 37 3 180379669 180379669 + Nonsense_Mutation SNP C C A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_181426.1 -1 validated p.E113* 0.994 314 0% 285 33.7% 1 0% - - - NULL ABCC5 10057 genome.wustl.edu 37 3 183663705 183663705 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_005688.2 -1 reviewed p.T1146M 1.000 297 0% 272 11.4% 6 16.6% probably_damaging(0.986) tolerated(0.06) deleterious(0.757) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ECE2 9718 genome.wustl.edu 37 3 183975406 183975406 + Silent SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_014693.3 +1 validated p.V114 0.061 70 0% 78 29.5% 33 57.5% - - - HMMPfam_Methyltransf_11,superfamily_S-adenosyl-L-methionine-dependent methyltransferases SORCS2 57537 genome.wustl.edu 37 4 7705052 7705052 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_020777.2 +1 reviewed p.V572M 0.998 159 0% 215 33.5% 5 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00602,superfamily_Oligoxyloglucan reducing end-specific cellobiohydrolase LOC650293 650293 genome.wustl.edu 37 4 8951792 8951792 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001040071.1 +1 provisional p.H106Y 0.001 571 0% 554 35.6% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 TMPRSS11F 389208 genome.wustl.edu 37 4 68938082 68938082 + Missense_Mutation SNP T T C novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_207407.2 -1 validated p.Q158R 0.027 334 0% 228 34.6% 0 - benign(0.026) tolerated(0.57) neutral(0.007) HMMPfam_SEA,HMMSmart_SEA,superfamily_SSF82671 RUFY3 22902 genome.wustl.edu 37 4 71628262 71628262 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001037442.2 +1 validated p.R69C 1.000 331 0.6% 290 42.4% 3 33.3% probably_damaging(1) tolerated(0.06) deleterious(0.823) NULL FAM13A 10144 genome.wustl.edu 37 4 89941610 89941610 + Splice_Site DEL C C - novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_014883.2 -1 validated e3+1 1.000 - - - - - - - - - - DAPP1 27071 genome.wustl.edu 37 4 100756888 100756889 + Frame_Shift_Del DEL CT CT - novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_014395.2 +1 validated p.S73fs 1.000:1.000 - - - - - - - - - HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain INTS12 57117 genome.wustl.edu 37 4 106604429 106604429 + Missense_Mutation SNP A A T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001142471.1 -1 validated p.S284T 1.000 80 0% 56 46.4% 15 40% probably_damaging(0.979) tolerated(0.2) deleterious(0.471) NULL NDST4 64579 genome.wustl.edu 37 4 115767075 115767075 + Silent SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_022569.1 -1 provisional p.S673 0.852 316 0.3% 276 35.1% 0 - - - - HMMPfam_Sulfotransfer_1,superfamily_SSF52540 TRPC3 7222 genome.wustl.edu 37 4 122853582 122853582 + Silent SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001130698.1 -1 validated p.R277 0.998 50 0% 64 29.7% 0 - - - - HMMPfam_TRP_2 FAT4 79633 genome.wustl.edu 37 4 126400925 126400925 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_024582.4 +1 validated p.R4168H 0.002 216 0% 197 32.5% 0 - benign(0.22) tolerated(0.19) neutral(0.071) HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases PABPC4L 132430 genome.wustl.edu 37 4 135121448 135121448 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001114734.1 -1 validated p.A243T 1.000 174 0% 136 32.4% 0 - - - - HMMPfam_RRM_1,HMMSmart_SM00360,HMMSmart_SM00361,superfamily_RNA-binding domain RBD KIAA0922 23240 genome.wustl.edu 37 4 154523475 154523475 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_015196.3 +1 validated p.R812H 0.995 419 0.2% 389 30.3% 6 33.3% probably_damaging(1) deleterious(0.05) deleterious(0.845) NULL KLHL2 11275 genome.wustl.edu 37 4 166220777 166220777 + Frame_Shift_Del DEL C C - novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_007246.3 +1 validated p.R298fs 1.000 - - - - - - - - - superfamily_Gal_oxid_central WWC2 80014 genome.wustl.edu 37 4 184129246 184129246 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_024949.5 +1 validated p.A128T 1.000 185 0% 164 31.7% 1 100% benign(0.264) deleterious(0) deleterious(0.472) NULL SORBS2 8470 genome.wustl.edu 37 4 186559306 186559306 + Missense_Mutation SNP A A G novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_003603.5 -1 reviewed p.I278T 1.000 417 0% 341 29.6% 1 100% benign(0) tolerated(0.22) neutral(0.042) NULL PDCD6 10016 genome.wustl.edu 37 5 306868 306868 + Silent SNP A A G novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 ENST00000502359 +1 known p.Q51R 1.000 40 0% 53 18.9% 316 12% - - - HMMSmart_SM00054,HMMPfam_efhand,superfamily_EF-hand FASTKD3 79072 genome.wustl.edu 37 5 7867081 7867081 + Silent SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_024091.2 -1 validated p.C372 0.901 205 0% 180 30% 8 50% - - - NULL ENSG00000249556 0 genome.wustl.edu 37 5 14652550 14652550 + RNA SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 ENST00000515374 +1 novel NULL 1.000 103 0% 97 27.8% 0 - - - - - CDH18 1016 genome.wustl.edu 37 5 19571762 19571762 + Silent SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_004934.3 -1 reviewed p.Y393 0.955 320 0% 304 33.9% 0 - - - - HMMPfam_Cadherin,superfamily_Cadherin TARS 6897 genome.wustl.edu 37 5 33453456 33453456 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_152295.3 +1 reviewed p.R131H 1.000 253 0% 246 30.9% 65 46.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TGS,superfamily_TGS-like NIPBL 25836 genome.wustl.edu 37 5 37052503 37052503 + Missense_Mutation SNP G G T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_133433.3 +1 reviewed p.Q2366H 0.996 181 0% 150 43.3% 25 16% probably_damaging(0.964) tolerated(0.08) deleterious(0.706) superfamily_ARM repeat CENPK 64105 genome.wustl.edu 37 5 64814373 64814373 + Silent SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_022145.3 -1 validated p.L247 0.997 473 0% 376 35.6% 12 33.3% - - - NULL PIK3R1 5295 genome.wustl.edu 37 5 67589304 67589307 + Frame_Shift_Del DEL ACCA ACCA - novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 ACCA ACCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_181523.1 +1 reviewed p.Q432fs 1.000:1.000:1.000:1.000 - - - - - - - - - NULL PIK3R1 5295 genome.wustl.edu 37 5 67591135 67591135 + Frame_Shift_Del DEL G G - novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_181523.1 +1 reviewed p.R577fs 0.016 - - - - - - - - - NULL SV2C 22987 genome.wustl.edu 37 5 75594749 75594749 + Missense_Mutation SNP A A G novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_014979.1 +1 provisional p.T545A 1.000 413 0% 377 33.7% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter AP3B1 8546 genome.wustl.edu 37 5 77409577 77409577 + Missense_Mutation SNP T T C novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_003664.3 -1 reviewed p.S750G 0.225 359 0% 318 32.4% 9 11.1% benign(0.053) tolerated(0.09) neutral(0.300) NULL ZFYVE16 9765 genome.wustl.edu 37 5 79751541 79751541 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001105251.1 +1 validated p.G1213D 1.000 561 0% 481 37.2% 13 15.3% benign(0) tolerated(0.24) neutral(0.037) NULL ARRDC3 57561 genome.wustl.edu 37 5 90670759 90670759 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_020801.2 -1 validated p.R284C 1.000 209 0% 150 40% 39 38.4% probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_Arrestin_C,superfamily_Ig_E-set TTC37 9652 genome.wustl.edu 37 5 94842693 94842693 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_014639.2 -1 provisional p.A1013T 0.063 450 0% 386 36.5% 13 46.1% benign(0) tolerated(0.58) neutral(0.005) HMMPfam_TPR_1,HMMSmart_TPR,superfamily_Prenyl_trans MEGF10 84466 genome.wustl.edu 37 5 126792988 126792989 + In_Frame_Ins INS - - CAG novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_032446.2 +1 validated p.1138in_frame_insS 0.157:0.185 - - - - - - - - - NULL PCDHA4 56144 genome.wustl.edu 37 5 140188623 140188623 + Silent SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_018907.2 +1 reviewed p.G617 0.000 42 0% 78 38.5% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHB3 56132 genome.wustl.edu 37 5 140481136 140481136 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_018937.2 +1 reviewed p.M301I 0.029 83 0% 52 11.5% 0 - benign(0) tolerated(1) - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHB6 56130 genome.wustl.edu 37 5 140531969 140531969 + Silent SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_018939.2 +1 reviewed p.L711 0.939 47 0% 71 29.6% 4 0% - - - NULL ENSG00000251462 0 genome.wustl.edu 37 5 140621697 140621697 + RNA SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 ENST00000503443 -1 known NULL 0.015 22 0% 30 30% 0 - - - - - PCDHGA1 56114 genome.wustl.edu 37 5 140710396 140710396 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_018912.2 +1 reviewed p.A49T 0.288 169 0% 181 42.5% 0 - benign(0.015) deleterious(0.02) neutral(0.384) HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like ENSG00000241956 0 genome.wustl.edu 37 5 164028109 164028109 + RNA SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 ENST00000486913 +1 known NULL 1.000 56 1.8% 64 39.1% 0 - - - - - RMND5B 64777 genome.wustl.edu 37 5 177565142 177565143 + Frame_Shift_Del DEL GA GA - novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_022762.3 +1 provisional p.E10fs 1.000:1.000 - - - - - - - - - NULL ADAMTS2 9509 genome.wustl.edu 37 5 178554963 178554963 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_014244.2 -1 reviewed p.G872R 1.000 106 0% 114 19.3% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat TRIM41 90933 genome.wustl.edu 37 5 180660759 180660759 + Silent SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 ENST00000514219 +1 known p.E51K 0.980 130 0% 173 38.2% 36 30.5% - - - NULL KIAA0319 9856 genome.wustl.edu 37 6 24563703 24563703 + Silent SNP A A G novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_014809.3 -1 reviewed p.G825 0.000 107 0% 99 40.4% 3 100% - - - NULL HLA-DOB 3112 genome.wustl.edu 37 6 32782828 32782828 + Silent SNP C C A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 ENST00000447394 -1 known p.E105* 0.976 66 0% 94 36.2% 2 0% - - - superfamily_MHC antigen-recognition domain FGD2 221472 genome.wustl.edu 37 6 36982459 36982459 + Silent SNP C C A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_173558.3 +1 validated p.S287 0.991 107 0% 133 37.6% 5 0% - - - HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) TCTE1 202500 genome.wustl.edu 37 6 44253985 44253985 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_182539.3 -1 validated p.V188M 1.000 20 0% 27 22.2% 6 50% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52047 COL12A1 1303 genome.wustl.edu 37 6 75844500 75844500 + Silent SNP G G T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 ENST00000419671 -1 known p.R557S 0.758 363 0% 302 14.9% 43 20.9% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TPBG 7162 genome.wustl.edu 37 6 83075636 83075636 + Silent SNP C C A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_006670.4 +1 reviewed p.R320 0.057 159 0% 128 21.1% 72 26.3% - - - HMMPfam_LRRCT,HMMSmart_SM00082,superfamily_L domain-like SLC16A10 117247 genome.wustl.edu 37 6 111498811 111498811 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 ENST00000419619 +1 known p.C181Y 1.000 93 1.1% 35 57.1% 0 - probably_damaging(0.954) deleterious(0.02) deleterious(0.780) HMMPfam_MFS_1,superfamily_MFS general substrate transporter FAM26E 254228 genome.wustl.edu 37 6 116836819 116836819 + Silent SNP T T C novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_153711.2 +1 validated p.C199 0.978 415 0% 341 32% 2 0% - - - NULL RSPH4A 345895 genome.wustl.edu 37 6 116938331 116938331 + Missense_Mutation SNP A A G novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001010892.2 +1 reviewed p.Q182R 0.008 214 0% 234 37.2% 24 62.5% possibly_damaging(0.918) deleterious(0.04) deleterious(0.718) NULL C6orf170 221322 genome.wustl.edu 37 6 121642830 121642830 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_152730.4 -1 validated p.G89D 1.000 617 0% 448 34.2% 4 75% possibly_damaging(0.945) tolerated(0.12) deleterious(0.650) NULL VNN2 8875 genome.wustl.edu 37 6 133078922 133078922 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_004665.2 -1 reviewed p.A34V 0.711 332 0% 277 28.5% 0 - probably_damaging(0.968) tolerated(0.16) deleterious(0.469) superfamily_Ntlse/CNhydtse TAB2 23118 genome.wustl.edu 37 6 149718860 149718860 + Missense_Mutation SNP G G T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_015093.4 +1 reviewed p.R575M 1.000 268 0% 255 34.5% 11 36.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SYNE1 23345 genome.wustl.edu 37 6 152464786 152464786 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_182961.2 -1 reviewed p.P8364L 1.000 283 0% 252 16.3% 3 0% possibly_damaging(0.671) deleterious(0.01) deleterious(0.643) superfamily_Spectrin repeat TIAM2 26230 genome.wustl.edu 37 6 155577787 155577787 + Silent SNP C C A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_012454.3 +1 reviewed p.P1546 0.042 73 1.4% 72 47.2% 4 0% - - - NULL WDR27 253769 genome.wustl.edu 37 6 169982939 169982939 + Missense_Mutation SNP G G A rs147471495 by1000genomes TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_182552.3 -1 validated p.A839V 0.000 66 0% 89 28.1% 4 75% benign(0.156) tolerated(0.3) neutral(0.043) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 CARD11 84433 genome.wustl.edu 37 7 2946424 2946424 + Silent SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_032415.3 -1 validated p.L1105 0.999 28 0% 52 15.4% 4 0% - - - superfamily_SSF52540 DNAH11 8701 genome.wustl.edu 37 7 21892155 21892155 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_003777.3 +1 reviewed p.R3663H 1.000 275 0% 288 33.7% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL GGCT 79017 genome.wustl.edu 37 7 30540210 30540210 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_024051.2 -1 provisional p.D77N 1.000 531 0.2% 436 36.7% 69 23.1% benign(0.396) tolerated(0.11) neutral(0.399) HMMPfam_AIG2,superfamily_BtrG-like (Pfam 03674) EPDR1 54749 genome.wustl.edu 37 7 37988590 37988590 + Missense_Mutation SNP G G T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_017549.3 +1 reviewed p.G260W 1.000 228 0% 166 28.9% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ependymin NPC1L1 29881 genome.wustl.edu 37 7 44578992 44578992 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_013389.2 -1 reviewed p.T335I 0.000 138 0% 132 33.3% 0 - benign(0.001) tolerated(0.22) neutral(0.042) NULL MYO1G 64005 genome.wustl.edu 37 7 45005293 45005293 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_033054.2 -1 validated p.P775L 0.994 57 0% 106 37.7% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL C7orf57 136288 genome.wustl.edu 37 7 48080988 48080988 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001100159.1 +1 validated p.A38V 0.001 87 0% 118 39% 9 33.3% possibly_damaging(0.811) tolerated(0.69) neutral(0.307) NULL ZNF273 10793 genome.wustl.edu 37 7 64389506 64389582 + RNA DEL GAGTTTTCCTTATTGCACAGGAAAGCATTTATACTTGAGAAAAATTGTATAAAGAATGGAAAAGTCATTAATATCTG GAGTTTTCCTTATTGCACAGGAAAGCATTTATACTTGAGAAAAATTGTATAAAGAATGGAAAAGTCATTAATATCTG - novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 GAGTTTTCCTTATTGCACAGGAAAGCATTTATACTTGAGAAAAATTGTATAAAGAATGGAAAAGTCATTAATATCTG GAGTTTTCCTTATTGCACAGGAAAGCATTTATACTTGAGAAAAATTGTATAAAGAATGGAAAAGTCATTAATATCTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NR_003099.1 +1 reviewed NULL 0.142:0.144:0.147:0.149:0.151:0.152:0.160:0.118:0.128:0.128:0.140:0.173:0.189:0.178:0.074:0.039:0.042:0.047:0.045:0.013:0.008:0.007:0.008:0.009:0.007:0.007:0.020:0.049:0.051:0.033:0.032:0.027:0.028:0.020:0.007:0.003:0.002:0.002:0.006:0.007:0.003:0.004:0.003:0.002:0.001:0.000:0.000:0.002:0.003:0.006:0.007:0.009:0.009:0.007:0.007:0.009:0.009:0.008:0.008:0.017:0.034:0.044:0.050:0.053:0.051:0.070:0.079:0.101:0.113:0.130:0.143:0.163:0.166:0.271:0.289:0.298:0.294 - - - - - - - - - - ZNF498 221785 genome.wustl.edu 37 7 99227118 99227118 + Silent SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_145115.2 +1 validated p.H370 0.777 67 0% 60 36.7% 5 80% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers GIGYF1 64599 genome.wustl.edu 37 7 100284334 100284335 + In_Frame_Ins INS - - CCT novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_022574.4 -1 validated p.211in_frame_insE 1.000:1.000 - - - - - - - - - NULL DENND2A 27147 genome.wustl.edu 37 7 140221708 140221708 + Missense_Mutation SNP T T C novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_015689.3 -1 validated p.Q953R 1.000 63 0% 60 36.7% 11 18.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_dDENN,HMMSmart_SM00801 CASP2 835 genome.wustl.edu 37 7 143000990 143000990 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_032982.2 +1 reviewed p.R361C 0.915 184 0% 190 33.7% 21 38% benign(0.085) deleterious(0) neutral(0.451) HMMPfam_Peptidase_C14,HMMSmart_SM00115,superfamily_Caspase-like OR2A5 393046 genome.wustl.edu 37 7 143748064 143748064 + Silent SNP T T C novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_012365.1 +1 provisional p.A190 0.026 267 0% 226 30.5% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SSPO 23145 genome.wustl.edu 37 7 149520473 149520473 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 ENST00000378016 +1 known p.A4431T 0.936 54 0% 73 38.4% 0 - - - - superfamily_Serine proterase inhibitors KCNH2 3757 genome.wustl.edu 37 7 150649877 150649877 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_000238.2 -1 reviewed p.W398* 1.000 79 0% 115 40% 5 0% - - - NULL ASB10 136371 genome.wustl.edu 37 7 150878314 150878314 + Silent SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001142459.1 -1 reviewed p.R317 1.000 20 0% 42 21.4% 0 - - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat MYOM2 9172 genome.wustl.edu 37 8 2005570 2005570 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_003970.2 +1 validated p.R123H 0.001 31 0% 62 33.9% 0 - possibly_damaging(0.938) deleterious(0) deleterious(0.828) NULL LZTS1 11178 genome.wustl.edu 37 8 20112432 20112432 + Silent SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_021020.2 -1 reviewed p.S87 0.993 104 0% 138 30.4% 0 - - - - NULL XPO7 23039 genome.wustl.edu 37 8 21843131 21843131 + Silent SNP A A G novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001100161.1 +1 validated p.A511 0.854 249 0% 238 31.5% 26 34.6% - - - superfamily_ARM repeat NEFL 4747 genome.wustl.edu 37 8 24810424 24810426 + In_Frame_Del DEL CTT CTT - novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 ENST00000221169 -1 known p.E510in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL INTS9 55756 genome.wustl.edu 37 8 28638445 28638445 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_018250.3 -1 reviewed p.Q389* 1.000 162 0% 186 31.7% 18 0% - - - NULL RNF122 79845 genome.wustl.edu 37 8 33406944 33406944 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_024787.2 -1 reviewed p.H113Y 1.000 111 0% 136 40.4% 45 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_RING,HMMPfam_zf-C3HC4,superfamily_SSF57850 SNAI2 6591 genome.wustl.edu 37 8 49831459 49831459 + Silent SNP T T C novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_003068.3 -1 reviewed p.V238 1.000 359 0% 342 34.5% 7 0% - - - superfamily_C2H2 and C2HC zinc fingers OPRK1 4986 genome.wustl.edu 37 8 54147414 54147414 + Missense_Mutation SNP G G T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_000912.3 -1 validated p.P172H 1.000 221 0% 213 34.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 CHD7 55636 genome.wustl.edu 37 8 61765995 61765995 + Silent SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_017780.2 +1 reviewed p.S2237 0.437 145 0% 163 37.4% 3 33.3% - - - NULL LACTB2 51110 genome.wustl.edu 37 8 71553220 71553220 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_016027.2 -1 validated p.R220* 0.987 152 0% 96 35.4% 9 0% - - - superfamily_SSF56281 STAU2 27067 genome.wustl.edu 37 8 74585345 74585348 + Frame_Shift_Del DEL TGAT TGAT - novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 TGAT TGAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_014393.2 -1 reviewed p.N103fs 1.000:1.000:1.000:1.000 - - - - - - - - - HMMPfam_dsrm,HMMSmart_SM00358,superfamily_dsRNA-binding domain-like FABP9 646480 genome.wustl.edu 37 8 82371490 82371490 + Missense_Mutation SNP T T C novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001080526.1 -1 provisional p.I52M 0.997 498 0% 426 30.5% 0 - probably_damaging(0.994) tolerated(0.15) deleterious(0.693) HMMPfam_Lipocalin,superfamily_Calycin TRPS1 7227 genome.wustl.edu 37 8 116631584 116631584 + Silent SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_014112.2 -1 reviewed p.N247 0.886 215 0% 205 31.7% 8 50% - - - HMMSmart_ZnF_C2H2 KLHL38 340359 genome.wustl.edu 37 8 124657995 124657995 + Frame_Shift_Del DEL G G - novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001081675.2 -1 validated p.T577fs 0.000 - - - - - - - - - NULL CYP11B2 1585 genome.wustl.edu 37 8 143994060 143994060 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_000498.3 -1 reviewed p.W428* 1.000 90 0% 116 34.5% 0 - - - - HMMPfam_p450,superfamily_Cytochrome P450 JAK2 3717 genome.wustl.edu 37 9 5080679 5080679 + Silent SNP T T C novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_004972.3 +1 reviewed p.T810 0.991 222 0% 124 16.9% 1 0% - - - superfamily_Kinase_like JAK2 3717 genome.wustl.edu 37 9 5089784 5089784 + Missense_Mutation SNP C C G novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_004972.3 +1 reviewed p.D894E 1.000 318 0% 290 34.1% 2 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like GLDC 2731 genome.wustl.edu 37 9 6533049 6533049 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_000170.2 -1 reviewed p.P1011S 1.000 395 0% 381 37.8% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL FREM1 158326 genome.wustl.edu 37 9 14746951 14746951 + Silent SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_144966.5 -1 reviewed p.I2036 0.000 242 0% 197 27.4% 1 0% - - - NULL KIAA1797 54914 genome.wustl.edu 37 9 20978378 20978378 + Silent SNP C C A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_017794.3 +1 validated p.T1434 0.843 169 0% 165 12.7% 20 35% - - - superfamily_ARM-type_fold RPP25L 138716 genome.wustl.edu 37 9 34610959 34610959 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_148178.1 -1 validated p.R112H 1.000 28 0% 32 37.5% 49 40.8% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SSF82704 TLN1 7094 genome.wustl.edu 37 9 35703883 35703883 + Silent SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_006289.3 -1 reviewed p.N2082 0.998 365 0% 455 34.7% 152 29.6% - - - NULL ALDH1B1 219 genome.wustl.edu 37 9 38397249 38397249 + Missense_Mutation SNP T T C novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_000692.3 +1 reviewed p.Y502H 0.998 66 0% 76 34.2% 45 33.3% probably_damaging(0.984) deleterious(0) deleterious(0.875) HMMPfam_Aldedh,superfamily_ALDH-like GCNT1 2650 genome.wustl.edu 37 9 79117925 79117925 + Missense_Mutation SNP T T G novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001097633.1 +1 reviewed p.W210G 1.000 109 0% 85 41.2% 23 43.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Branch FAM75D1 389763 genome.wustl.edu 37 9 84605990 84605990 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001001670.2 +1 validated p.P202L 0.004 794 0% 812 33.7% 0 - probably_damaging(0.998) tolerated(0.05) deleterious(0.820) NULL AUH 549 genome.wustl.edu 37 9 93983250 93983250 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001698.2 -1 reviewed p.A227V 0.984 79 0% 68 14.7% 39 7.6% benign(0.007) tolerated(0.09) neutral(0.296) HMMPfam_ECH,superfamily_ClpP/crotonase PTCH1 5727 genome.wustl.edu 37 9 98218673 98218673 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_000264.3 -1 reviewed p.T1064M 1.000 84 0% 80 37.5% 9 33.3% probably_damaging(0.997) deleterious(0.04) deleterious(0.815) HMMPfam_Patched,superfamily_SSF82866 ZNF367 195828 genome.wustl.edu 37 9 99160475 99160475 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_153695.3 -1 validated p.S181* 1.000 314 0% 311 37.9% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF462 58499 genome.wustl.edu 37 9 109688057 109688057 + Missense_Mutation SNP A A G novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_021224.4 +1 validated p.K622E 1.000 341 0% 329 34.3% 0 - possibly_damaging(0.892) deleterious(0) deleterious(0.796) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_beta-sandwich domain of Sec23/24 PAPPA 5069 genome.wustl.edu 37 9 118950132 118950132 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_002581.3 +1 reviewed p.R372H 0.975 38 0% 47 27.7% 1 0% possibly_damaging(0.598) tolerated(0.12) neutral(0.468) superfamily_SSF55486 DAB2IP 153090 genome.wustl.edu 37 9 124532972 124532972 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_032552.2 +1 validated p.Q655* 1.000 45 0% 52 50% 13 0% - - - NULL ANGPTL2 23452 genome.wustl.edu 37 9 129856160 129856160 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_012098.2 -1 reviewed p.T288I 1.000 67 0% 84 20.2% 17 0% benign(0.007) tolerated(0.13) neutral(0.253) HMMPfam_Fibrinogen_C,HMMSmart_FBG,superfamily_Fibrinogen_a/b/g_C STXBP1 6812 genome.wustl.edu 37 9 130425628 130425628 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_003165.3 +1 reviewed p.R192W 1.000 78 0% 73 34.2% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins TOR1B 27348 genome.wustl.edu 37 9 132569491 132569491 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_014506.1 +1 provisional p.G164S 1.000 292 0.3% 334 36.2% 13 69.2% benign(0.333) deleterious(0.02) deleterious(0.487) HMMSmart_AAA,HMMPfam_Torsin,superfamily_SSF52540 LAMC3 10319 genome.wustl.edu 37 9 133952658 133952658 + Silent SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_006059.3 +1 reviewed p.T1238 0.016 55 0% 55 34.5% 4 0% - - - NULL ACBD5 91452 genome.wustl.edu 37 10 27504518 27504518 + Silent SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_145698.3 -1 validated p.S294 1.000 503 0% 450 31.6% 19 52.6% - - - NULL MARCH8 220972 genome.wustl.edu 37 10 45959711 45959711 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001002265.1 -1 validated p.T73M 1.000 163 0% 180 36.1% 5 40% probably_damaging(0.96) deleterious(0.02) deleterious(0.786) superfamily_SSF57850 OIT3 170392 genome.wustl.edu 37 10 74660192 74660192 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_152635.1 +1 provisional p.C165Y 1.000 119 0% 143 33.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00181,superfamily_EGF/Laminin USP54 159195 genome.wustl.edu 37 10 75264669 75264669 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_152586.3 -1 provisional p.R1417H 1.000 233 0% 261 15.7% 25 20% benign(0.015) deleterious(0) neutral(0.445) NULL DLG5 9231 genome.wustl.edu 37 10 79588731 79588731 + Missense_Mutation SNP C C G novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_004747.3 -1 reviewed p.S733T 1.000 33 0% 32 37.5% 15 0% possibly_damaging(0.484) tolerated(0.57) neutral(0.167) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like PTEN 5728 genome.wustl.edu 37 10 89712017 89712017 + Splice_Site SNP G G T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 ENST00000371953 +1 known e6+1 1.000 200 0% 98 59.2% 2 100% - - - - SLC25A28 81894 genome.wustl.edu 37 10 101372304 101372304 + Silent SNP C C A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_031212.3 -1 validated p.A191 0.000 143 0% 197 30.5% 30 33.3% - - - superfamily_Mitochondrial carrier,HMMPfam_Mito_carr ADRA2A 150 genome.wustl.edu 37 10 112838979 112838979 + Missense_Mutation SNP T T C novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_000681.3 +1 reviewed p.Y409H 1.000 147 0% 236 33.9% 7 14.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TACC2 10579 genome.wustl.edu 37 10 123843762 123843762 + Missense_Mutation SNP C C A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_206862.2 +1 reviewed p.P583T 0.001 95 0% 116 31% 3 33.3% benign(0.002) tolerated(1) - NULL PAOX 196743 genome.wustl.edu 37 10 135193547 135193547 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_152911.2 +1 validated p.R76W 0.650 17 0% 61 29.5% 1 100% possibly_damaging(0.687) deleterious(0.02) deleterious(0.629) HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain KCNQ1 3784 genome.wustl.edu 37 11 2610068 2610068 + Missense_Mutation SNP C C A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_000218.2 +1 reviewed p.D459E 0.023 64 0% 80 37.5% 4 0% benign(0.01) tolerated(0.43) neutral(0.014) HMMPfam_KCNQ_channel OR51S1 119692 genome.wustl.edu 37 11 4870410 4870410 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001004758.1 -1 provisional p.P10L 0.001 396 0.3% 320 17.2% 0 - benign(0) tolerated(0.71) neutral(0.002) NULL RRAS2 22800 genome.wustl.edu 37 11 14303235 14303235 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_012250.5 -1 reviewed p.R147Q 1.000 734 0.1% 640 32.5% 56 46.4% possibly_damaging(0.761) deleterious(0.04) deleterious(0.631) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases PDE3B 5140 genome.wustl.edu 37 11 14666368 14666368 + Silent SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_000922.3 +1 validated p.S249 1.000 23 0% 29 62.1% 0 - - - - NULL NAT10 55226 genome.wustl.edu 37 11 34129797 34129797 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_024662.2 +1 validated p.R9* 1.000 238 0% 261 36.4% 10 30% - - - NULL MYBPC3 4607 genome.wustl.edu 37 11 47372096 47372096 + Silent SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_000256.3 -1 reviewed p.P121 0.000 26 0% 48 31.2% 0 - - - - NULL NUP160 23279 genome.wustl.edu 37 11 47861981 47861982 + Frame_Shift_Ins INS - - T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_015231.1 -1 validated p.N158fs 0.992:0.993 - - - - - - - - - NULL VWCE 220001 genome.wustl.edu 37 11 61053804 61053804 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_152718.2 -1 validated p.D175N 0.956 27 0% 25 40% 0 - possibly_damaging(0.722) tolerated(0.1) deleterious(0.548) HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,superfamily_EGF/Laminin UBXN1 51035 genome.wustl.edu 37 11 62445826 62445826 + Missense_Mutation SNP T T C novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_015853.3 -1 provisional p.Q92R 0.975 322 0% 305 36.1% 239 45.6% benign(0) tolerated(0.21) neutral(0.044) NULL PPP2R5B 5526 genome.wustl.edu 37 11 64695604 64695604 + Missense_Mutation SNP T T C novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_006244.3 +1 reviewed p.Y189H 1.000 446 0% 517 37.5% 17 23.5% benign(0.014) deleterious(0.05) neutral(0.346) HMMPfam_B56 ACTN3 89 genome.wustl.edu 37 11 66319007 66319007 + Silent SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001104.1 +1 reviewed p.L91 1.000 156 0% 174 36.8% 0 - - - - HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain PITPNM1 9600 genome.wustl.edu 37 11 67267697 67267697 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_004910.2 -1 validated p.R279Q 0.163 17 0% 26 42.3% 50 50% probably_damaging(0.957) tolerated(0.61) neutral(0.405) NULL INPPL1 3636 genome.wustl.edu 37 11 71945645 71945645 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001567.3 +1 reviewed p.R801C 0.535 83 0% 106 27.4% 120 36.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MYO7A 4647 genome.wustl.edu 37 11 76893630 76893630 + Silent SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_000260.3 +1 reviewed p.L1090 1.000 49 0% 59 30.5% 0 - - - - HMMSmart_SM00139 KIAA1731 85459 genome.wustl.edu 37 11 93430823 93430823 + Silent SNP A A G novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_033395.1 +1 validated p.P915 0.110 251 0% 215 32.1% 1 0% - - - NULL TRPC6 7225 genome.wustl.edu 37 11 101347072 101347072 + Silent SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_004621.5 -1 reviewed p.T568 0.932 317 0% 264 26.9% 1 0% - - - HMMPfam_Ion_trans CASP5 838 genome.wustl.edu 37 11 104877843 104877843 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001136112.1 -1 reviewed p.L147F 0.000 533 0% 436 38.8% 0 - probably_damaging(0.997) tolerated(0.35) deleterious(0.487) HMMPfam_CARD,HMMSmart_SM00114,superfamily_DEATH domain SORL1 6653 genome.wustl.edu 37 11 121489588 121489588 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_003105.4 +1 reviewed p.Q1904* 1.000 440 0% 407 34.6% 21 9.5% - - - HMMSmart_SM00060,superfamily_Fibronectin type III IGSF9B 22997 genome.wustl.edu 37 11 133790179 133790179 + Silent SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_014987.1 -1 validated p.L1147 1.000 18 0% 33 24.2% 0 - - - - NULL WNK1 65125 genome.wustl.edu 37 12 992632 992632 + Silent SNP A A G novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_018979.3 +1 reviewed p.K1187 0.990 472 0% 418 33.3% 14 21.4% - - - NULL KCNA1 3736 genome.wustl.edu 37 12 5021678 5021678 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_000217.2 +1 reviewed p.M378I 1.000 95 1.1% 111 36% 0 - probably_damaging(0.97) deleterious(0.03) deleterious(0.777) HMMPfam_Ion_trans,superfamily_SSF81324 AICDA 57379 genome.wustl.edu 37 12 8757858 8757858 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_020661.2 -1 reviewed p.R127Q 0.984 22 0% 42 50% 0 - probably_damaging(1) tolerated(0.19) deleterious(0.549) HMMPfam_APOBEC_C,superfamily_Cytidine deaminase-like WBP11 51729 genome.wustl.edu 37 12 14949872 14949872 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_016312.2 -1 reviewed p.R86C 1.000 560 0% 441 35.4% 23 39.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Wbp11 KRAS 3845 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 byCluster TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_033360.2 -1 reviewed p.G12V 1.000 451 0% 514 56.2% 16 62.5% benign(0.048) deleterious(0) neutral(0.448) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases DDX11 1663 genome.wustl.edu 37 12 31242866 31242866 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 ENST00000404673 +1 known p.R280K 0.488 385 0% 429 14.7% 7 28.5% unknown(0) - - HMMSmart_DEXDc2 ARID2 196528 genome.wustl.edu 37 12 46230604 46230604 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_152641.2 +1 validated p.R285W 1.000 598 0.2% 482 32.4% 6 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL COL2A1 1280 genome.wustl.edu 37 12 48372131 48372131 + Silent SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001844.4 -1 reviewed p.I982 0.998 56 0% 75 34.7% 1 0% - - - HMMPfam_Collagen MYO1A 4640 genome.wustl.edu 37 12 57441828 57441828 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_005379.2 -1 reviewed p.P59S 0.981 273 0% 263 14.1% 0 - benign(0.002) tolerated(0.29) neutral(0.029) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 LRP1 4035 genome.wustl.edu 37 12 57554871 57554871 + Silent SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_002332.2 +1 reviewed p.T725 1.000 56 0% 79 32.9% 11 9% - - - HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain DPY19L2 283417 genome.wustl.edu 37 12 64057598 64057598 + Silent SNP A A G novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_173812.4 -1 validated p.N130 1.000 266 0% 201 34.3% 0 - - - - HMMPfam_DUF2211 C12orf26 84190 genome.wustl.edu 37 12 82752426 82752426 + Missense_Mutation SNP A A G novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_032230.2 +1 validated p.R28G 0.004 73 0% 86 10.5% 5 0% possibly_damaging(0.83) tolerated(0.12) deleterious(0.576) NULL NUP37 79023 genome.wustl.edu 37 12 102468146 102468146 + Frame_Shift_Del DEL C C - novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_024057.2 -1 provisional p.V323fs 1.000 - - - - - - - - - NULL C12orf51 283450 genome.wustl.edu 37 12 112631398 112631398 + Missense_Mutation SNP C C A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001109662.2 -1 validated p.D2522Y 1.000 191 0% 232 15.9% 6 0% possibly_damaging(0.926) - - NULL VSIG10 54621 genome.wustl.edu 37 12 118520006 118520006 + Missense_Mutation SNP C C A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_019086.5 -1 validated p.G197V 1.000 270 0% 328 38.1% 17 41.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin PSMD9 5715 genome.wustl.edu 37 12 122340977 122340977 + Silent SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_002813.4 +1 reviewed p.L173 1.000 293 0% 424 33.5% 102 41.1% - - - HMMSmart_SM00228,superfamily_PDZ domain-like DNAH10 196385 genome.wustl.edu 37 12 124337795 124337795 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_207437.3 +1 validated p.E1994K 1.000 187 0% 216 42.1% 1 100% possibly_damaging(0.924) deleterious(0.01) deleterious(0.778) superfamily_P-loop containing nucleoside triphosphate hydrolases PIWIL1 9271 genome.wustl.edu 37 12 130842054 130842054 + Missense_Mutation SNP T T C novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_004764.3 +1 reviewed p.Y541H 0.988 499 0% 375 34.1% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL ZDHHC20 253832 genome.wustl.edu 37 13 21965918 21965918 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_153251.2 -1 provisional p.V224I 1.000 266 0% 204 33.8% 23 43.4% benign(0) tolerated(0.28) neutral(0.032) NULL EFHA1 221154 genome.wustl.edu 37 13 22140935 22140935 + Splice_Site SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_152726.2 -1 validated e2+1 1.000 172 0% 137 30.7% 0 - - - - - FAM123A 219287 genome.wustl.edu 37 13 25744274 25744274 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_152704.2 -1 validated p.R495Q 0.874 34 0% 31 16.1% 0 - benign(0.152) tolerated(0.39) neutral(0.029) HMMPfam_WTX MTUS2 23281 genome.wustl.edu 37 13 29933576 29933576 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001033602.2 +1 validated p.A1038V 0.081 14 0% 21 28.6% 0 - benign(0) tolerated(0.5) neutral(0.010) NULL N4BP2L2 10443 genome.wustl.edu 37 13 33016939 33016939 + Missense_Mutation SNP G G T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_033111.3 -1 validated p.L579M 0.002 81 0% 34 35.3% 11 27.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DGKH 160851 genome.wustl.edu 37 13 42733430 42733430 + Silent SNP T T C novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_178009.2 +1 reviewed p.C217 1.000 90 0% 78 12.8% 0 - - - - HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_Cysteine-rich domain AKAP11 11215 genome.wustl.edu 37 13 42877795 42877795 + Missense_Mutation SNP C C A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_016248.2 +1 reviewed p.P1638H 1.000 135 0% 119 30.3% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CDADC1 81602 genome.wustl.edu 37 13 49848455 49848455 + Silent SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_030911.2 +1 validated p.V343 1.000 489 0% 381 36% 5 20% - - - HMMPfam_dCMP_cyt_deam_1,superfamily_Cytidine deaminase-like GPC6 10082 genome.wustl.edu 37 13 95034748 95034748 + Silent SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_005708.3 +1 reviewed p.S411 0.990 236 0% 245 31.4% 4 0% - - - HMMPfam_Glypican RAB20 55647 genome.wustl.edu 37 13 111176157 111176157 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_017817.1 -1 provisional p.G187D 1.000 195 0% 275 34.2% 117 47.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases CHD8 57680 genome.wustl.edu 37 14 21878149 21878149 + Splice_Site SNP T T C novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_020920.3 -1 reviewed e10-2 1.000 279 0% 279 33.7% 1 100% - - - - SLC7A8 23428 genome.wustl.edu 37 14 23608685 23608685 + Missense_Mutation SNP T T C novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_012244.2 -1 validated p.Y287C 1.000 217 0% 297 35% 29 55.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AA_permease HOMEZ 57594 genome.wustl.edu 37 14 23745113 23745113 + Missense_Mutation SNP T T C novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_020834.2 -1 validated p.T442A 0.999 446 0.2% 592 31.8% 41 39% benign(0.021) tolerated(0.45) neutral(0.013) NULL MYH6 4624 genome.wustl.edu 37 14 23865524 23865524 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_002471.3 -1 validated p.R800C 1.000 131 0% 178 12.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases LRRC16B 90668 genome.wustl.edu 37 14 24523619 24523619 + Silent SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_138360.3 +1 validated p.T87 0.363 48 0% 68 38.2% 0 - - - - NULL RIPK3 11035 genome.wustl.edu 37 14 24807178 24807178 + Silent SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_006871.3 -1 reviewed p.L245 0.089 50 0% 66 34.8% 26 46.1% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase HECTD1 25831 genome.wustl.edu 37 14 31592198 31592198 + Missense_Mutation SNP C C A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_015382.2 -1 validated p.E1679D 0.992 425 0% 461 10.8% 48 16.6% benign(0.388) tolerated(0.05) deleterious(0.469) NULL GPHB5 122876 genome.wustl.edu 37 14 63784385 63784385 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_145171.2 -1 validated p.A60V 1.000 81 0% 68 11.8% 0 - - - - NULL FUT8 2530 genome.wustl.edu 37 14 66208947 66208947 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_178154.1 +1 reviewed p.R516Q 1.000 369 0% 308 34.7% 4 0% benign(0.016) tolerated(0.2) neutral(0.050) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain VSX2 338917 genome.wustl.edu 37 14 74727394 74727394 + Silent SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_182894.2 +1 reviewed p.D286 1.000 17 0% 28 32.1% 0 - - - - NULL MLH3 27030 genome.wustl.edu 37 14 75516229 75516229 + Missense_Mutation SNP T T C novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001040108.1 -1 reviewed p.R44G 1.000 137 0% 137 38% 2 50% unknown(0) deleterious(0.04) - HMMPfam_HATPase_c,superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase CCDC88C 440193 genome.wustl.edu 37 14 91779767 91779767 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001080414.2 -1 validated p.A798V 0.007 15 0% 32 50% 9 33.3% benign(0) tolerated(0.35) neutral(0.021) NULL ASB2 51676 genome.wustl.edu 37 14 94405723 94405723 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_016150.3 -1 reviewed p.R402C 1.000 11 0% 25 36% 16 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat DLK1 8788 genome.wustl.edu 37 14 101201179 101201179 + Silent SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_003836.5 +1 reviewed p.P366 0.016 71 0% 76 21.1% 0 - - - - NULL IGHD 3495 genome.wustl.edu 37 14 106307545 106307545 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 ENST00000390556 -1 known p.P165S 0.179 50 0% 60 35% 167 0% possibly_damaging(0.945) tolerated(0.11) deleterious(0.661) superfamily_Immunoglobulin RYR3 6263 genome.wustl.edu 37 15 33952410 33952410 + Missense_Mutation SNP C C A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001036.3 +1 validated p.L1470M 0.995 155 0% 172 33.7% 0 - probably_damaging(0.991) - - NULL RYR3 6263 genome.wustl.edu 37 15 34018618 34018618 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001036.3 +1 validated p.R2315H 1.000 153 0% 150 13.3% 0 - probably_damaging(1) - - NULL MAPKBP1 23005 genome.wustl.edu 37 15 42104788 42104788 + Nonsense_Mutation SNP C C G novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001128608.1 +1 validated p.Y191* 1.000 108 0% 149 28.2% 2 0% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 SQRDL 58472 genome.wustl.edu 37 15 45968397 45968397 + Silent SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_021199.2 +1 provisional p.Q251 0.061 156 0% 135 37.8% 75 48% - - - HMMPfam_Pyr_redox_2,superfamily_SSF51905 HDC 3067 genome.wustl.edu 37 15 50534834 50534834 + Missense_Mutation SNP T T A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_002112.2 -1 validated p.N538Y 0.039 199 0% 245 32.7% 2 100% benign(0) deleterious(0.04) neutral(0.349) NULL MYO5A 4644 genome.wustl.edu 37 15 52632509 52632509 + Missense_Mutation SNP T T C novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_000259.3 -1 reviewed p.K1375E 1.000 103 0% 136 13.2% 2 50% possibly_damaging(0.892) deleterious(0.04) deleterious(0.700) NULL EDC3 80153 genome.wustl.edu 37 15 74925119 74925119 + Missense_Mutation SNP T T C novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001142443.1 -1 validated p.D454G 1.000 69 0% 71 14.1% 24 12.5% benign(0.08) tolerated(0.37) neutral(0.025) superfamily_YjeF N-terminal domain-like C15orf39 56905 genome.wustl.edu 37 15 75499513 75499513 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_015492.4 +1 validated p.T375I 0.025 58 0% 102 33.3% 38 31.5% unknown(0) deleterious(0) - NULL PSTPIP1 9051 genome.wustl.edu 37 15 77322884 77322884 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_003978.3 +1 reviewed p.R202W 0.338 41 0% 66 51.5% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL EFTUD1 79631 genome.wustl.edu 37 15 82450100 82450100 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_024580.5 -1 validated p.A662T 1.000 384 0% 369 12.7% 22 13.6% probably_damaging(1) tolerated(0.14) deleterious(0.750) superfamily_EF-G C-terminal domain-like SH3GL3 6457 genome.wustl.edu 37 15 84287234 84287235 + RNA INS - - TTG rs10700817 TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NR_026799.1 +1 validated NULL 0.000:0.679 - - - - - - - - - - MRPL46 26589 genome.wustl.edu 37 15 89008864 89008864 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_022163.3 -1 reviewed p.M123I 0.232 352 0% 297 28.3% 17 35.2% benign(0.002) tolerated(0.46) neutral(0.012) NULL VPS33B 26276 genome.wustl.edu 37 15 91543727 91543727 + Missense_Mutation SNP A A G novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_018668.3 -1 reviewed p.I525T 0.997 153 0% 173 36.4% 21 14.2% benign(0.043) deleterious(0.01) neutral(0.408) HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins WDR90 197335 genome.wustl.edu 37 16 703523 703523 + Splice_Site SNP A A G novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_145294.4 +1 provisional e12-2 0.999 83 0% 106 33% 3 66.6% - - - - RHBDL1 9028 genome.wustl.edu 37 16 727946 727946 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_003961.1 +1 provisional p.G404D 1.000 17 0% 37 21.6% 3 0% benign(0.389) tolerated(0.22) neutral(0.167) NULL CCDC154 645811 genome.wustl.edu 37 16 1493960 1493960 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001143980.1 -1 provisional p.V21I 0.000 31 0% 46 21.7% 0 - benign(0) tolerated(0.67) neutral(0.003) NULL IFT140 9742 genome.wustl.edu 37 16 1652418 1652418 + Splice_Site SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 ENST00000458658 -1 known e2+1 0.101 149 0% 229 35.8% 31 64.5% possibly_damaging(0.939) tolerated(0.07) deleterious(0.704) - HS3ST6 64711 genome.wustl.edu 37 16 1961835 1961835 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001009606.2 -1 validated p.R231H 0.998 52 0% 60 30% 0 - possibly_damaging(0.594) deleterious(0) deleterious(0.649) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases TRAP1 10131 genome.wustl.edu 37 16 3729730 3729730 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_016292.2 -1 validated p.S178L 1.000 71 0% 79 29.1% 145 35.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HATPase_c,HMMSmart_HATPase_c,superfamily_ATP_bd_ATPase SMG1 23049 genome.wustl.edu 37 16 18844443 18844443 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_015092.4 -1 reviewed p.R2871* 0.994 197 0% 201 16.9% 5 40% - - - NULL RNF40 9810 genome.wustl.edu 37 16 30780216 30780218 + In_Frame_Del DEL AAG AAG - novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_014771.2 +1 reviewed p.K720in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL FAM192A 80011 genome.wustl.edu 37 16 57201101 57201101 + Missense_Mutation SNP T T C novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_024946.2 -1 validated p.K129R 1.000 469 0% 378 34.7% 33 45.4% possibly_damaging(0.541) tolerated(0.18) neutral(0.239) NULL DOK4 55715 genome.wustl.edu 37 16 57507340 57507341 + Frame_Shift_Ins INS - - T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_018110.3 -1 validated p.P311fs 1.000:1.000 - - - - - - - - - NULL PLEKHG4 25894 genome.wustl.edu 37 16 67316109 67316109 + Silent SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001129727.1 +1 reviewed p.V370 0.000 32 0% 47 36.2% 8 37.5% - - - NULL CTCF 10664 genome.wustl.edu 37 16 67663409 67663409 + Frame_Shift_Del DEL T T - novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_006565.2 +1 reviewed p.S604fs 0.996 - - - - - - - - - NULL RLTPR 146206 genome.wustl.edu 37 16 67688390 67688390 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001013838.1 +1 provisional p.R1126Q 0.378 26 0% 68 38.2% 0 - possibly_damaging(0.939) tolerated(0.08) deleterious(0.684) NULL SLC7A6 9057 genome.wustl.edu 37 16 68308966 68308966 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001076785.1 +1 validated p.A113T 1.000 245 0% 243 33.7% 2 50% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_AA_permease TMCO7 79613 genome.wustl.edu 37 16 68943227 68943227 + Silent SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_024562.1 +1 validated p.E638 0.976 183 0% 172 11% 9 22.2% - - - superfamily_ARM repeat,HMMPfam_DUF2435 PKD1L3 342372 genome.wustl.edu 37 16 72020277 72020277 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 ENST00000335106 -1 known p.S226N 0.077 298 0% 341 12% 0 - - - - NULL VAT1L 57687 genome.wustl.edu 37 16 77859281 77859281 + Missense_Mutation SNP G G T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_020927.1 +1 provisional p.A168S 1.000 242 0% 207 36.7% 0 - probably_damaging(0.999) tolerated(0.05) deleterious(0.836) superfamily_GroES_like,superfamily_NAD(P)-bd PRPF8 10594 genome.wustl.edu 37 17 1562031 1562031 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_006445.3 -1 reviewed p.S1722N 1.000 188 0% 219 30.6% 176 42.6% benign(0.022) deleterious(0) neutral(0.446) NULL TRPV1 7442 genome.wustl.edu 37 17 3493227 3493227 + Silent SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_018727.5 -1 reviewed p.V306 1.000 45 0% 93 14% 1 0% - - - superfamily_Ankyrin repeat ZZEF1 23140 genome.wustl.edu 37 17 3992096 3992096 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_015113.3 -1 validated p.A706V 0.000 160 0% 245 34.3% 7 42.8% benign(0.028) tolerated(0.12) neutral(0.262) NULL FLCN 201163 genome.wustl.edu 37 17 17131282 17131282 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_144997.5 -1 reviewed p.R57Q 0.998 68 0% 87 40.2% 23 52.1% probably_damaging(0.995) tolerated(0.54) neutral(0.465) NULL LGALS9B 284194 genome.wustl.edu 37 17 20361677 20361677 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001042685.1 -1 validated p.T51M 0.011 403 0.2% 416 29.6% 0 - possibly_damaging(0.792) deleterious(0.01) deleterious(0.703) HMMPfam_Gal-bind_lectin,HMMSmart_GLECT,superfamily_ConA_like_lec_gl ATAD5 79915 genome.wustl.edu 37 17 29167746 29167746 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_024857.3 +1 provisional p.R730C 1.000 175 0% 152 43.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MYO1D 4642 genome.wustl.edu 37 17 31107762 31107762 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_015194.1 -1 provisional p.V46I 0.922 186 0% 180 36.1% 14 57.1% possibly_damaging(0.918) tolerated(0.11) deleterious(0.640) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases AP2B1 163 genome.wustl.edu 37 17 33977576 33977576 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001030006.1 +1 reviewed p.R522W 1.000 375 0.3% 332 34% 85 44.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Adaptin_N,superfamily_ARM repeat KRT23 25984 genome.wustl.edu 37 17 39080731 39080731 + Silent SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_015515.3 -1 reviewed p.S389 0.000 417 0% 324 25.6% 197 49.2% - - - NULL KRT38 8687 genome.wustl.edu 37 17 39593770 39593770 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_006771.3 -1 reviewed p.T422M 0.703 90 0% 151 35.8% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL MKS1 54903 genome.wustl.edu 37 17 56296056 56296056 + Missense_Mutation SNP G G T rs11653070 byCluster;by2Hit2Allele;byHapMap TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_017777.3 -1 reviewed p.L39I 1.000 233 0% 236 25% 16 25% possibly_damaging(0.744) tolerated(0.3) neutral(0.302) NULL TSEN54 283989 genome.wustl.edu 37 17 73520522 73520522 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 ENST00000434205 +1 known p.A154T 0.387 98 0% 132 28.8% 52 46.1% unknown(0) deleterious(0) - NULL ANKRD30B 374860 genome.wustl.edu 37 18 14764024 14764024 + Missense_Mutation SNP A A G novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001145029.1 +1 validated p.E387G 0.000 97 0% 86 41.9% 0 - possibly_damaging(0.806) tolerated(0.42) neutral(0.318) NULL TPGS2 25941 genome.wustl.edu 37 18 34408667 34408667 + Silent SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_015476.2 -1 provisional p.L22 0.928 88 0% 128 34.4% 119 40.3% - - - NULL MYO5B 4645 genome.wustl.edu 37 18 47480807 47480807 + Splice_Site SNP T T C novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001080467.2 -1 reviewed e13-2 1.000 196 0% 212 33.5% 1 100% - - - - DCC 1630 genome.wustl.edu 37 18 50848461 50848461 + Missense_Mutation SNP A A G novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_005215.3 +1 reviewed p.T700A 1.000 329 0.3% 281 37.4% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III WDR7 23335 genome.wustl.edu 37 18 54339866 54339866 + Silent SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_015285.2 +1 reviewed p.D40 1.000 214 0% 168 30.4% 1 100% - - - HMMSmart_SM00320,superfamily_Prolyl oligopeptidase N-terminal domain,PatternScan_WD_REPEATS_1,HMMPfam_WD40 ZNF236 7776 genome.wustl.edu 37 18 74622022 74622022 + Splice_Site SNP A A T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_007345.3 +1 validated e15-2 1.000 229 0.4% 177 39.5% 2 100% - - - - PALM 5064 genome.wustl.edu 37 19 727077 727077 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_002579.2 +1 reviewed p.Q43* 1.000 13 0% 48 43.8% 1 0% - - - NULL ABCA7 10347 genome.wustl.edu 37 19 1046330 1046330 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_019112.3 +1 reviewed p.R516H 0.084 19 0% 63 36.5% 16 50% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL DOT1L 84444 genome.wustl.edu 37 19 2216525 2216525 + Silent SNP C C T rs149636706 by1000genomes TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 ENST00000440640 +1 known p.A510V 0.000 11 0% 28 46.4% 14 57.1% - - - NULL LMNB2 84823 genome.wustl.edu 37 19 2431802 2431802 + Silent SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_032737.2 -1 reviewed p.V543 0.704 40 0% 76 36.8% 47 23.4% - - - HMMPfam_IF_tail,superfamily_SSF74853 HMG20B 10362 genome.wustl.edu 37 19 3575641 3575643 + In_Frame_Del DEL AGA AGA - novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_006339.2 +1 validated p.K154in_frame_del 1.000:0.999:1.000 - - - - - - - - - NULL ANKRD24 170961 genome.wustl.edu 37 19 4208789 4208789 + Silent SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_133475.1 +1 provisional p.A287 0.727 84 0% 113 39.8% 1 0% - - - NULL DPP9 91039 genome.wustl.edu 37 19 4685736 4685736 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_139159.4 -1 reviewed p.R645C 0.361 77 0% 128 31.2% 22 45.4% probably_damaging(0.974) deleterious(0.05) deleterious(0.761) superfamily_SSF53474 PTPRS 5802 genome.wustl.edu 37 19 5210528 5210528 + Silent SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_002850.3 -1 reviewed p.Y1813 1.000 206 0% 259 11.6% 38 2.6% - - - HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II SH2D3A 10045 genome.wustl.edu 37 19 6754224 6754224 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 ENST00000437152 -1 known p.R315Q 0.000 23 0% 32 34.4% 1 0% unknown(0) - - NULL OR2Z1 284383 genome.wustl.edu 37 19 8842333 8842333 + Nonstop_Mutation SNP T T C novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001004699.1 +1 provisional p.*315R 0.003 88 0% 100 38% 0 - - - - NULL ZNF846 162993 genome.wustl.edu 37 19 9868543 9868543 + Missense_Mutation SNP T T G novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001077624.1 -1 validated p.N404H 0.001 337 0% 304 32.9% 1 0% possibly_damaging(0.865) deleterious(0.03) deleterious(0.700) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers TYK2 7297 genome.wustl.edu 37 19 10464907 10464907 + Missense_Mutation SNP G G T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_003331.4 -1 reviewed p.H907N 1.000 39 0% 94 31.9% 61 36% probably_damaging(0.997) tolerated(0.93) neutral(0.466) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP SMARCA4 6597 genome.wustl.edu 37 19 11123672 11123672 + Silent SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001128849.1 +1 reviewed p.N774 0.882 113 0% 175 37.1% 142 38% - - - HMMPfam_SNF2_N,HMMSmart_DEXDc,superfamily_SSF52540 PALM3 342979 genome.wustl.edu 37 19 14165732 14165732 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001145028.1 -1 validated p.T236M 0.956 67 0% 126 15.9% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DDX39A 10212 genome.wustl.edu 37 19 14521052 14521052 + Silent SNP A A G novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_005804.2 -1 reviewed p.P236 0.196 89 0% 117 46.2% 236 42.3% - - - HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540 CALR3 125972 genome.wustl.edu 37 19 16593374 16593374 + Missense_Mutation SNP C C A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_145046.3 -1 validated p.G269C 0.893 232 0% 267 32.2% 0 - probably_damaging(0.958) deleterious(0.01) deleterious(0.807) HMMPfam_Calreticulin,superfamily_ConA_like_lec_gl,superfamily_Calret_calnex_P CHERP 10523 genome.wustl.edu 37 19 16641586 16641586 + Silent SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_006387.5 -1 validated p.I260 0.358 39 0% 71 29.6% 35 34.2% - - - HMMPfam_DUF618,superfamily_ENTH/VHS domain URI1 8725 genome.wustl.edu 37 19 30500141 30500146 + In_Frame_Del DEL GATGAC GATGAC - novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 GATGAC GATGAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_003796.2 +1 reviewed p.DD309in_frame_del 0.086:0.089:0.000:0.023:0.013:0.000 - - - - - - - - - NULL ZNF540 163255 genome.wustl.edu 37 19 38103610 38103610 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_152606.3 +1 validated p.R477* 0.000 291 0% 233 17.2% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers EIF3K 27335 genome.wustl.edu 37 19 39116732 39116732 + Missense_Mutation SNP A A G novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_013234.2 +1 validated p.Q115R 1.000 183 0% 237 31.6% 358 38.8% benign(0.006) tolerated(0.44) neutral(0.013) HMMPfam_SAC3_GANP,superfamily_ARM repeat MAP3K10 4294 genome.wustl.edu 37 19 40711893 40711893 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_002446.3 +1 reviewed p.R422W 1.000 29 0% 38 34.2% 11 36.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NUMBL 9253 genome.wustl.edu 37 19 41173889 41173889 + Silent SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_004756.3 -1 validated p.Q438 1.000 4 0.000 35 0.771 12 58.3% - - - NULL DHX34 9704 genome.wustl.edu 37 19 47883072 47883072 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_014681.5 +1 reviewed p.R938* 0.046 17 0% 38 31.6% 13 23% - - - NULL LIG1 3978 genome.wustl.edu 37 19 48624460 48624460 + Silent SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_000234.1 -1 reviewed p.D784 0.985 43 0% 70 40% 30 36.6% - - - HMMPfam_DNA_ligase_A_C PRR12 57479 genome.wustl.edu 37 19 50119029 50119029 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_020719.1 +1 validated p.V1684I 0.000 46 0% 92 26.1% 37 27% benign(0.359) tolerated(0.14) neutral(0.363) NULL MED25 81857 genome.wustl.edu 37 19 50332235 50332235 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_030973.3 +1 reviewed p.T138M 1.000 70 0% 126 39.7% 134 44.7% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL SIGLEC14 100049587 genome.wustl.edu 37 19 52147278 52147278 + Silent SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001098612.1 -1 validated p.L256 0.005 49 0% 51 33.3% 8 0% - - - superfamily_SSF48726 ZNF350 59348 genome.wustl.edu 37 19 52468942 52468942 + Missense_Mutation SNP G G C novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_021632.3 -1 validated p.T255S 0.011 415 0% 372 40.6% 4 75% benign(0.01) tolerated(0.12) neutral(0.261) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers KIR3DL1 3811 genome.wustl.edu 37 19 55329941 55329941 + Missense_Mutation SNP A A C novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_013289.2 +1 reviewed p.N81T 0.000 226 0.4% 251 11.6% 0 - benign(0.002) tolerated(0.61) neutral(0.004) HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin RDH13 112724 genome.wustl.edu 37 19 55556639 55556639 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_138412.3 -1 reviewed p.A196T 1.000 13 0% 18 33.3% 19 31.5% probably_damaging(0.981) deleterious(0) deleterious(0.870) superfamily_NAD(P)-binding Rossmann-fold domains NLRP4 147945 genome.wustl.edu 37 19 56369555 56369555 + Missense_Mutation SNP A A G novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_134444.4 +1 validated p.R266G 0.467 103 0% 130 31.5% 0 - benign(0.053) deleterious(0.01) neutral(0.409) HMMPfam_NACHT ZNF135 7694 genome.wustl.edu 37 19 58579278 58579278 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_003436.3 +1 validated p.R476W 0.940 196 0.5% 210 34.8% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers IDH3B 3420 genome.wustl.edu 37 20 2644817 2644817 + Silent SNP T T C novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_006899.2 -1 reviewed p.G6 0.117 20 0% 37 37.8% 30 56.6% - - - NULL MYBL2 4605 genome.wustl.edu 37 20 42331292 42331292 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_002466.2 +1 reviewed p.R372C 1.000 50 0% 80 11.3% 55 20% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) NULL RIMS4 140730 genome.wustl.edu 37 20 43386349 43386349 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_182970.2 -1 validated p.R138Q 0.998 85 0% 130 32.3% 6 66.6% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB HMGB1P1 10357 genome.wustl.edu 37 20 56063511 56063511 + Missense_Mutation SNP C C A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 ENST00000452924 -1 known p.E191D 0.997 410 0% 354 11.3% 3 0% - - - NULL C20orf20 55257 genome.wustl.edu 37 20 61430980 61430980 + Missense_Mutation SNP G G T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_018270.4 +1 validated p.K200N 1.000 62 0% 66 12.1% 42 11.9% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ARFGAP1 55738 genome.wustl.edu 37 20 61907460 61907460 + Silent SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_175609.1 +1 reviewed p.G26 0.307 278 0% 327 31.8% 31 35.4% - - - HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_Pyk2-associated protein beta ARF-GAP domain USP16 10600 genome.wustl.edu 37 21 30409702 30409702 + Missense_Mutation SNP C C A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001032410.1 +1 reviewed p.P185H 0.000 361 0% 320 35.9% 7 14.2% benign(0.33) tolerated(0.57) neutral(0.110) NULL KCNJ6 3763 genome.wustl.edu 37 21 39086713 39086713 + Missense_Mutation SNP C C A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_002240.2 -1 reviewed p.E249D 0.999 221 0% 187 15% 1 0% probably_damaging(0.974) deleterious(0) deleterious(0.861) HMMPfam_IRK,superfamily_Ig_E-set ADARB1 104 genome.wustl.edu 37 21 46603320 46603320 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_015833.3 +1 validated p.R431* 0.999 246 0% 208 31.2% 4 0% - - - HMMPfam_A_deamin,HMMSmart_SM00552,superfamily_Cytokine ENSG00000093100 0 genome.wustl.edu 37 22 18382183 18382183 + Missense_Mutation SNP G G T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 ENST00000432220 -1 known p.L327I 0.000 375 0% 300 39% 0 - - - - NULL USP18 11274 genome.wustl.edu 37 22 18652700 18652700 + Silent SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_017414.3 +1 validated p.G239 0.042 212 0% 237 34.2% 19 42.1% - - - HMMPfam_UCH,superfamily_Cysteine proteinases AIFM3 150209 genome.wustl.edu 37 22 21327646 21327646 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_144704.2 +1 validated p.E28K 0.998 40 0% 60 35% 2 0% benign(0.045) deleterious(0.03) neutral(0.367) NULL LOC100287891 100287891 genome.wustl.edu 37 22 23241810 23241810 + Missense_Mutation SNP C C T rs192890899 by1000genomes TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 XM_002343769.1 -1 model p.A101T 0.023 614 0.7% 722 36.8% 117 0.8% - - - NULL PATZ1 23598 genome.wustl.edu 37 22 31741246 31741246 + Missense_Mutation SNP C C A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_014323.2 -1 reviewed p.G115W 0.996 56 1.8% 72 30.6% 43 44.1% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB DEPDC5 9681 genome.wustl.edu 37 22 32302245 32302245 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_014662.2 +1 validated p.R1494Q 1.000 44 0% 39 41% 16 43.7% probably_damaging(0.997) tolerated(0.27) deleterious(0.500) NULL SYN3 8224 genome.wustl.edu 37 22 32937624 32937624 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_003490.3 -1 reviewed p.E284K 1.000 394 0% 527 35.5% 0 - unknown(0) deleterious(0) - HMMPfam_Synapsin_C,superfamily_Glutathione synthetase ATP-binding domain-like MCM5 4174 genome.wustl.edu 37 22 35796455 35796455 + Silent SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_006739.3 +1 reviewed p.G8 0.960 13 0% 36 36.1% 29 34.4% - - - NULL KCNJ4 3761 genome.wustl.edu 37 22 38823649 38823649 + Silent SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_004981.1 -1 reviewed p.I163 1.000 19 0% 34 29.4% 0 - - - - HMMPfam_IRK,superfamily_Ig_E-set,superfamily_SSF81324 PRR5-ARHGAP8 553158 genome.wustl.edu 37 22 45243866 45243866 + Frame_Shift_Del DEL G G - novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_181334.4 +1 reviewed p.G265fs 1.000 - - - - - - - - - HMMPfam_RhoGAP,HMMSmart_RhoGAP,superfamily_Rho_GAP KIAA0930 23313 genome.wustl.edu 37 22 45601566 45601566 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_015264.1 -1 validated p.A125V 1.000 102 0% 128 35.2% 109 42.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF2045 FAM118A 55007 genome.wustl.edu 37 22 45719234 45719234 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001104595.1 +1 validated p.E76* 0.979 40 2.5% 78 38.5% 13 15.3% - - - NULL ZBED4 9889 genome.wustl.edu 37 22 50277523 50277523 + Silent SNP G G A rs55748279 byCluster;byFrequency;by1000genomes TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_014838.2 +1 validated p.P71 0.000 77 0% 121 41.3% 10 10% - - - NULL SBF1 6305 genome.wustl.edu 37 22 50900532 50900532 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_002972.2 -1 validated p.A805T 1.000 47 0% 64 34.4% 23 21.7% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL ENSG00000210100 0 genome.wustl.edu 37 MT 4284 4284 + RNA SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 ENST00000387365 +1 novel NULL NULL 9 0.000 6 1.000 161 98.7% - - - - PIGA 5277 genome.wustl.edu 37 X 15349444 15349444 + Silent SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_002641.2 -1 reviewed p.V203 0.988 475 0% 397 37.8% 4 100% - - - superfamily_UDP-Glycosyltransferase/glycogen phosphorylase ZRSR2 8233 genome.wustl.edu 37 X 15841226 15841226 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_005089.3 +1 reviewed p.R437Q 0.026 17 0% 29 27.6% 7 0% unknown(0) tolerated(0.35) - NULL BEND2 139105 genome.wustl.edu 37 X 18198721 18198721 + Silent SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_153346.4 -1 validated p.N446 0.000 816 0% 739 36% 0 - - - - NULL ENSG00000237836 0 genome.wustl.edu 37 X 18911458 18911458 + Splice_Site SNP T T C novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 ENST00000439295 +1 known NULL 0.000 14 0% 13 30.8% 24 83.3% - - - - PHKA2 5256 genome.wustl.edu 37 X 18926138 18926138 + Silent SNP G G A rs181179616 by1000genomes TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_000292.2 -1 reviewed p.H799 0.985 122 0% 141 28.4% 5 0% - - - HMMPfam_PHK_AB FTHL17 53940 genome.wustl.edu 37 X 31089528 31089528 + Missense_Mutation SNP T T A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_031894.2 -1 reviewed p.K181N 0.000 33 0% 77 42.9% 0 - probably_damaging(0.999) tolerated(0.44) deleterious(0.503) NULL APEX2 27301 genome.wustl.edu 37 X 55027009 55027009 + Missense_Mutation SNP A A T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_014481.2 +1 reviewed p.T52S 1.000 155 0% 161 36.6% 32 0% benign(0.231) tolerated(0.1) neutral(0.309) HMMPfam_Exo_endo_phos,superfamily_Exo_endo_phos DLG3 1741 genome.wustl.edu 37 X 69668801 69668801 + Silent SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_021120.3 +1 reviewed p.I132 0.991 289 0% 314 42.4% 0 - - - - HMMPfam_PDZ,superfamily_PDZ domain-like GPR174 84636 genome.wustl.edu 37 X 78427451 78427451 + Missense_Mutation SNP C C A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_032553.1 +1 validated p.A316E 0.076 228 0% 193 32.6% 0 - benign(0.003) tolerated(0.41) neutral(0.015) NULL COL4A6 1288 genome.wustl.edu 37 X 107422034 107422034 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_001847.2 -1 reviewed p.R800W 0.618 176 0% 185 30.8% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Collagen KLHL13 90293 genome.wustl.edu 37 X 117043367 117043367 + Missense_Mutation SNP C C G novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_033495.3 -1 reviewed p.W421C 1.000 272 0% 243 37.4% 6 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain CUL4B 8450 genome.wustl.edu 37 X 119675503 119675503 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_003588.3 -1 reviewed p.R484Q 1.000 382 0% 293 42.3% 19 0% benign(0.032) tolerated(0.14) neutral(0.251) HMMPfam_Cullin,superfamily_Cullin repeat ACTRT1 139741 genome.wustl.edu 37 X 127185447 127185447 + Missense_Mutation SNP G G A novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_138289.3 -1 reviewed p.H247Y 0.936 133 0% 163 34.4% 0 - benign(0.08) deleterious(0) neutral(0.450) HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 PLXNA3 55558 genome.wustl.edu 37 X 153694105 153694105 + Missense_Mutation SNP T T G novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_017514.3 +1 reviewed p.L816R 1.000 18 0% 34 23.5% 8 0% probably_damaging(1) tolerated(0.14) deleterious(0.750) HMMPfam_PSI,HMMSmart_PSI MPP1 4354 genome.wustl.edu 37 X 154012303 154012303 + Missense_Mutation SNP C C T novel TCGA-D1-A17U-01A-21D-A12J-09 TCGA-D1-A17U-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 61e808b0-4895-45fe-8ccd-738babf435ac 68f53ab0-4fea-449e-a071-267f25101388 NM_002436.3 -1 reviewed p.G289R 1.000 239 0% 289 34.9% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases